14 research outputs found
Recommended from our members
Transfer Student Experiences at a Four-Year University
- Publication venue
- CSUSB ScholarWorks
- Publication date
- 01/12/2016
- Field of study
In recent years attention has been concentrated on the experiences of traditional college students, with very little research or attention on the experiences of transfer students. The purpose of this causal comparative mixed-methods study was to describe the experiences of transfer students who engage in the experiential learning activities of service learning and/or internship activities at a four-year public Hispanic Serving Institution (HSI) in the Inland Empire. Relationships were found between transfer students who participated in service learning and/or internship activities and those transfer students who did not participate in those activities on the following: level of satisfaction with their educational experience, current job/career, and sense of connectedness to the university, and beliefs about how much the university contributed to their acquisition of job- or work-related knowledge and skills. Predominant concepts regarding transfer students\u27 beliefs about what the university could do to help them be successful, were the implementation of a transfer student orientation and creating a transfer student center
Bridging the Great Divide Between Theoretical and Empirical Management Research
- Publication venue
- 'Daehan Academy of Management Information Systems'
- Publication date
- 01/01/2014
- Field of study
Management research places a great premium on theory development. Despite this emphasis, concerns have been expressed regarding the extent to which management theories are tested in empirical research. This article reviews evidence concerning the connections between theoretical and empirical management research and reports an investigation that examines the correspondence between the propositions presented in 20 highly cited theoretical articles and the hypotheses stated in 361 empirical articles that cite the theories. Results indicate that the vast majority of theoretical propositions are not translated into empirical hypotheses, indicating a great divide between theoretical and empirical management research. Implications of these results are discussed, and potential solutions are offered
Prevalence and architecture of de novo mutations in developmental disorders.
- Author
- Ahmed Munaza
- Aitken Stuart
- Akawi Nadia
- Alvi Mohsan
- Ambridge Kirsty
- Anjum Uruj
- Archer Hayley
- Armstrong Ruth
- Awada Jana
- Balasubramanian Meena
- Banka Siddharth
- Baralle Diana
- Barnicoat Angela
- Barrett Daniel M.
- Barrett Jeffrey C.
- Batstone Paul
- Baty David
- Bayzetinova Tanya
- Bennett Chris
- Berg Jonathan
- Bernhard Birgitta
- Bevan A. Paul
- Bitner-Glindzicz Maria
- Blair Edward
- Blyth Moira
- Bohanna David
- Bourdon Louise
- Bourn David
- Bradley Lisa
- Brady Angela
- Brent Simon
- Brewer Carole
- Brunstrom Kate
- Bunyan David J.
- Burn John
- Canham Natalie
- Castle Bruce
- Chandler Kate
- Chatzimichali Elena
- Cilliers Deirdre
- Clarke Angus
- Clasper Susan
- Clayton Stephen
- Clayton-Smith Jill
- Clowes Virginia
- Coates Andrea
- Cole Trevor
- Colgiu Irina
- Collins Amanda
- Collinson Morag N.
- Connell Fiona
- Cooper Nicola
- Cox Helen
- Cresswell Lara
- Cross Gareth
- Crow Yanick
- D'Alessandro Mariella
- Dabir Tabib
- Davidson Rosemarie
- Davies Sally
- de Vries Dylan
- Dean John
- Deshpande Charu
- Devlin Gemma
- Dixit Abhijit
- Dobbie Angus
- Donaldson Alan
- Donnai Dian
- Donnelly Carina
- Donnelly Deirdre
- Douglas Angela
- Douzgou Sofia
- Duncan Alexis
- Eason Jacqueline
- Ellard Sian
- Ellis Ian
- Elmslie Frances
- Evans Karenza
- Everest Sarah
- Fendick Tina
- Firth Helen V.
- Fisher Richard
- Fitzgerald Tomas W.
- FitzPatrick David R.
- Flinter Frances
- Foulds Nicola
- Fry Andrew
- Fryer Alan
- Gardiner Carol
- Gaunt Lorraine
- Ghali Neeti
- Gibbons Richard
- Gill Harinder
- Goodship Judith
- Goudie David
- Gray Emma
- Green Andrew
- Greene Philip
- Greenhalgh Lynn
- Gribble Susan
- Harrison Lucy
- Harrison Rachel
- Harrison Victoria
- Hawkins Rose
- He Liu
- Hellens Stephen
- Henderson Alex
- Hewitt Sarah
- Hildyard Lucy
- Hobson Emma
- Holden Simon
- Holder Muriel
- Holder Susan
- Hollingsworth Georgina
- Homfray Tessa
- Humphreys Mervyn
- Hurles Matthew E.
- Hurst Jane
- Hutton Ben
- Ingram Stuart
- Irving Melita
- Islam Lily
- Jackson Andrew
- Jarvis Joanna
- Jenkins Lucy
- Johnson Diana
- Jones Elizabeth
- Jones Philip
- Jones Wendy D.
- Josifova Dragana
- Joss Shelagh
- Kaemba Beckie
- Kaplanis Joanna
- Kazembe Sandra
- Kelsell Rosemary
- Kerr Bronwyn
- King Daniel
- Kingston Helen
- Kini Usha
- Kinning Esther
- Kirby Gail
- Kirk Claire
- Kivuva Emma
- Kraus Alison
- Krishnappa Netravathi
- Kumar Dhavendra
- Kumar V. K. Ajith
- Lachlan Katherine
- Lam Wayne
- Lampe Anne
- Langman Caroline
- Lees Melissa
- Lim Derek
- Longman Cheryl
- Lowther Gordon
- Lynch Sally A.
- Magee Alex
- Maher Eddy
- Male Alison
- Mansour Sahar
- Marks Karen
- Martin Katherine
- Mason Laura E.
- Maye Una
- McCann Emma
- McConnell Vivienne
- McEntagart Meriel
- McGowan Ruth
- McKay Kirsten
- McKee Shane
- McMullan Dominic J.
- McNerlan Susan
- McRae Jeremy F.
- McWilliam Catherine
- Mehta Sarju
- Metcalfe Kay
- Middleton Anna
- Miedzybrodzka Zosia
- Miles Emma
- Mohammed Shehla
- Montgomery Tara
- Moore David
- Morgan Sian
- Morton Jenny
- Mugalaasi Hood
- Murday Victoria
- Murphy Helen
- Naik Swati
- Nellåker Chris
- Nemeth Andrea
- Nevitt Louise
- Newbury-Ecob Ruth
- Norman Andrew
- O'Shea Rosie
- Ogilvie Caroline
- Ong Kai-Ren
- Park Soo-Mi
- Parker Michael
- Parker Michael J.
- Patel Chirag
- Paterson Joan
- Payne Stewart
- Perrett Daniel
- Phipps Julie
- Pilz Daniela T.
- Pollard Martin
- Pottinger Caroline
- Poulton Joanna
- Pratt Norman
- Prescott Katrina
- Price Sue
- Pridham Abigail
- Prigmore Elena
- Procter Annie
- Purnell Hellen
- Quarrell Oliver
- Ragge Nicola
- Rahbari Raheleh
- Rajan Diana
- Randall Josh
- Rankin Julia
- Raymond Lucy
- Rice Debbie
- Robert Leema
- Roberts Eileen
- Roberts Gillian
- Roberts Jonathan
- Roberts Paul
- Ross Alison
- Rosser Elisabeth
- Saggar Anand
- Samant Shalaka
- Sampson Julian
- Sandford Richard
- Sarkar Ajoy
- Schweiger Susann
- Scott Richard
- Scurr Ingrid
- Selby Ann
- Seller Anneke
- Sequeira Cheryl
- Shannon Nora
- Sharif Saba
- Shaw-Smith Charles
- Shearing Emma
- Shears Debbie
- Sheridan Eamonn
- Sifrim Alejandro
- Simonic Ingrid
- Singh Tarjinder
- Singzon Roldan
- Skitt Zara
- Smith Audrey
- Smith Kath
- Smithson Sarah
- Sneddon Linda
- Splitt Miranda
- Squires Miranda
- Stewart Fiona
- Stewart Helen
- Straub Volker
- Suri Mohnish
- Sutton Vivienne
- Swaminathan Ganesh Jawahar
- Sweeney Elizabeth
- Tatton-Brown Kate
- Taylor Cat
- Taylor Rohan
- Tein Mark
- Temple I. Karen
- Thomson Jenny
- Tischkowitz Marc
- Tivey Adrian R.
- Tomkins Susan
- Torokwa Audrey
- Treacy Becky
- Turner Claire
- Turnpenny Peter
- Tysoe Carolyn
- Vandersteen Anthony
- Varghese Vinod
- Vasudevan Pradeep
- Vijayarangakannan Parthiban
- Vogt Julie
- Wakeling Emma
- Wallwark Sarah
- Waters Jonathon
- Weber Astrid
- Wellesley Diana
- Whiteford Margo
- Widaa Sara
- Wilcox Sarah
- Wilkinson Emily
- Williams Denise
- Williams Nicola
- Wilson Louise
- Woods Geoff
- Wragg Christopher
- Wright Caroline F.
- Wright Michael
- Yates Laura
- Yau Michael
- Publication venue
- Nature
- Publication date
- 01/01/2017
- Field of study
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here we have sequenced the exomes of 4,293 families containing individuals with developmental disorders, and meta-analysed these data with data from another 3,287 individuals with similar disorders. We show that the most important factors influencing the diagnostic yield of DNMs are the sex of the affected individual, the relatedness of their parents, whether close relatives are affected and the parental ages. We identified 94 genes enriched in damaging DNMs, including 14 that previously lacked compelling evidence of involvement in developmental disorders. We have also characterized the phenotypic diversity among these disorders. We estimate that 42% of our cohort carry pathogenic DNMs in coding sequences; approximately half of these DNMs disrupt gene function and the remainder result in altered protein function. We estimate that developmental disorders caused by DNMs have an average prevalence of 1 in 213 to 1 in 448 births, depending on parental age. Given current global demographics, this equates to almost 400,000 children born per year
Finishing the euchromatic sequence of the human genome
- Author
- . Haifeng
- . Magner
- . Yin
- Abbott Scott
- Abbott-Ozersky Amanda
- Abdellah Zahra
- Abouelleil Amr
- Abrajano Anne
- Adachi Tamami
- Adam Catherine
- Adams Charles Q.
- Adamson Aaron
- Adekoya Emmanuel
- Adio-Oduola Babajide
- Aerts Andrea
- Aggarwal Arun
- Ahmadi Alireza
- Ahmed Shahana
- Aimable Matthew
- Ainscough Rachael
- Ait-Zahra Mostafa
- Aizu Tomoyuki
- Alcivare Dana
- Alegria Michelle
- Ali Alla
- Ali Johar
- Allegria-hartmann Michelle
- Alleman Jennifer
- Allen Carlana C.
- Allen Heather
- Allen Nicole R.
- Allen Susan
- Allen Thaddeus
- Almeida Jeff
- Almond Claire
- Alsbrooks Stephen L.
- Altherr Michael R.
- Amaratunge Harshinie C.
- Ambler Andrew
- Ambrose Karen
- Ambrose Kerrie
- Amemiya Chris
- Amico-Keller Gina
- Amin Amita G.
- Anderson Mechele
- Anderson Scott
- Anderson Scott
- Andora Janice
- Andredesz Carol
- Andrew Robert
- Andrews Dan
- Andrews Daniel
- Andrews Neil
- Andrews Stephanie
- Andriese Tim
- Anthouard Véronique
- Antonarakis Stylianos E.
- Anyalebechi Vivian
- Aoki Norie
- Apostolou Sinoula
- Apweiler Eva
- Arachchi Harindra
- Arai Rie
- Arbery Hazel
- Arcaina Marlon
- Arcaina Terisita
- Archer Beth
- Arellano Andre
- Arellano-Jones Perry
- Armbruster Jeff
- Armstrong Jon
- Arredondo Dilrukshi P.
- Arredondo Heather Hope
- Artiguenave François
- Asakawa Shuichi
- Asakawa Teruyo
- Ash Gareth
- Ashcroft Kevin
- Ashurst Jennifer
- Ashwell Robert
- Ashworth Linda K.
- Aslanidis Cara
- Asomugha Chinwe O.
- Asuncion Lawreen
- Atkin Deborah
- Atkinson Andrea
- Atkinson Barry
- Attix Cristina
- Attwood John
- Aubin Keith
- Auger Katherine
- Austin Shannon Michelle
- Avila Aaron
- Avis Terry
- Ayele Mulu
- Babayan Primo
- Babbage Anne
- Babbage Sarah
- Bach Phil
- Bachatsang Pasang
- Bacon Joanne
- Badri Hummy
- Baertsch Robert
- Bagguley Claire
- Bailey Jonathan
- Bajorek Eva
- Baker Andrew
- Baker Dan
- Baker M.
- Baker Richard
- Bakis Michele
- Baldwin Jennifer
- Banda Michael
- Banerjee Ruby
- Bao Jingyue
- Bao Qiyu
- Bao Weidong
- Bao Weidong
- Baptiste Pertrice
- Barbaria Joseph A.
- Barbe Valérie
- Bardill Simon
- Barker Daniel
- Barker Darren
- Barker Gary
- Barlow Karen
- Baron Laurent
- Barrett Anika
- Bartlett Rebecca
- Basham Victoria
- Bashman David
- Basu Suba
- Bateman Alex
- Bates Karen
- Battles John
- Batzer Mark
- Baumgart Cornelia
- Baumohl Jason
- Baynes Caroline
- Bayul Tashi
- Beall Keith
- Beard Lisa
- Beard Susan
- Beare David
- Beasley Alastair
- Beasley Helen
- Beasley Oliver
- Beaucham Leslie
- Beaudet Arthur
- Beck Alfred
- Beck Stephen
- Becker Michael
- Bell Emma
- Bell George I.
- Bellard Terell M.
- Bellerby Damian
- Bellerby Tristram
- Belter Edward A., Jr.
- Bemrose Richard
- Benard Michael Anthony
- BenKahla Alia
- Benke J
- Benner William
- Bennett James
- Bensasson Douda
- Bentley Andrew
- Bentley Dan
- Bentley David
- Berardinis Véronique de
- Bercovitz John
- Berghoff Amy
- Bergmann Anne
- Berkowicz Nicolas
- Berks Mary
- Berks Michael
- Bethel Graeme
- Beugelsdijk Tony J.
- Bhakta Rita
- Bhuchar Venita
- Bi Shihua
- Bian Xuemeng
- Bieri Tamberlyn
- Bimage Kesha E.
- Bird Christine
- Birditt Brian
- Birney Ewan
- Birney Ewan
- Birren Bruce
- Bissell Helen
- Biswalo Kaneza
- Bituin Aleksandr
- Black Stacey
- Blackburne-Maze Suzanne
- Blair Jessica Anne
- Blakey Sarah
- Blanks Tia
- Blasiar Darin
- Blazej Robert
- Blitshsteyn Berta
- Blomstrom David B.
- Bloom Scott
- Bloom Toby
- Blumer Heather
- Blye Jason
- Blyth Peter R.
- Blöcker Helmut
- Boatright Elizabeth
- Boehm John
- Boen Juanan
- Boguslavskiy Leonid
- Bolton Christel
- Bolund Lars
- Bondoc Marnel
- Bonfield James
- Bonnett Ralph
- Bonnin David
- Border Richard
- Borowsky Mark
- Borzym Katja
- Boukhgalter Boris
- Bowen Eric
- Bradley Amanda
- Bradshaw-Cordum Holly
- Brady Nicola
- Brandriff Brigitte F.
- Brannon Wade
- Branscomb Elbert
- Bray Jason
- Bray-Allen Sarah
- Brettin Thomas
- Bridgeman Anne
- Bridgers Michael
- Brimhall Angela K.
- Brokstein Peter
- Brook Jonathan
- Brooking Shane
- Brottier Philippe
- Brown Andrew
- Brown Clive
- Brown Jacqui
- Brown Margaret
- Brown Mary
- Brown Mary J.
- Brown Michael
- Brown Nancy C.
- Bruce David D.
- Bruce Robert
- Bruno William J.
- Bruskiewich Richard
- Bryant Jackie
- Bryant Jennifer E.
- Bryant Nathaniel P.
- Brüls Thomas
- Buatsi Delali
- Buck David
- Buckingham Judith M.
- Buckle Veronica
- Buczek Donald
- Budd Claire
- Buhay Christian J.
- Bulbul Kerem
- Buller Sarah
- Bunker Nathan
- Burberry Jill
- Burch Paula Ellen
- Burford Deborah
- Burgess Joanne
- Burgin Matt
- Burkett Carrie E.
- Burkhart-Schultz Karolyn
- Burrell Kevin L.
- Burrill Wayne
- Burrows Christine
- Burton Christine
- Burton John
- Butcher Phil
- Butler Adam
- Butler Jon
- Butler Paul
- Caenepeel Sean
- Cahill Patrick
- Cai Tianjing
- Cai Zhen
- Cairns Murray
- Calderon Eliana
- Callen David F.
- Camarata Jody
- Camire David
- Camm Nick
- Campbell Christopher
- Campbell Connie S.
- Campbell Evelyn W.
- Campbell Mary I.
- Campbell Mary L.
- Campo Kevin
- Canning Bruno
- Cao Ting
- Cao Yuzhu
- Caoile Chenier
- Cardenas Faviola
- Cardenas Lolo
- Cardenas Veronica
- Carder Carol
- Carder Paul
- Carpenter Kelly
- Carrano Anthony V.
- Carriere Jason
- Carter Jason
- Carter Kelvin
- Carter Nigel
- Caruso Lauren
- Casias Kristal
- Cattolico Laurence
- Cavanna Tamara
- Cavazos Iracema
- Cavazos Sandra R.
- Ceasar Heather
- Cedroni Maria
- Cepeda Mario
- Chacko Joseph
- Chain Patrick
- Chalk Shani
- Challacombe Jean F.
- Chan Ka
- Chan Sheryl N.
- Chan Yee Man
- Chang Jean L.
- Chapman Jarrod
- Chapman Joanna
- Chapple Jeffrey
- Charles Rachel
- Chasteen Leslie A.
- Chavarria Simeon
- Chazaro Bruno
- Chen Baoxian
- Chen Bin
- Chen Chira
- Chen Chong
- Chen Chong
- Chen Chun-Nan
- Chen Cong
- Chen Ellson
- Chen Hsiu-Chuan
- Chen Jianlong
- Chen Jie
- Chen Jin
- Chen Junbao
- Chen Lihong
- Chen Lixia
- Chen Ray
- Chen Shu
- Chen Tong
- Chen Xiaoyun
- Chen Xinyi
- Chen Yanjiong
- Chen Yiyu
- Chen Zhu
- Chen Zhu
- Chen Zhu
- Cheng Jan-Fang
- Cheng Zhihua
- Chertkov Olga
- Cheshatsang Yama
- Chi Cheng
- Chi Han C.
- Chillingworth Neil
- Chin Sylvia
- Chinn Corey
- Chinwalla Asif
- Chissoe Stephanie
- Chiu Sally
- Chothia Tom
- Christensen Mari
- Christopoulos Constantine
- Chu Joseph
- Chui Connie
- Chung A
- Cinkowsky Michael J.
- Citroen Mieke
- Clack Rob
- Clamp Michele
- Clark Anthea
- Clark Graham
- Clark Kevin
- Clark Lynn
- Clark Lynn M.
- Clark Richard
- Clark Sarah
- Clark Sue
- Clarke Adrian
- Clarke Betty
- Clarke Eddie
- Clarke Kay
- Clarke Laura
- Clawson Hiram
- Clee Chris
- Clegg Shelia
- Clerc Blankenburg Kerstin Petra
- Cleveland David
- Clifford Karen
- Clifton Sandra W.
- Coates Julia
- Cobley Victoria
- Cockrell Raynard
- Coffey Alison
- Cofield Jackie
- Coggill Penelope
- Cohn Judith D.
- Colayco Rick
- Cole Lotte
- Collier Rachael
- Collings Simon
- Collins Francis S.
- Collins John
- Collins Philip
- Collymore Al
- Colman Louise
- Combs Jessie
- Comstock Robin
- Cong Bin
- Conner Richard
- Connolly Anthony
- Connolly Karen
- Conquer Jennie
- Conrad Ansgar
- Conroy Donald
- Considine Tony
- Constance Doug
- Cook April
- Cook Leanna
- Cooke Patrick
- Cooper Jonathan
- Cooper Rachel
- Cooper Robert
- Copeland Alex
- Coppola Maria
- Copsey Teresa
- Corby Nicole
- Cordes Matt
- Cordray Rebecca
- Cornell Christine
- Cornell Earl
- Cornell Linda
- Cornell Ruth
- Corum Ben
- Cottage Amanda
- Cotton Sara
- Coulson Alan
- Couronne Olivier
- Courtney Laura P.
- Coville Gez
- Cox Anthony
- Cox Caroline D.
- Cox Tony
- Coxhill Robert
- Coyle Marcus D.
- Craig Matthew
- Crane Tom
- Crawford Amanda L.
- Crawley Matt
- Cree Andrew
- Crespeau Hervé
- Crew Victor
- Critchlow Terrance
- Critz Paul
- Cruaud Corinne
- Cuff James
- Cui Hongjuan
- Cui Jinhui
- Cui Peng
- Cui Peng
- Culley Karl
- Cummings Auli
- Cummings Kirsti
- Cummings Paul
- Cummings Stephanie
- Cuomo Christina A.
- Curran Adam
- Curwen Valery
- Cutts Jeffrey
- Czubayko Martin
- D\u27Souza Lisa Marie
- Da Silva Corinne
- Dai Li
- Dalin Eillen
- Dang Michelle
- Danganan Linda
- Daniels Rachael
- Dathorne Stephanie R.
- Daum Christopher
- David Robert
- Davidson Lucy
- Davidson Stuart
- Davies Jonathon
- Davies Joy
- Davies Nicholas
- Davies Robert
- Davila Mary Louise
- Davis Candi Mon\u27et
- Davis Cheryl
- Davis Clay
- Davis Jayne
- Davis John
- Davis Matthew
- Davy-Carroll Latarsha
- Dawoe Tenzin
- Dawson Elisabeth
- De Anda Claudia
- De Latorre Andrea
- Deadman Rebecca
- Dean Peter
- Dear Simon
- Dearden Frances
- DeArellano Kurt
- Deaven Larry I.
- Deaven Larry L.
- Deere Kerry
- DeGray Stewart
- Degusta David
- Deguzman Maria
- Dehal Paramvir
- Delgado Marcos
- Delgado Oliver
- Delhaunty Kimberley
- Deloukas Panos
- Deng Yajun
- Dennis Janet
- Denson Shawn
- Denys Mirian
- Deramo Christine
- Desai Anu
- Detter John C.
- Devlin Laurie
- Dewar Ken
- Dhami Pawandeep
- Dhongsar Chemey
- Dias Jennifer
- Dias Victoria
- Dibartolo Genevieve
- Dibling Catherine
- Dickson Mark
- Diekhans Mark
- Dietz-Band Jeanne
- Digennaro Richard
- Dilts Karen
- Dimitrijevic-Bussod Mira
- Ding Hao
- Ding Keyue
- Ding Li
- Ding Yan
- Dinh Huyen H.
- Dixon Kami
- Do Long
- Dobbs Ruth
- Dobson Richard
- Dockree Catherine
- Doddington Daniel
- Dodsworth Steven
- Doggett Norman
- Doggett Norman A.
- Dong Hui
- Dong Kimberly
- Dong Wei
- Dong Wei
- Dong Xiaojia
- Donlin Jeremy E.
- Dooley Kathy
- Dooling David
- Dorje Passang
- Dorjee Kunsang
- Dorris Lester
- Dorsett Victor
- Doucette-Stamm Lynn
- Douthwaite Karen J.
- Down Thomas
- Draper Heather
- Du Feiyu
- Du Hui
- Du Yutao
- Duarte Suzanne
- Dubchak Inna
- Duffy Noah
- Dugan-Rocha Shannon
- Dunham Andrew
- Dunham Ian
- Dunn Adam M.
- Dunn Anne
- Dunn Matthew
- Dunwell Erin
- Dupes Alan
- Durbin Kenneth J.
- Durbin Richard
- Durham Jillian
- Dutta Ireena
- Dwyer Ruth
- Dyer Lauren
- Dziuda Darius
- Earnhardt Christopher D.
- Earthrowl Mark
- Eastham Emma
- Eastham Timothy
- Eaves Kristy A.
- Eckenberg Ralph
- Edgar Darren
- Edionwe Susan Omwanghe Osayanro
- Edwards Carol
- Edwards Jennifer
- Edwards Karen
- Egan Amy
- Eichler Evan
- Eichler Evan
- Ejima Fumio
- Elkin Chris
- Ellington Andrew
- Elliot David
- Elliot Glendoria
- Elliot Jeffrey
- Ellwood Matthew
- Emberson Becky
- Emelianenko Natalia
- Emery-Cohen Alexandra J.
- Endrizzi Matthew
- Engh Ger van den
- Engle David
- Erickson Jeffery
- Erler Anne Marie
- Errington Helen
- Escobar Julio
- Escotto Michael
- Eugene Craig S.
- Evans Gareth
- Evans John
- Evans Katie
- Evans Richard
- Eveleth Gerald
- Eyras Eduardo
- Fan Hongyuan
- Fan Keke
- Fang Jianqiu
- Farina Abderrahim
- Faro Susan
- Faulkner Louisa
- Fawcett Joseph J.
- Fechtel Kim
- Fellingham Charlotte
- Felming Claire
- Felsenfeld Adam
- Feltwell Theresa
- Feng Guodong
- Feng Haiyan
- Feng Jie
- Feng Xiaoli
- Fennell Stephen
- Ferguson Alicia
- Fernandez Sonia
- Fernandez-Suarez Xose
- Fernando Pushpa Ranjani
- Ferriera Pat
- Fertitta Anne
- Fey Jim
- Fidel Patrick
- Fields Elizabeth
- Fink Marie
- Finley Maria C.
- Finn Robert
- Fischer Heather
- Fischer Laurice
- Fisher Shelia
- Fitch Pat
- Fitzgerald Mike
- Flack Tina
- Flagg Nicole
- Flanagan J.
- Fleming Kerry
- Flint Jonathan
- Flint Mark
- Flowers Dave
- Floyd Yvonne
- Foley Karen
- Folta Peg
- Fong Jonathan
- Fonknechten Núrua
- Footman Simon
- Forbes Lisa D.
- Ford Amanda F.
- Foster Myre J.
- Fotopulos Dea
- Fourcade Matthew
- Fowler John
- Fox Jessica
- Frame Deborah
- Francis Matthew
- Francis Stephen
- Frankel Ken
- Frankish Adam
- Frankland John
- Fraser Audrey
- Fraser David
- Frazier Marvin
- French Lisa
- Fricker David
- Fridlyand Jane
- Fronick Catrina
- Frost Carole
- Frost Daniel
- Frost Jackie
- Frost Lorna
- Fu Gang
- Fu Gang
- Fu Gang
- Fu Qiushi
- Fujioka Michiru
- Fujiyama Asao
- Fukawa Rintaro
- Fuller Liam
- Fuller Sharin
- Fullerton Kathryn
- Fulton Lucinda A.
- Fulton Robert S.
- Furey Terrence S.
- Furuhashi Mie
- Förste Silke
- Gabisi Abdul M.
- Gage Diane
- Gaige Tony
- Galgoczy Petra
- Gallegos Celsa
- Galvez Michael
- Gammon Stuart
- Gao Anwu
- Gao Jimei
- Gao Quan
- Gao Yang
- Gao Yimei
- Garcia Carmen
- Garcia Emilio
- Garcia Marvin
- Garcia Ricardo M, III
- Garcia-Martinez Antonio
- Gardner Alison
- Gardner Alison
- Garduno Consuelo
- Gardyna Steph
- Garner Patrick
- Garner Toni T.
- Garnes Jeffrey A.
- Garnett Jane
- Garza Melissa
- Gatewood Joseph M.
- Gatland Leigh
- Gatland Lindsay
- Gattung Stacie
- Gay Laura
- Gearin Gary
- Gebreyesus Binyam
- Gelein Cynthia
- Gelpke Maartin
- Gench Stephanie L.
- Geng Jianing
- Georgescu Anca
- Geotina Amy
- Ghori Jilur
- Ghose Sayantan
- Gibbs Ben
- Gibbs Richard A.
- Gibson Diane
- Gibson Elizabeth
- Gifford Mary
- Gil Isaias
- Gilbert James
- Gilby Lisa
- Gill Rachel
- Gillet Will
- Gillson Christopher
- Gilna Paul
- Gimmel Verena
- Gingrich Jeff
- Giovanelli Kira
- Glavina Tijana
- Glithero Rebecca
- Glöckner Gernot
- Gnerre Sante
- Gnirke Andreas
- Gold Darren
- Golinveaux Kristen
- Gomez Maria
- Gong Guanghui
- Gong Jinying
- Gonzales Eidelyn
- Gonzalez Guillermo B.
- Gooderham April
- Goodstadt Leo
- Goodstein David
- Goodwin Lynne A.
- Gordon Catherine
- Gordon Laurie A.
- Gordon Seth
- Gorton Matthew
- Gorvad Ann
- Gould Christine
- Goyea Ernest
- Goyette Audra
- Grady Deborah I.
- Grady Michelle L.
- Grafham Darren
- Graham Joe
- Grandbois Edward
- Grant Jennifer
- Grant Michael
- Grant Susan
- Graves Tina A.
- Gray Bruce
- Gray Emma
- Gray Lain
- Green Lisa
- Greenhalgh James
- Greenhill Joe
- Gregg Philippa
- Gregory Simon
- Grewal Nennu
- Gribble Susan
- Griffith Jeffrey K.
- Griffiths Coline
- Griffiths Ed
- Griffiths Mark
- Griffiths-Jones Sam
- Grigoriev Igor
- Grimwood Jane
- Grocock Russell
- Groza Matthew
- Gu Jingli
- Gu Jun
- Gu Jun
- Gu Wenyi
- Gu Wenyi
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- Guan Qiaoning
- Guarin Hannibal
- Guel Metzalli
- Guerra William
- Guevara Whitney V.
- Gui Qi
- Gunaratne Preethi
- Gunning Kate
- Guo Daorong
- Guo Jane
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- Gustafson Erik
- Guthrie Ian
- Guyer Mark
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- Ha Chi
- Hafez Nabil
- Haglund Krista
- Hagopian Daniel
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- Hajek Patrick
- Hall Brett Lynn
- Hall Brittany
- Hall Jennifer
- Hall Rebekah
- Hall-Tamly Gretta
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- Hamada Junko
- Hamilton Cerissa
- Hamilton Keelan A.
- Hamilton Matt
- Hamlett John
- Hamlett John
- Hammon Nancy
- Hammond Martin
- Hammond Sha
- Hammond Sian
- Hamza Khalid
- Han Guiqing
- Han Shunsheng
- Han Xurong
- Hanak Vincent A.
- Hancock Julie
- Harbes Brandy A.
- Harding Adam
- Harkins C. Richard
- Harley Joanne
- Harper David
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- Harper Patrik
- Harradence Grant
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- Harrison Charlene-Lou
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- Hashimoto Etsuko
- Hashimoto Wakako
- Hassan Daniel
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- Haugen Eric
- Haussler David
- Havlak Paul
- Hawes Alicia C.
- Hawkins Ebere Sylvia Onyirioha
- Hawkins Natalie
- Hawkins Trevor
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- Hepa Victor
- Herd Tim
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- Hernandez Omar
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- Hewitt Stephen
- Heyen Joshua
- Higgs Douglas
- Hildebrand Carl E.
- Hillier LaDeana
- Hillyard Guy
- Hines Sandra
- Hinkins Russell
- Hinrichs Angela S.
- Hitchens Matthew Edward
- Ho Issac
- Ho Sara-Jane
- Hodgson Anne V.
- Hodgson David
- Hoffman Susan M.G.
- Hoffs Michael
- Hogues Marilyn E.
- Holden Jane
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- Holtzer Caleb
- Homsi Deana K.
- Homsi Farah J.
- Honan Tracy
- Hood Leroy
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- Howden Philip
- Howe Kevin
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- Howell Latoya Lynette
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- Huang Wei
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- Huckle Elizabeth
- Hue Heather
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- Hupman Matt
- Huynh Sandy
- Hyde David
- Hynds Christopher
- Idlebird Devincent G.
- Iliev Ilian
- Imbro Paula
- Imo Kelvin C.
- Inacio Nicole
- Inagaki Naomi
- Ince Michael
- Ingram Drew
- Inoue Shuuji
- Isak Amber
- Isherwood Judith
- Ishibashi Akiko
- Ishikawa Sabine K.
- Ishizaki Hinako
- Isozaki Emi
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- Ito Fumiaki
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- Itoh Takehiko
- Iwakawa Shinobu
- Iwatate Mariko
- Iwatsu Mikiko
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- Izatt Janet
- Izmajlowicz Monica
- Izumiyama Tomohiro
- Jacintho Mark
- Jackson Laronda R.
- Jackson Terri
- Jacob Leni Susan
- Jaeger Sara
- Jaffe David B.
- Jahn Niels
- Jaklevic Joseph
- Jaklevic Michael
- James Kent W.
- Jareborg Niclas
- Jarek Michael
- Jassal Bijay
- Jeffery Grant
- Jeffery Kim
- Jeffrey Colin
- Jekosch Kerstin
- Jenkins Lee
- Jett Jamie
- Jewett Phillip E.
- Jia Jia
- Jia Jia
- Jia Nan
- Jia Xingchang
- Jiang Lu
- Jiang Yanrui
- Jiang Ziyou
- Jimenez Alberto
- Jin Jian
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- Jones Abigail
- Jones Charlien
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- Jones Micheil
- Jones Myrna D.
- Jones Steven
- Jong Pieter De
- Jordan Yun
- Joseph Shirin
- Joy Ann
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- Kana Arnold
- Kang Hui
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- Karunaratne Kanchi
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- Katayama Takujiro
- Kato Takako
- Kauer Gerhard
- Kaul Rajinder
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- Kay Michael
- Kaye Danielle
- Kearney Lyndal
- Keefe Damian
- Keen Gifford
- Keenan Stephen
- Kegelmeyer Laura
- Kegg Lisa
- Kelley Simon
- Kells Cristyn
- Kelly Shayna P.
- Kelly Susan H.
- Kershaw Joanna
- Kettleborough Ross
- Keys David
- Khan Arsi
- Khan Umer F.
- Khan Ziad Mohid
- Khine Susu
- Khurama Divya
- Kidd Cathy
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- Kieu Alix
- Kim Jennifer
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- Kobayashi Mai
- Kodira Chinnappa
- Kohlberg Sara
- Kojima Kazuyasu
- Kolbe William
- Kong Yi
- Korf Ian
- Kosiura Anna
- Kou Zhaohui
- Kovar Christie L.
- Krawczyk Marie-Claude
- Kremitzki Colin
- Kremmidiotis Gabriel
- Krogh Anders
- Kronmiller Brent
- Kruchowski Scott S.
- Kube Michael
- Kubischta Duane
- Kudoh Jun
- Kuehl Jennifer
- Kuharic Patrick
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- Kulish Larissa
- Kuroki Yoko
- Kwan Chinnie
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- Lad Heena
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- Laing Michael
- Laird Gavin
- Lam Edward
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- Lama Dawa
- Lamar Betty
- Lambart Christine
- Lamble Ralph
- Lamerdin Jane E.
- Lander Eric S.
- Landers Tom
- Langford Cordelia
- Lansang Christine
- Lao Victoria
- Lapidus Alla
- Larke Ben
- Lato Bernadette
- Latreille Phil
- Lau Timun
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- Lehman Karl
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- Lehrach Hans
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- Lei Meng
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- Leonard Shawn
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- Levan Jaclyn M.
- Leversha Margaret
- Levine Rosie
- Levy Andrew
- Levy Michaël
- Lewis Doreen
- Lewis Ernest K.
- Lewis Keith
- Lewis Lakeshia C.
- Lewis Lora R.
- Lewis Tammy
- Leyba Tina
- Li Changfeng
- Li Chenji
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- Li Zhangwan
- Lieuallen Kim
- Lightning Julia
- Lim Meng K.
- Lindblad-Toh Kerstin
- Lindo Ken
- Lindquist K.
- Lindsay Sarah
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- LIne Matthew
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- Linsdell Sally
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- Liu Yu
- Liu Zhanwei
- Liyanage Dhammika
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- Lock Victoria
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- London Darin
- London Pamela
- Longden Ian
- Longmire Johnathan L.
- Lopez Frederick
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- Loraine Howard
- Lord Rachel
- Lorensuhewa Lorna M.
- Lou Yunian
- Loulseged Hermela
- Loveland Jane
- Lovell Jamie
- Lovett Demetria A.
- Lowenstein Michael G.
- Lowry Stephen
- Lozado Ryan J.
- Lu Lingfeng
- Lu Tao
- Lu Xiuhua
- Lu Yongxiang
- Lu Yontao T.
- Lu Yue
- Lucas Robert
- Lucas Susan
- Lucier Alice
- Lucier Raymond L.
- Ludeman Thom
- Lui Annie
- Lundgren Lyndsey
- Luo Chunqing
- Luo Chunqing
- Lv Gang
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- Mabbitt Richard
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- Machrus Migdad
- Macht Madison
- Macken Catherine A.
- MacLean Christine
- Madabhushi Ramki
- Madu Renita C.
- Maeda Hideto
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- Maheshwari Manjula
- Mahindartne Mathew
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- Mahnke Ryan
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- Malloy Kevin
- Maltbie Mary I.
- Mangum Brian
- Manning Jonathan
- Manohar Chitra
- Mapua Patricia
- Marabella Dick
- Mardis Elaine R.
- Mareth David
- Mariano Marisa
- Marinelli Lisa
- Mark Graham A.
- Marquis-Homeyer Catherine
- Marr Thomas G.
- Marra Marco
- Marriott Neil
- Marrone Anne
- Marroquin Christian
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- Martin Joel
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- Matthews Charles D.
- Matthews Lucy
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- Matthews Paul
- Matthews Sterling D.
- Mauceli Evan
- Maunes Cynthia
- Maupin Rachel
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- Maynard Madalynne
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- McLean James
- McLellan Michael D.
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- McMurdo John
- McMurray Amanda
- McMurray Des
- McMurray Kimberly
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- Meidi Patrick
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- Mercer Simon
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- Metzker Michael Lee
- Meyer Rekha
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- Michaelis Evelyn
- Micklem Gos
- Mieczkowski Carl
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- Miguel Trini
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- Mihalkanin Danielle
- Mihova Tanya
- Miles Simon
- Mileur Mason W.
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- Minja Emmanuel
- Minoshima Shinsei
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- Montgomery Mishelle
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- Morgan Margaret B.
- Morita Hiroko
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- Morton Jerry
- Motoyama Ayuko
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- Mullenger Ian
- Mullikin Jim
- Mulrain Leon
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- Mundt Mark O.
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- Munidasa Mala
- Munk A. Christine
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- Munson Glen
- Murakami Katsuhiko
- Murayama Yuji
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- Murphy Matthew B.
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- Murray Christine
- Murray Debra Dianne
- Murray Jennifer
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- Muzny Donna Marie
- Myers Alison
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- Nagao Syunsuke
- Nagaraja R.
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- Nelson Kathryn
- Nelson Ward
- Nesbitt Ryan
- Neunkirch Jennifer
- Newes Christian
- Newman April
- Ng Bee
- Ng Terrance
- Ngo Robin Ngoc
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- Nguyen Natalie M.
- Nguyen Ngoc Bich
- Nguyen Thu
- Nhan Mike
- Ni Lin
- Niblett David
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- Nickerson Tim
- Nicol Robert
- Nijjar Sukhjit
- Ning Zemin
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- Nishida Aki
- Niu Yuxin
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- Nivens Amber
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- Nolan Matt
- Norbu Chou Dolma
- Norbu Nyima
- Nordsiek Gabriele
- Norris Sarah Louise
- Novik Karen
- Nowlin Larry
- Nusbaum Chad
- Nwaokelemeh Ogechi O.
- Nwokenkwo Stanley
- O\u27Donnell Paula
- O\u27Donovan Daniel
- O\u27Leary Sinead
- O\u27Loughlin Jennifer
- O\u27Neill Keith
- Obayashi Izumi
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- Ohno Saho
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- Oomori Nobuhiro
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- Oragunye Njideka
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- Palazzolo Michael
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- Panasenko Vladimir
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- Pettett Roger
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- Phunkang Pema
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- Piqani Bruno
- Piscia C.
- Pitesky Maurice
- Pitluck Sam
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- Procter Glenn
- Pruitt Kim
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- Putnam Nicholas
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- Qi Qiuhui
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- Qi Xiaohua
- Qian Xufang
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- Qiang Boqin
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- Rash Sam
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- Ray Vernada
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- Richard Suzzanne
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- Richardson Paul
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- Riethman Harold
- Riethoven Lyn
- Rigby Rachel
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- Saenphimmachak Channakhone
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- Sana Moazzam Mohammad
- Sanders Brent
- Sanders Christina
- Sanders Wendi
- Santibanez Jireh
- Santoyo-Lopez Javier
- Sanuki Naoko
- Sarmiento R.
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- Yang Hao
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- Yang Huanming
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- Yang Xiaonan
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- Yao Zhijian
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- Ye Chen
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- Zeng Yixin
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- Zhang Xiuqing
- Zhang Yan
- Zhang Yi
- Zhang Yilin
- Zhang Yilin
- Zhang Ying
- Zhang Yuansen
- Zhang Yuzhi
- Zhang Zhengdong
- Zhao Hongmei
- Zhao Lijian
- Zhao Shenru
- Zhao Zhijing
- Zhen Zhicheng
- Zheng Haibo
- Zhong Ming
- Zhou Carol
- Zhou Haixia
- Zhou Jianling
- Zhou Nannan
- Zhou Xinfeng
- Zhou Yan
- Zhou Yang
- Zhou Yi
- Zhu Bingying
- Zhu Bofeng
- Zhu Fenghua
- Zhu Genfeng
- Zhu Genfeng
- Zhu Miao
- Zhu Ning
- Zhu Yongge
- Zhu Zhen
- Zhuang Shitao
- Zierten Deborah
- Zimmer Andrew
- Zody Michael C.
- Zollo Massimo
- Zorrilla Sara E.
- Zuo Lin
- Publication venue
- LSU Digital Commons
- Publication date
- 21/10/2004
- Field of study
The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead
Recommended from our members
The contribution of X-linked coding variation to severe developmental disorders
- Author
- Abbs Steve
- Akawi Nadia
- Albaba Shadi
- Allen Zoe
- Armstrong Ruth
- Azam Tara
- Baker Duncan
- Balasubramanian Meena
- Banka Siddharth
- Baple Emma
- Baptista Júlia
- Baralle Diana
- Barnicoat Angela
- Beleza Ana
- Bennett Christopher
- Berg Jonathan
- Bernhard Birgitta
- Blair Edward
- Blyth Moira
- Bodek Simon
- Borras Silvia
- Bourn David
- Bradley Lisa
- Bradley Therese
- Bradshaw Kirsty
- Brady Angela
- Breen Catherine
- Brewer Carole
- Briggs Tracy
- Brooks Claire
- Burkitt-Wright Emma
- Burn John
- Busby Louise
- Butler Rachel
- Callaway Alison
- Campbell Jennifer
- Canham Natalie
- Carmichael Jenny
- Cassidy Emma J.
- Castle Bruce
- Chandler Kate
- Cilliers Deirdre
- Clark Caroline
- Clarke Angus
- Clasper Susan
- Clayton-Smith Jill
- Cleary Elaine
- Clement Emma
- Clowes Virginia
- Coates Andrea
- Cole Trevor
- Comerford Joanne
- Cooper Nicola
- Cooper-Charles Lisa
- Corrin Sian
- Cox Helen
- Crosby Charlene
- Dabir Tabib
- Daniels Stacey
- Davidson Rosemarie
- Dean John
- Deshpande Charu
- Dixit Abhijit
- Dobbie Angus
- Donaldson Alan
- Donnai Dian
- Donnelly Deirdre
- Douglas Andrew
- Douzgou Sofia
- Dunn Carolyn
- Eason Jacqueline
- Eberhardt Ruth Y.
- Ellis Ian
- Elmslie Frances
- Faravelli Francesca
- Firth Helen V.
- Fisher Richard
- FitzPatrick David R.
- Flinter Frances
- Foulds Nicola
- Fry Andrew
- Gallone Giuseppe
- Gardiner Carol
- Gardner Eugene J.
- Gaunt Lorraine
- Ghali Neeti
- Gibbons Richard
- Goudie David
- Green Andrew
- Greenhalgh Lynn
- Haines Rebecca
- Harrison Rachel
- Hellens Steve
- Henderson Alex
- Hewitt Sarah
- Hills Alison
- Hobson Emma
- Holden Simon
- Holder Muriel
- Holder Susan
- Homfray Tessa
- Howard Emma
- Humphreys Mervyn
- Hunt David
- Hurles Matthew E.
- Hurst Jane
- Ibitoye Rita
- Irving Melita
- Islam Lily
- Izatt Louise
- Jackson Andrew
- Jackson Eilidh
- Jarvis Joanna
- Jenkins Lucy
- Jewell Rosalyn
- Jin Huilin
- Johnson Diana
- Jones Elizabeth
- Jones Wendy
- Josifova Dragana
- Joss Shelagh
- Kamath Arveen
- Kaplanis Joanna
- Keelagher Rebecca
- Kerr Bronwyn
- Kharbanda Mira
- Kini Usha
- Kinning Esther
- Kivuva Emma
- Kraus Alison
- Kumar V.K.Ajith
- Lachlan Katherine
- Lahiri Nayana
- Lam Wayne
- Lampe Anne
- Langley Claire
- Lees Melissa
- Lester Tracy
- Lim Derek
- Longman Cheryl
- Loughlin Sam
- Low Karen
- Lynch Sally
- Magee Alex
- Male Alison
- Mansour Sahar
- Marks Karen
- Martin Hilary C.
- Mavrak Eleni
- McCann Emma
- McConnell Vivienne
- McEntagart Meriel
- McGowan Ruth
- McKee Shane
- McLean Joanne
- McMullan Dominic
- McNerlan Susan
- McQuaid Shirley
- McRae Jeremy
- McWilliam Catherine
- Mercer Catherine
- Metcalfe Kay
- Miedzybrodzka Zosia
- Mohammed Shehla
- Molenda Aneta
- Montgomery Tara
- Moore David
- Morrison Patrick J.
- Morrogh Deborah
- Morton Jenny
- Mugalaasi Hood
- Mullaney Brendan
- Murday Victoria
- Mutch Stacey
- Naik Swati
- Nemeth Andrea
- Neville Matthew D. C.
- Newbury-Ecob Ruth
- Niemi Mari E. K.
- Norman Andrew M.
- Ong Kai-Ren
- Osio Deborah
- Owens Martina
- O’Driscoll Mary
- Park Soo-Mi
- Parker Michael
- Paterson Joan
- Pilz Daniela
- Porteous Mary
- Pottinger Caroline
- Poulton Joanna
- Prescott Katrina
- Price Sue
- Procter Annie
- Quarrell Oliver
- Ragge Nicola
- Rankin Julia
- Raymond Lucy
- Rea Gillian
- Reavey Eleanor
- Reid Evan
- Robert Leema
- Roberts Eileen
- Ross Alison
- Rosser Elisabeth
- Roworth Wendy
- Ruddy Deborah
- Ryten Mina
- Saggar Anand
- Samocha Kaitlin E.
- Sampson Julian
- Sandford Richard
- Sansbury Francis
- Sarkar Ajoy
- Scott Richard
- Scurr Ingrid
- Searle Claire
- Shannon Nora
- Sharif Abid
- Shaw-Smith Charles
- Shears Debbie
- Sheridan Eamonn
- Side Lucy
- Sifrim Alejandro
- Simonic Ingrid
- Smith Audrey
- Smithson Sarah
- Splitt Miranda
- Stewart Alison
- Stewart Fiona
- Stewart Helen
- Stinton Victoria
- Straub Volker
- Suri Mohnish
- Swale Andrew
- Tatton-Brown Kate
- Tavares Ana Lisa Taylor
- Temple I. Karen
- Tennant Stephen
- Thomson Jenny
- Tischkowitz Marc
- Tobias Edward
- Tooley Madeleine
- Turner Claire
- Turnpenny Peter
- Turton Sarah
- Tysoe Carolyn
- Varghese Vinod
- Vasudevan Pradeep
- Vogt Julie
- Wakeling Emma
- Weber Astrid
- Wellesley Diana
- Whiteford Margo
- Wilkie Andrew
- Williams Denise
- Williams Nicola
- Willoughby Josh
- Wilson Louise
- Woods Geoff
- Wright Caroline F.
- Wright Michael
- Wright Ronnie
- Yau Shu
- Zwolinski Simon
- Publication venue
- Nature Communications
- Publication date
- 27/01/2021
- Field of study
Abstract: Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden of X-linked coding variation in 11,044 developmental disorder patients, and find a similar rate of X-linked causes in males and females (6.0% and 6.9%, respectively), indicating that such variants do not account for the 1.4-fold male bias. We develop an improved strategy to detect X-linked developmental disorders and identify 23 significant genes, all of which were previously known, consistent with our inference that the vast majority of the X-linked burden is in known developmental disorder-associated genes. Importantly, we estimate that, in male probands, only 13% of inherited rare missense variants in known developmental disorder-associated genes are likely to be pathogenic. Our results demonstrate that statistical analysis of large datasets can refine our understanding of modes of inheritance for individual X-linked disorders
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
- Author
- Abou Jamra Rami
- Accogli Andrea
- Ahmed Munaza
- Aitken Stuart
- Akawi Nadia
- Alvi Mohsan,
- Ambridge Kirsty
- Amburgey Kimberly
- Anderlid Britt Marie
- Anjum Uruj
- Archer Hayley
- Armstrong Ruth
- Awada Jana
- Azzarello-Burri Silvia
- Balasubramanian Meena
- Banka Siddharth
- Baralle Diana
- Barnicoat Angela
- Barrett Daniel
- Barrett Jeffrey
- Basinger Alice
- Batstone Paul
- Baty David
- Baxter Samantha
- Bayzetinova Tanya
- Bennett Chris
- Berg Jonathan
- Bernhard Birgitta
- Bevan A. Paul
- Bianchini Claudia,
- Bird Lynne
- Bitner-Glindzicz Maria
- Blair Edward
- Blyth Moira
- Bohanna David
- Bourdon Louise
- Bourn David
- Bradley Lisa
- Brady Angela,
- Brent Simon
- Brewer Carole
- Brunstrom Kate
- Buchert Rebecca
- Bunyan David
- Burn John
- Canham Natalie
- Carré Wilfrid
- Castle Bruce
- Ceulemans Sophia
- Chandler Kate
- Charles Perrine
- Chatzimichali Elena
- Cilliers Deirdre
- Clarke Angus
- Clasper Susan
- Clayton Stephen
- Clayton-Smith Jill
- Clowes Virginia
- Coates Andrea
- Cole Trevor
- Colgiu Irina
- Collins Amanda
- Collinson Morag
- Connell Fiona
- Cooper Nicola
- Cox Helen
- Cresswell Lara
- Cross Gareth
- Crow Yanick
- Culliton Lisa
- Currò Aurora
- Dabir Tabib
- Davidson Rosemarie
- Davies Sally
- de Vries Dylan
- Dean John
- Demurger Florence
- Deshpande Charu
- Devlin Gemma
- Dixit Abhijit
- Dobbie Angus
- Donaldson Alan
- Donnai Dian
- Donnelly Carina
- Donnelly Deirdre
- Douglas Angela
- Douzgou Sofia
- Dowling James,
- Duban-Bedu Bénédicte
- Dubourg Christèle
- Duncan Alexis
- D’Alessandro Mariella
- Eason Jacqueline
- Eiset Saga Elise
- Ellard Sian
- Ellis Ian
- Elmslie Frances
- Escobar Luis
- Evans Karenza
- Everest Sarah
- Faundes Víctor
- Fendick Tina
- Ferrarini Alessandra
- Firth Helen
- Fisher Richard
- Fitzgerald Tomas
- Fitzpatrick David
- Flinter Frances
- Foulds Nicola
- Fry Andrew
- Fryer Alan
- Gardiner Carol
- Gaunt Lorraine
- Ghali Neeti
- Gibbons Richard
- Gill Harinder
- Goodship Judith
- Goudie David
- Gray Emma
- Green Andrew
- Greene Philip
- Greenhalgh Lynn
- Gribble Susan
- Haack Tobias,
- Harrison Lucy
- Harrison Rachel
- Harrison Victoria
- Hashim Mona
- Hawkins Rose
- He Liu
- Heide Solveig
- Helbig Ingo
- Helbig Katherine,
- Hellens Stephen
- Henderson Alex
- Heredia Raul
- Hewitt Sarah
- Hildyard Lucy
- Hobson Emma
- Holden Simon
- Holder Muriel
- Holder Susan
- Hollingsworth Georgina
- Homfray Tessa
- Humphreys Mervyn
- Hurles Matthew,
- Hurst Jane
- Hutton Ben
- Héron Delphine
- Ingram Stuart
- Irving Melita
- Isidor Bertrand
- Islam Lily
- Jackson Andrew
- Jarvis Joanna
- Jenkins Lucy
- Johnson Diana
- Jonasson Amy
- Jones Elizabeth
- Jones Philip,
- Jones Wendy
- Joset Pascal
- Josifova Dragana
- Joss Shelagh
- Kaemba Beckie
- Kaplanis Joanna
- Kazembe Sandra
- Kelsell Rosemary
- Keren Boris
- Kerr Bronwyn
- King Daniel
- Kingston Helen
- Kini Usha
- Kinning Esther
- Kirby Gail
- Kirk Claire
- Kivuva Emma
- Kok Fernando
- Kraus Alison
- Krishnappa Netravathi
- Kroes Hester
- Kumar Dhavendra
- Kumar V.
- Lachlan Katherine
- Lam Wayne
- Lampe Anne
- Langman Caroline
- Lavillaureix Alinoë
- Lees Melissa
- Lim Derek
- Longman Cheryl
- Lowther Gordon
- Lu Xin
- Luria Victor
- Lynch Sally
- Maas Saskia
- Maegawa Gustavo H.B.
- Magee Alex
- Maher Eddy
- Male Alison
- Mansour Sahar
- Marcelis Carlo L.M.
- Mark Paul
- Marks Karen
- Martin Katherine,
- Mason Laura
- Masruha Marcelo
- Maye Una
- McCann Emma
- McConnell Vivienne
- McEntagart Meriel
- McGowan Ruth
- McKay Kirsten
- McKee Shane
- McLaughlin Heather
- McMullan Dominic
- McNerlan Susan
- McRae Jeremy
- McWalter Kirsty
- McWilliam Catherine
- Mehta Sarju
- Melchinger Esther
- Mercimek-Andrews Saadet
- Metcalfe Kay
- Middleton Anna
- Miedzybrodzka Zosia
- Miles Emma
- Mohammed Shehla
- Montgomery Tara
- Moore David
- Morgan Sian,
- Morton Jenny
- Mugalaasi Hood
- Murday Victoria
- Murphy Helen
- Naik Swati
- Nava Caroline
- Nellåker Chris
- Nemeth Andrea
- Nevitt Louise
- Newbury-Ecob Ruth
- Norman Andrew
- Ogilvie Caroline
- Ong Kai-Ren
- O’Donnell-Luria Anne
- O’Shea Rosie
- Pais Lynn
- Park Soo-Mi
- Parker Michael
- Patel Chirag
- Paterson Joan
- Payne Stewart
- Pendziwiat Manuela
- Perrett Daniel
- Person Richard,
- Phipps Julie
- Pilz Daniela,
- Pollard Martin
- Pottinger Caroline
- Poulton Joanna
- Pratt Norman
- Prescott Katrina
- Price Sue
- Pridham Abigail
- Prigmore Elena
- Procter Annie
- Purnell Hellen
- Quarrell Oliver
- Ragge Nicola
- Rahbari Raheleh
- Rajan Diana
- Ramelli Gian Paolo
- Ramos Luiza L.P.
- Randall Josh
- Rankin Julia
- Rauch Anita
- Raymond Lucy
- Reavey Caitlin
- Renieri Alessandra
- Rice Debbie
- Rieß Angelika
- Robert Leema
- Roberts Eileen
- Roberts Gillian
- Roberts Jonathan
- Roberts Paul
- Rodan Lance,
- Ross Alison
- Rosser Elisabeth
- Saggar Anand
- Samant Shalaka
- Sampson Julian
- Sanchez-Valle Amarilis
- Sandford Richard
- Sarkar Ajoy
- Sattar Shifteh
- Saunders Carol
- Schwarz Niklas
- Schweiger Susann
- Scott Richard
- Scurr Ingrid
- Selby Ann
- Seller Anneke
- Sequeira Cheryl
- Shannon Nora
- Sharif Saba
- Shaw-Smith Charles
- Shearing Emma
- Shears Debbie
- Sheridan Eamonn
- Sifrim Alejandro
- Simonic Ingrid
- Singh Tarjinder
- Singzon Roldan
- Skitt Zara
- Smith Audrey
- Smith Kath
- Smithson Sarah
- Smol Thomas
- Sneddon Linda
- Splitt Miranda
- Squires Miranda
- Srour Myriam
- Steindl Katharina
- Stewart Fiona
- Stewart Helen
- Straub Volker
- Suri Mohnish
- Sutton Vivienne
- Sveden Abigail
- Swaminathan Ganesh Jawahar
- Sweeney Elizabeth
- Syrbe Steffen
- Tatton-Brown Kate
- Taylor Cat
- Taylor Jenny
- Taylor Rohan
- Tein Mark
- Telegrafi Aida
- Temple I. Karen
- Thiffault Isabelle
- Thomson Jenny
- Tischkowitz Marc
- Tivey Adrian
- Tomkins Susan
- Torokwa Audrey
- Trauner Doris
- Treacy Becky
- Turner Claire
- Turnpenny Peter
- Tysoe Carolyn
- van der Linden Helio
- van Koningsbruggen Silvana
- Vandersteen Anthony,
- Varghese Vinod
- Vasudevan Pradeep
- Vijayarangakannan Parthiban
- Villard Laurent
- Vogel Ida
- Vogt Julie
- Wakeling Emma
- Wallwark Sarah
- Waters Jonathon
- Weber Astrid
- Weber Yvonne
- Wellesley Diana
- Wentzensen Ingrid
- Whiteford Margo
- Widaa Sara
- Widjaja Elysa
- Wilcox Sarah
- Wilkinson Emily
- Williams Denise
- Williams Nicola
- Wilson Louise
- Wood Jordan
- Woods Geoff
- Wragg Christopher
- Wright Caroline
- Wright Michael
- Yates Laura
- Yau Michael
- Zak Jaroslav
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2019
- Field of study
We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
- Author
- Ahmed Munaza
- Aitken Stuart
- Aitman Timothy
- Akawi Nadia
- Al Turki Saeed
- Alachkar Hana
- Ali Sonia
- Allen Hana Lango
- Allen Louise
- Allsup David
- Alvi Mohsan
- Ambegaonkar Gautum
- Ambridge Kirsty
- Anderson Carl
- Anderson Julie
- Anjum Uruj
- Anney Richard
- Antony Dinu
- Antrobus Richard
- Archer Hayley
- Armstrong Ruth
- Armstrong Ruth
- Arno Gavin
- Artigas Maria Soler
- Arumugakani Gururaj
- Ashford Sofie
- Astle William
- Attwood Antony
- Austin Steve
- Awada Jana
- Ayub Muhammad
- Bacchelli Chiara
- Bakchoul Tamam
- Balasubramaniam Senduran
- Balasubramanian Meena
- Banka Siddharth
- Baralle Diana
- Bariana Tadbir K.
- Barnicoat Angela
- Barrett Daniel M.
- Barrett Jeffrey C.
- Barrett Jeffrey C.
- Barroso Inês
- Batstone Paul
- Baty David
- Baxendale Helen
- Bayzetinova Tanya
- Beales Phil
- Bennett Chris
- Bennett David
- Bentham Jamie
- Berg Jonathan
- Bernhard Birgitta
- Bethune Claire
- Bevan A. Paul
- Bhattacharya Shoumo
- Bibi Shahnaz
- Birney Ewan
- Bitner-Glindzicz Maria
- Bitner-Glindzicz Maria
- Blackwood Douglas
- Blair Edward
- Bleda Marta
- Blyth Moira
- Bobrow Martin
- Bochukova Elena
- Boggard Harm
- Bohanna David
- Bolton Patrick
- Bolton-Maggs Paula
- Booth Claire
- Bounds Rebecca
- Bourdon Louise
- Bourn David
- Boustred Chris
- Bradley John R.
- Bradley Lisa
- Brady Angela
- Brady Angie
- Breen Gerome
- Brent Simon
- Brewer Carole
- Brown Matthew
- Browning Michael
- Brunstrom Kate
- Bryant Emily
- Bryson Christine
- Bunyan David J.
- Burn John
- Burns Siobhan
- Calissano Mattia
- Calleja Paul
- Canham Natalie
- Canham Natalie
- Carmichael Jenny
- Carss Keren
- Carss Keren
- Carss Keren J.
- Carvill Gemma L.
- Castle Bruce
- Caulfield Mark
- Chalmers Elizabeth
- Chandler Kate
- Chandra Anita
- Chatterjee Krishna
- Chatzimichali Elena
- Chen Lu
- Chinnery Patrick
- Chitre Manali
- Church Colin
- Ciampi Antonio
- Cilliers Deirdre
- Cirak Sebhattin
- Clapham Peter
- Clarke Angus
- Clasper Susan
- Clayton Stephen
- Clayton-Smith Jill
- Clayton-Smith Jill
- Clement Emma
- Clement Gail
- Clements-Brod Naomi
- Clowes Virginia
- Clowes Virginia
- Coates Andrea
- Coates Guy
- Coghlan Gerry
- Cole Trevor
- Colgiu Irina
- Collier David
- Collins Amanda
- Collins Peter
- Collinson Morag N.
- Connell Fiona
- Cooper Nichola
- Cooper Nicola
- Cosgrove Catherine
- Cox Helen
- Cox Tony
- Craddock Nick
- Creaser-Myers Amanda
- Cresswell Lara
- Crooks Lucy
- Cross Gareth
- Cross J. Helen
- Crow Yanick
- Curran Sarah
- Curtis David
- D?Alessandro Mariella
- Dabir Tabib
- DaCosta Rosa
- Daly Allan
- Daugherty Louise
- Davidson Rosemarie
- Davies Sally
- Davies Sophie
- Davis John
- Day Ian N.M.
- Day-Williams Aaron
- de Vries Dylan
- De Vries Minka
- Dean John
- Debelle Geoff D.
- Deegan Patrick
- Deevi Sri V.V.
- Deshpande Charu
- Deshpande Charu
- Devlin Gemma
- Devlin Lisa
- Dewhurst Eleanor
- Dixit Abhijit
- Dobbie Angus
- Doffinger Rainer
- Donaldson Alan
- Donnai Dian
- Donnelly Carina
- Donnelly Deirdre
- Dormand Natalie
- Douglas Angela
- Douzgou Sofia
- Down Thomas
- Drewe Elizabeth
- Du Yuanping
- Duncan Alexis
- Dunham Ian
- Eason Jacqueline
- Edgar David
- Edkins Sarah
- Egner William
- Ellard Sian
- Ellis Ian
- Ellis Peter
- Elmslie Frances
- Erber Wendy N.
- Erwood Marie
- Evans David
- Evans Karenza
- Everest Sarah
- Everington Tamara
- Faroogi Sadaf
- Fatemifar Ghazaleh
- Favier Remi
- Fendick Tina
- Firth Helen
- Firth Helen V.
- Fisher Richard
- Fitzgerald Tomas W.
- FitzPatrick David R.
- Fitzpatrick David R.
- Fletcher Debra
- Flicek Paul
- Flinter Frances
- Flinter Frances
- Flyod James
- Foley A. Reghan
- Foulds Nicola
- Fox James C.
- Franklin Christopher S.
- Frary Amy
- Freson Kathleen
- Fry Andrew
- Fryer Alan
- Furie Bruce
- Furnell Abigail
- Futema Marta
- Gale Daniel
- Gallagher Louise
- Gardham Alice
- Gardiner Carol
- Gattens Michael
- Gaunt Lorraine
- Geihs Matthias
- Geschwind Daniel
- Ghali Neeti
- Ghali Neeti
- Ghataorhe Pavandeep K.
- Ghurye Rohit
- Gibbons Richard
- Gibbs Simon
- Gill Harinder
- Gilmour Kimberley
- Gissen Paul
- Goddard Sarah
- Gomez Keith
- Goodship Judith
- Gordins Pavel
- Gorman Kathleen M.
- Goudie David
- Gray Emma
- Green Andrew
- Greene Daniel
- Greene Philip
- Greenhalgh Alan
- Greenhalgh Lynn
- Greinacher Andreas
- Gribble Susan
- Griffin Heather
- Grigoriadou Sofia
- Grozeva Detelina
- Gräf Stefan
- Guo Xiaosen
- Guo Xueqin
- Gurling Hugh
- Haack Tobias B.
- Hackett Scott
- Hadinnapola Charaka
- Hague Rosie
- Haimel Matthias
- Halmagyi Csaba
- Hammerton Tracey
- Harrison Lucy
- Harrison Rachel
- Harrison Victoria
- Hart Daniel
- Hart Deborah
- Hawkins Rose
- Hayman Grant
- He Liu
- Heemskerk Johan W.M.
- Hellens Stephen
- Henderson Alex
- Henderson Robert
- Hendricks Audrey
- Hensiek Anke
- Henskens Yvonne
- Herwadkar Archana
- Hewitt Sarah
- Hildyard Lucy
- Hobson Emma
- Holden Simon
- Holden Simon
- Holder Muriel
- Holder Muriel
- Holder Susan
- Holder Susan
- Hollingsworth Georgina
- Holmans Peter
- Homfray Tessa
- Howie Bryan
- Hu Fengyuan
- Huang Liren
- Hubbard Tim
- Huissoon Aarnoud
- Humbert Marc
- Humphreys Mervyn
- Humphries Steve E.
- Hurles Matthew E.
- Hurles Matthew E.
- Hurst Jane
- Hurst Jane
- Hutton Ben
- Hysi Pirro
- Ingram Stuart
- Iotchkova Valentina
- Irving Melita
- Islam Lily
- Jackson Andrew
- Jackson David K.
- James Roger
- Jamshidi Yalda
- Jan-Kamsteeg Eric
- Jarvis Joanna
- Jenkins Lucy
- Jing Tian
- Johnson Diana
- Jolles Stephen
- Jones Elizabeth
- Jones Philip
- Jones Wendy D.
- Josifova Dragana
- Josifova Dragana
- Joss Shelagh
- Joyce Chris
- Kaemba Beckie
- Kaplanis Joanna
- Kaye Jane
- Kazembe Sandra
- Kazmi Rashid
- Keane Thomas
- Keeling David
- Kelleher Peter
- Kelly Anne M.
- Kelsell Rosemary
- Kemp John
- Kennedy Fiona
- Kennedy Karen
- Keogh Julia
- Kerr Bronwyn
- Kiely David
- King Daniel
- King Mary D.
- Kingston Helen
- Kingston Nathalie
- Kini Usha
- Kinning Esther
- Kirby Gail
- Kirk Claire
- Kivuva Emma
- Kolb-Kokocinski Anja
- Koziell Ania
- Kraus Alison
- Krishnakumar Deepa
- Krishnappa Netravathi
- Kuijpers Taco W.
- Kumar Dhavendra
- Kumar V. K. Ajith
- Kumararatne Dinakantha
- Kurian Manju
- Kurian Manju A.
- Lachance Genevieve
- Lachlan Katherine
- Laffan Michael A.
- Lam Wayne
- Lambert Michele P.
- Lampe Anne
- Langford Cordelia
- Langman Caroline
- Lawrie Allan
- Lawson Daniel
- Lear Sara
- Lee Irene
- Lees Melissa
- Lees Melissa
- Lek Monkol
- Lentaigne Claire
- Li Rui
- Li Yingrui
- Liang Jieqin
- Liesner Ri
- Lim Derek
- Lin Hong
- Linger Rachel
- Liu Ryan
- Longhurst Hilary
- Longman Cheryl
- Lopes Margarida
- Lorenzo Lorena
- Lowther Gordon
- Lynch Sally A.
- Lönnqvist Jouko
- MacArthur Daniel
- Machado Rajiv
- Mackenzie Rob
- MacLaren Robert
- Magee Alex
- Maher Eamonn
- Maher Eamonn R.
- Maher Eddy
- Maimaris Jesmeen
- Male Alison
- Mangles Sarah
- Manson Ania
- Mansour Sahar
- Mapeta Rutendo
- Marchini Jonathan
- Marenne Gaëlle
- Marks Karen
- Markus Hugh S.
- Martin Jennifer
- Martin Katherine
- Masati Larahmie
- Maslen John
- Mason Laura E.
- Massimo Mangino
- Mathias Mary
- Mathieson Iain
- Matser Vera
- Maw Anna
- Maye Una
- McCann Emma
- McConnell Vivienne
- McCullagh Gary
- McDermott Elizabeth
- McEntagart Meriel
- McGowan Ruth
- McGuffin Peter
- McIntosh Andrew
- McJannet Coleen
- McKay Kirsten
- McKechanie Andrew G.
- McKee Shane
- McMullan Dominic J.
- McNerlan Susan
- McQuillin Andrew
- McRae Jeremy F.
- McTague Amy
- McWilliam Catherine
- Meacham Stuart
- Meehan Sharon
- Mefford Heather C.
- Megy Karyn
- Mehta Sarju
- Mehta Sarju
- Metcalfe Kay
- Metrustry Sarah
- Meyer Esther
- Michaelides Michel
- Middleton Anna
- Miedzybrodzka Zosia
- Miles Emma
- Millar Carolyn M.
- Millichap John J.
- Mitchison Hannah
- Moayyeri Alireza
- Mohammed Shehla
- Moledina Shahin
- Montgomery Tara
- Moore Anthony
- Moore David
- Morgan Sian
- Morrell Nicholas
- Morris James
- Morton Jenny
- Morton Jenny
- Mugalaasi Hood
- Mumford Andrew
- Muntoni Francesco
- Murday Victoria
- Murng Sai
- Murphy Elaine
- Murphy Helen
- Naik Swati
- Nejentsev Sergey
- Nellåker Chris
- Nemeth Andrea
- Nevitt Louise
- Newbury-Ecob Ruth
- Noorani Sadia
- Norman Andrew
- Northstone Kate
- Nurden Paquita
- O'Donovan Michael
- O'Rahilly Stephen
- O'Shea Rosie
- Ogilvie Caroline
- Oksenhendler Eric
- Ong Kai-Ren
- Onoufriadis Alexandros
- Oualkacha Karim
- Ouwehand Willem H.
- Owen Michael J.
- Paciorkowski Alex R.
- Palotie Aarno
- Panoutsopoulou Kalliope
- Papadia Sofia
- Park Soo-Mi
- Park Soo-Mi
- Parker Alasdair
- Parker Michael
- Parker Michael J.
- Parker Victoria
- Parr Jeremy R.
- Pasi John
- Patch Chris
- Patel Chirag
- Paternoster Lavinia
- Paterson Joan
- Paterson Joan
- Paunio Tiina
- Payne Felicity
- Payne Jeanette
- Payne Stewart
- Peacock Andrew
- Peerlinck Kathelijne
- Penkett Christopher J.
- Pepke-Zaba Joanna
- Perrett Daniel
- Perry David J.
- Phipps Julie
- Pietilainen Olli
- Pilz Daniela T.
- Plagnol Vincent
- Poduri Annapurna
- Pollard Martin
- Pollock Val
- Polwarth Gary
- Ponsford Mark
- Pottinger Caroline
- Poulton Joanna
- Pratt Norman
- Prescott Katrina
- Pressler Ronit M.
- Price Sue
- Pridham Abigail
- Prigmore Elena
- Procter Annie
- Purnell Hellen
- Qasim Waseem
- Quail Michael A.
- Quarrell Oliver
- Quaye Lydia
- Quinti Isabella
- Ragge Nicola
- Rahbari Raheleh
- Rajan Diana
- Randall Josh
- Rankin Julia
- Rankin Julia
- Rankin Stuart
- Raymond F. Lucy
- Raymond F. Lucy
- Raymond Lucy
- Raymond Lucy
- Rehnstrom Karola
- Rehnström Karola
- Reich Adi
- Reid Evan
- Rhodes Christopher J.
- Rice Debbie
- Richards Michael
- Richardson Sylvia
- Richter Alex
- Ring Susan
- Ritchie Graham R.S.
- Robert Leema
- Roberts Eileen
- Roberts Gillian
- Roberts Irene
- Roberts Jonathan
- Roberts Nicola
- Roberts Paul
- Rondina Matthew
- Ross Alison
- Rosser Elisabeth
- Rosser Elisabeth
- Roughley Catherine
- Rue-Albrecht Kevin
- Saggar Anand
- Samant Shalaka
- Samarghitean Crina
- Sampson Julian
- Sanchis-Juan Alba
- Sanchis-Juan Alba
- Sandford Richard
- Sandford Richard
- Santra Saikat
- Sargur Ravishankar
- Sarkar Ajoy
- Savage David B.
- Savic Sinisa
- Scambler Peter
- Scheffer Ingrid E.
- Schiffels Stephen
- Schmidts Miriam
- Schneider Amy L.
- Schoenmakers Nadia
- Schulman Sol
- Schulze Harald
- Schweiger Susann
- Scott Richard
- Scott Richard
- Scully Marie
- Scurr Ingrid
- Selby Ann
- Seller Anneke
- Semple Robert K.
- Seneviratne Suranjith
- Sequeira Cheryl
- Serra Eva
- Sewell Carrock
- Shamardina Olga
- Shannon Nora
- Sharif Saba
- Sharp Sally I.
- Shaw-Smith Charles
- Shearing Emma
- Shears Debbie
- Sheridan Eamonn
- Shin So-Youn
- Shipley Debbie
- Sieciechowicz Diana
- Sifrim Alejandro
- Simeoni Ilenia
- Simonic Ingrid
- Simpson Michael A.
- Singh Tarjinder
- Singzon Roldan
- Sivapalaratnam Suthesh
- Skitt Zara
- Skuse David
- Small Kerrin
- Smith Audrey
- Smith Kath
- Smith Kenneth
- Smithson Sarah
- Sneddon Linda
- Sohal Aman
- Southam Lorraine
- Southgate Laura
- Spasic-Boskovic Olivera
- Spinelli Egidio
- Splitt Miranda
- Squires Miranda
- St Clair David
- St Pourcian Beate
- Staines Simon
- Stalker Jim
- Staples Emily
- Stauss Hans
- Stein Penelope
- Stephens Jonathan
- Stevens Elizabeth
- Stewart Fiona
- Stewart Helen
- Stirrups Kathleen
- Stock Sophie
- Straub Volker
- Sun Jianping
- Suntharalingam Jay
- Suri Mohnish
- Sutton Vivienne
- Suvisaari Jaana
- Swaminathan Ganesh Jawahar
- Sweeney Elizabeth
- Tachmazidou Ionna
- Tait R. Campbell
- Talks Kate
- Tan Yvonne
- Tatton-Brown Kate
- Taylor Cat
- Taylor Rohan
- Tein Mark
- Temple I. Karen
- Thachil Jecko
- Thaventhiran James
- Thomas Ellen
- Thomas Moira
- Thompson Dorothy
- Thomson Jenny
- Thrasher Adrian
- Tischkowitz Marc
- Tischkowitz Marc
- Titterton Catherine
- Tivey Adrian R.
- Tobin Martin D.
- Toh Cheng-Hock
- Tomkins Susan
- Torokwa Audrey
- Toshner Mark
- Treacy Becky
- Treacy Carmen
- Trembath Richard
- Tuna Salih
- Turek Wojciech
- Turner Claire
- Turnpenny Peter
- Turro Ernest
- Tysoe Carolyn
- Valdes Ana
- Van Geet Chris
- Van Kogelenberg Margriet
- Vandersteen Anthony
- Varghese Vinod
- Vasudevan Pradeep
- Veltman Marijke
- Vijayarangakannan Parthiban
- Vijayarangakannan Parthiban
- Visscher Peter M.
- Vogt Julie
- Vogt Julie
- von Ziegenweldt Julie
- Vonk Noordegraaf Anton
- Wain Louise V.
- Wakeling Emma
- Wakeling Emma
- Wallwark Sarah
- Walters James T.R.
- Wang Guangbiao
- Wang Jun
- Wang Yu
- Wanjiku Ivy
- Ward Kirsten
- Warner Timothy Q.
- Wassmer Evangeline
- Wassmer Evangeline
- Waters Jonathon
- Watkins Hugh
- Weber Astrid
- Webster Andrew
- Welch Steve
- Wellesley Diana
- Westbury Sarah
- Wharton John
- Wheeler Elanor
- Whiteford Margo
- Whitehorn Deborah
- Whyte Tamieka
- Widaa Sara
- Wilcox Sarah
- Wilkins Martin
- Wilkinson Emily
- Willcocks Lisa
- Williams Denise
- Williams Hywel
- Williams Nicola
- Williamson Catherine
- Williamson Kathleen A.
- Wilson Crispian
- Wilson Louise
- Wong Kim
- Woods Geoff
- Woods Geoffrey
- Wort John
- Wragg Christopher
- Wright Caroline F.
- Wright Michael
- Xu ChangJiang
- Yang Jian
- Yates Laura
- Yau Michael
- Yeatman Nigel
- Yong Patrick
- Young Tim
- Yu Ping
- Zhang Fend
- Zhang Pingbo
- Publication venue
- AJHG
- Publication date
- 01/01/2019
- Field of study
The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship)
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
- Author
- Afenjar Alexandra
- Agbahovbe Ruky
- Ahmed Munaza
- Aitken Stuart
- Akawi Nadia
- Alvi Mohsan
- Ambridge Kirsty
- Anderson Ilse J
- Anjum Uruj
- Archer Hayley
- Armstrong Ruth
- Assoum Mirna
- Au PY Billie
- Awada Jana
- Bader Ingrid
- Balasubramanian Meena
- Banka Siddharth
- Baralle Diana
- Barnicoat Angela
- Barrett Daniel M
- Barrett Jeffrey C
- Batstone Paul
- Baty David
- Bayzetinova Tanya
- Bennett Chris
- Berg Jonathan
- Bernhard Birgitta
- Bevan A Paul
- Bialer Martin G
- Bierhals Tatjana
- Bitner-Glindzicz Maria
- Blair Edward
- Blok Lot Snijders
- Blyth Moira
- Bohanna David
- Bourdon Louise
- Bourn David
- Bownass Lucy
- Bradley Lisa
- Brady Angela
- Brent Simon
- Brewer Carole
- Brilstra Eva H
- Brunner Han G
- Brunstrom Kate
- Bunyan David J
- Buratti Julien
- Burn John
- Campeau Philippe M
- Canham Natalie
- Castle Bruce
- Chae Jong H
- Chandler Kate
- Chatzimichali Elena
- Choi Murim
- Cilliers Deirdre
- Clarke Angus
- Clasper Susan
- Clayton Stephen
- Clayton-Smith Jill
- Clowes Virginia
- Coates Andrea
- Cohen Ana SA
- Cole Trevor
- Colgiu Irina
- Collins Amanda
- Collinson Morag N
- Connell Fiona
- Cooper Nicola
- Cox Helen
- Cresswell Lara
- Cross Gareth
- Crow Yanick
- D'Alessandro Mariella
- Dabir Tabib
- Davidson Rosemarie
- Davies Sally
- de Vries Dylan
- Dean John
- Deriziotis Pelagia
- Deshpande Charu
- Devlin Gemma
- Dixit Abhijit
- Dobbie Angus
- Donaldson Alan
- Donnai Dian
- Donnelly Carina
- Donnelly Deirdre
- Douglas Angela
- Douglas Ganka
- Douglas Jessica
- Douzgou Sofia
- Duncan Alexis
- Eason Jacqueline
- Ehresmann Sophie
- Ellard Sian
- Ellis Ian
- Elmslie Frances
- Evans Karenza
- Everest Sarah
- Faivre Laurence
- Fendick Tina
- Fiala Elise
- Firth Helen V
- Fisher Richard
- Fisher Simon E
- Fitzgerald Tomas W
- FitzPatrick David R
- Flinter Frances
- Foulds Nicola
- Fry Andrew
- Fryer Alan
- Gardiner Carol
- Gaunt Lorraine
- Ghali Neeti
- Gibbons Richard
- Gibson William T
- Gill Harinder
- Goodship Judith
- Goudie David
- Gray Emma
- Green Andrew
- Greene Philip
- Greenhalgh Lynn
- Gribble Susan
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- Harrison Rachel
- Harrison Victoria
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- He Liu
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- Henderson Alex
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- Hildyard Lucy
- Hobson Emma
- Holden Simon
- Holder Muriel
- Holder Susan
- Hollingsworth Georgina
- Homfray Tessa
- Humphreys Mervyn
- Hurles Matthew E
- Hurst Jane
- Hutton Ben
- Ingram Stuart
- Innes A Micheil
- Irving Melita
- Isapof Arnaud
- Islam Lily
- Jackson Andrew
- Jakielski Kathy J
- Jansen Sandra
- Jarvis Joanna
- Jenkins Lucy
- Johnson Diana
- Jones Elizabeth
- Jones Philip
- Jones Wendy D
- Josifova Dragana
- Joss Shelagh
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- Kaplanis Joanna
- Kazembe Sandra
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- Kingston Helen
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- Kumar Dhavendra
- Kumar VK Ajith
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- Lee Sangmoon
- Lees Melissa
- Lelieveld Stefan
- Lewandowski Raymond
- Lim Derek
- Longman Cheryl
- Louie Raymond J
- Lowther Gordon
- Lynch Sally A
- Machida Shinichi
- Magee Alex
- Maher Eddy
- Male Alison
- Mansour Sahar
- Marks Karen
- Martin Katherine
- Mason Laura E
- Maye Una
- Mayr Johannes A
- McCann Emma
- McConnell Vivienne
- McEntagart Meriel
- McGowan Ruth
- McKay Kirsten
- McKee Shane
- McMullan Dominic J
- McNerlan Susan
- McRae Jeremy F
- McWilliam Catherine
- Mehta Sarju
- Metcalfe Kay
- Middleton Anna
- Miedzybrodzka Zosia
- Miles Emma
- Mohammed Shehla
- Monroe Glen R
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- Moore David
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- Parker Michael J
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- Pfundt Rolph
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- Vijayarangakannan Parthiban
- Vogt Julie
- Wade Paul A
- Wakeling Emma
- Wallwark Sarah
- Warren Hannah E
- Waters Jonathon
- Weber Astrid
- Wellesley Diana
- Wentzensen Ingrid M
- Wheeler Patricia
- Whiteford Margo
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- Wilkinson Emily
- Williams Denise
- Williams Nicola
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- Wilson Louise
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- Wright Michael
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- Zweier Christiane
- Publication venue
- Publication date
- 01/01/2018
- Field of study
The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has now been corrected in both the PDF and HTML versions of the Article
New networks and new knowledge: migrations, communications and the refiguration of the Muslim community in the nineteenth and early twentieth centuries
- Author
- Abbas
- Abd-Allah
- Abdella Doumato
- Abdo
- Abdo
- Abou El Fadl
- Abou El Fadl
- Abouseif
- Abraham
- Abrahamian
- Abrahamian
- Abrahamian
- Abu Namay
- Abu Zahra
- Abu-Lughod
- Abu-Lughod
- Abu-Lughod
- Abu-Lughod
- Abu-Odeh
- Abu-Odeh
- Abu-Odeh
- Abu-Rabiʿ
- Abu-Rabiʿ
- Abun-Nasr
- Adam
- Adams
- Adamson
- Affendi
- Afkhami
- Agai
- Ahmad
- Ahmad
- Ahmad
- Ahmad
- Ahmed
- al-Afghānī
- al-Attas
- al-Azmeh
- al-Bannā
- al-Bannā
- al-Dajānī
- al-Dhahabī
- al-Dīn
- al-Fahad
- al-Ghazālī
- al-Haidari
- al-Haq
- al-Jazāirī
- al-Kashmīrī
- al-Kashmīrī
- al-Kashmīrī
- al-Khamis
- Al-Khamis
- Al-Marbawī
- Al-Marbawī
- Al-Marbawī
- Al-Marbawī
- al-Marṣafī
- al-Nisa
- al-Qaraḍāwī
- al-Qaraḍāwī
- al-Qaraḍāwī
- al-Qaraḍāwī
- al-Qaraḍāwī
- al-Qaraḍāwī
- al-Qaraḍāwī
- al-Qaraḍāwī
- al-Qaraḍāwī
- al-Qaraḍāwī
- al-Qaraḍāwī
- al-Quṭb
- al-Said
- al-Sanūsī
- al-Sanūsī
- al-Sanūsī
- al-Sawi
- al-Sharif
- al-Sharqāwī
- al-Shawkānī
- al-Shawkānī
- al-Shawkānī
- Al-Shawkānī
- al-Shawkānī
- Al-Shawkānī
- al-Shawkānī
- al-Shayyāl
- al-Shirajī
- al-Tunisi
- al-Tūnisī
- Al-Yassini
- al-ʿAmri
- al-ʿAshmāwī
- al-Ṣadr
- al-Ṣanʿānī
- al-Ṣanʿānī
- al-Ṣulḥ
- al-Ṭahṭāwī
- al-Ṭahṭāwī
- Alagha
- Alam
- Alcalay
- Ali
- Ali
- Ali
- Aliksān
- Allen
- Allievi
- Allievi
- Alsayyad
- alSayyad
- Alterman
- Aminrazavi
- Amīn
- An-Na`im
- An-Na`im
- An-Naiʿm
- An-Naʿim
- An-Naʿim
- An-Naʿim
- An-Naʿim
- Anderson
- Anderson
- Anderson
- Anderson
- Ankori
- Ansari
- Arasoughly
- Arjomand
- Arjomand
- Arjomand
- Arjomand
- Arjomand
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- Arjomand
- Arjomand
- Arjomand
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- ʿUthmānī
- Ṣābāt
- Ṭarāwina
- Publication venue
- 'Cambridge University Press (CUP)'
- Publication date
- 01/01/2000
- Field of study
Health-status outcomes with invasive or conservative care in coronary disease
- Author
- Alexander K.P.
- Baloch K.
- Bangalore S.
- Boden W.E.
- Cohen D.J.
- Diaz A.
- Gosselin G.
- Harrell F.E.
- Hochman J.S.
- ISCHEMIA Research Group: Joseph Ricci A Tello Montoliu, A I Robero Aniorte, Abbey Mulder, Abhay A Laddu, Abhinav Goyal, Abhishek Dubey, Abhishek Goyal, Abigail Knighton, Abraham Oomman, Adam J Jaskowiak, Adam Kolodziej, Adam Witkowski, Adnan Hameed, Adriana Anesini, Afshan Hussain, Agne Juceviciene, Agne Urboniene, Agnes Jakal, Agnieszka Szramowska, Ahmad Khairuddin, Ahmed Abdel-Latif, Ahmed Adel, Ahmed Aljzeeri, Ahmed Kamal, Ahmed Talaat, Aimee Mann, Aira Contreras, Ajit Kumar, V K Kumar, Akemi Furukawa, Akshay Bagai, Akvile Smigelskaite, Alain Furber, Alain Rheault, Alaine Melanie Loehr, Alan Rosen, Albert Varga, Albertina Qelaj, Alberto Barioli, Aldo Russo, Alec Moorman, Alejandro Gisbert, Aleksandra Fratczak, Aleksandras Laucevicius, Alena Kuleshova, Alessandro Sionis, Alexander A Sirker, Alexander M Chernyavskiy, Alexandra Craft, Alexandra Vazquez, Alexandre Ciappina Hueb, Alexandre S Colafranseschi, Alexandre Schaan de Quadros, Alexandre Tognon, Ali Alghamdi, Alice Manica Muller, Aline Nogueira Raba\ue7a, Aline Peixoto Deiro, Alison Hallam, Allegra Stone, Allison Schley, Almudena Castro, Alvaro Rabelo Ales, Amanda Germann, Amanda O'Malley, Amar Uxa, Amarachi Ojajuni, Amarino C Oliveira Jr, Amber B Hull, Ambuj Roy, Amer Zarka, Amir Janmohamed, Ammani Brown, Ammy Malinay, Amparo Martinez Monzonis, Amy J Richards, Amy Iskandrian, Amy Ollinger, Ana D Djordjevic-Dikic, Ana Fern\ue1ndez Mart\uednez, Ana Gomes Almeida, Ana Paula Batista, Ana Rita Francisco, Ana S Mladenovic, Ana Santana, Anam Siddiqui, Anastasia M Kuzmina-Krutetskaya, Andras Vertes, Andre S Sousa, Andre Gabriel, Andr\ue9 Schmidt, Andrea M Lundeen, Andrea Bartykowszki, Andrea Lorimer, Andrea Mortara, Andrea Pascual, Andreia Coelho, Andreia Rocha, Andr\ue9s Garc\ueda-Rinc\uf3n, Andrew G Howarth, Andrew J Moriarty, Andrew Docherty, Andrew Starovoytov, Andrew Zurick, Andrzej \u141abyk, Andrzej Swiatkowski, Andy Lam, Anelise Kawakami, Angela Hoye, Angela Kim, Angelique Smit, Angelo Nobre, Anil V Shah, Anja Ljubez, Anjali Anand, Ankush Sachdeva, Ann Greenberg, Ann Luyten, Ann Ostrander, Anna Di Donato, Anna Cichocka-Radwan, Anna Fojt, Anna Plachcinska, Anna Proietti, Anna Teresinska, Anne Marie Webb, Anne Cartwright, Anne Heath, Anne Mackin, Anong Amaritakomol, Anong Chaiyasri, Anoop Chauhan, Anoop Mathew, Anthony Gemignani, Anto Luigi Andres, Antonia Vega, Antonietta Hansen, Antonino Ginel Iglesias, Antonio Carlos Carvalho, Antonio Di Chiara, Antonio Serra Pe\uf1aranda, Antonio Carvalho, Antonio Colombo, Antonio Fiarresga, Anupama Rao, Aquiles Valdespino-Estrada, Araceli Boan, Areef Ishani, Ariel Diaz, Arijit Ghosh, Arintaya Prommintikul, Arline Roberts, Arnold H Seto, Arnold P Good, Arshed Quyyumi, Arthur J Labovitz, Arthur Kerner, Arturo S Campos-Santaolalla, Arunima Misra, Ashok Mukherjee, Ashok Seth, Ashraf Seedhom, Asim N Cheema, Asker Ahmed, Atul Mathur, Atul Verma, Audrey W Leong, Axel \uc5kerblom, Axelle Fuentes, Aynun Naher, Badhma Valaiyapathi, Baljeet Kaur, Bandula Guruge, Barbara Brzezi\u144ska, Barbara Nardi, Bartosz Czarniak, Bebek Singh, Bego\uf1a Igual, Bela Merkely, Belen Cid Alvarez, Benjamin J Spooner, Benjamin J W Chow, Benjamin Cheong, Benoy N Shah, Bernard de Bruyne, Bernardas Valecka, Bernhard J\ue4ger, Beth A Archer, Beth Abramson, Beth Jorgenson, Bethany Harvey, Betsy O'Neal, Bev Atkinson, Bev Bozek, Bevin Lang, Bijulal Sasidharan, Bin Yang, Bin Zhang, Binoy Mannekkattukudy Kurian, Bjoern Goebel, Bob Hu, Bogdan A Popescu, Bogdan Crnokrak, Bolin Zhu, Bonnie J Kirby, Brandi D Zimbelman, Brandy Starks, Branko D Beleslin, Brenda Hart, Brian P Shapiro, Brian McCandless, Brianna Wisniewski, Brigham R Smith, Brooks Mirrer, Bruce McManus, Bruce Rutkin, Bruna Edilena Paulino, Bruna Maria Ascoli, Bryn Smith, Byron J Allen, C Michael Gibson, C Noel Bairey Merz, Calin Pop, Cameron Hague, Camila Thais de Ormundo, Candace Gopaul, Candice P Edillo, Car\uedsi A Polanczyk, Carita Krannila, Carla Vicente, Carl-\uc9ric Gagn\ue9, Carlo Briguori, Carlos Pe\uf1a Gil, Carlos Alvarez, Carly Ohmart, Carmen C Beladan, Carmen Ginghina, Carol M Kartje, Caroline Alsweiler, Caroline Brown, Caroline Callison, Caroline Pinheiro, Caroline Rodgers, Caroline Spindler, Carolyn Corbett, Carrie Drum, Casey Riedberger, Catherine Bone, Catherine Fleming, Catherine Gordon, Catherine Jahrsdorfer, Catherine Lemay, Catherine Weick, Cathrine Patten, Cecilia Goletto, Cezary Kepka, Chandini Suvarna, Chang Xu, Chantale Mercure, Charle A Viljoen, Charlene Wiyarand, Charles Jia-Yin Hou, Charles Y Lui, Charles Cannan, Charles Cornet, Charlotte Pirro, Chataroon Rimsukcharoenchai, Chen Wang, Cheng-Ting Tsai, Chen-Yen Chien, Cheryl A Allardyce, Chester M Hedgepeth, Chetan Patel, Chiara Attanasio, Chih-Hsuan Yen, Chi-Ming Chow, Ching Min Er, Ching-Ching Ong, Cholenahally Nanjappa Manjunath, Chris Beck, Chris Buller, Christel Vassaliere, Christian Hamm, Christiano Caldeira, Christie Ballantyne, Christina Bj\uf6rklund, Christine R Hinton, Christine Bergeron, Christine Masson, Christine Roraff, Christine Shelley, Christophe Laure, Christophe Thuaire, Christopher Kinsey, Christopher McFarren, Christopher Spizzieri, Christopher Travill, Chun-Chieh Liu, Chung-Lieh Hung, Chunguang Li, Chun-Ho Yun, Chunli Xia, Ciarra Heard, Cidney Schultz, Clare Venn-Edmonds, Claudia P Hochberg, Claudia Wegmayr, Claudia Cort\ue9s, Claudia Escobar, Cl\ue1udia Freixo, Claudio T Mesquita, Clemens T Kadalie, Colin Berry, Constance Philander, Corine Thobois, Costantino Costantini, Courtney Page, Craig Atkinson, Craig Barr, Craig Paterson, Cristina Bare, Cynthia Baumann, Cynthia Burman, Dalisa Espinosa, Damien Collison, Dan Deleanu, Dan Elian, Dan Gao, Dana Oliver, Daniel P Vezina, Daniel O'Rourke, Daniele Komar, Danielle Schade, Darrel P Francis, Dastan Malaev, David A Bull, David E Winchester, David P Faxon, David Booth, David Cohen, David DeMets, David Foo, David Schlichting, David Taggart, David Waters, David Wohns, Davis Vo, Dawid Teodorczyk, Dawn Shelstad, Dawn Turnbull, Dayuan Li, Dean Kereiakes, Deborah O'Neill, Deborah Yip, Debra K Johnson, Debra Dees, Deepak L Bhatt, Deepika Gopal, Deepti Kumar, Deirdre Mattina, Deirdre Murphy, Delano R Small, Delsa K Rose, Dengke Jiang, Denis Carl Phaneuf, Denise Braganza, Denise Fine, Derek Cyr, Desiree Tobin, Diana Cukali, Diana Parra, Diane Camara, Diane Minshall Liu, Diego Adri\ue1n Vences, Diego Franca de Cunha, Dimitrios Stournaras, Dipti Patel, Dongze Li, Donna Exley, Dorit Grahl, Dragana Stanojevic, Duarte Cacela, Dwayne S G Conway, E Pinar Bermudez, Eapen Punnoose, Edgar L Tay, Edgar Karanjah, Edoardo Verna, Eduardo Hernandez-Rangel, Edward D Nicol, Edward O McFalls, Edward T Martin, Edyta Kaczmarska, Ekaterina I Lubinskaya, Elena A Demchenko, Elena Refoyo Salicio, Eli Feen, Elih\ufa Dur\ue1n-Cort\ue9s, Elisabeth M Janzen, Elise L Hannemann, Elise van Dongen, Elissa Restelli Piloto, Eliza Kaplan, Elizabeta Srbinovska Kostovska, Elizabeth Capasso-Gulve, Elizabeth Congdon, Elizabeth Ferguson, Elizaveta V Zbyshevskaya, Ellen Magedanz, Ellie Fridell, Ellis W Lader, Elvin Kedhi, Emanuela Racca, Emilie Tachot, Emily DeRosa, Encarnaci\uf3n Alonso-\uc1lvarez, Eric Nicollet, Eric Peterson, Erick Alex\ue1nderson Rosas, Erick Donato Morales, Erin Orvis, Ermina Moga, Estelle Montpetit, Estevao Figueiredo, Eugene Passamani, Eugenia Nikolsky, Eunice Yeoh, Evgeniy I Kretov, Ewa Szczerba, Ewelina Wojtala, Expedito Eust\ue1quio Ribeiro Silva, F Marin Ortu\uf1o, Fabio R Farias, Fabio Fimiani, Fabrizio Rolfo, Fa-Chang Yu, Fadi Hage, Fadi Matar, Fahim Haider Jafary, Fang Feng, Fang Liu, Fatima Ranjbaran, Fatima Rodriguez, Fausto J Pinto, Fauzia Rashid, Federica Ramani, Fei Wang, Fernanda Igansi, Filipa Silva, Filippo Ottani, Fiona Haines, Firas Al Solaiman, Fl\ue1via Egydio, Flavio Lyra, Florian Egger, Fran Farquharson, Frances Laube, Francesc Carreras Costa, Francesca de Micco, Francesca Bianchini, Francesca Pezzetta, Francesca Pietrucci, Francesco Orso, Francesco Pisano, Francis Burt, Francisca Patuleia Figueiras, Francisco Fernandez-Aviles, Francois Pierre Mongeon, Frans Van de Werf, Franziska Guenther, Fraser N Witherow, Fred Mohr, Frederico Dall'Orto, Fumiyuki Otsuka, G De La Morena, G Karthikeyan, Gabor Dekany, Gabor Kerecsen, Gabriel Galeote, Gabriel Grossmann, Gabriel Vorobiof, Gabriela Sanchez de Souza, Gabriela Guzman, Gabriela Zeballos, Gabriele Gabrielli, Gabriele Jakl-Kotauschek, Gail A Shammas, Gail Brandt, Gang Chen, Gary E Lane, Gary J Luckasen, Gautam Sharma, Gelmina Mikolaitiene, Gennie Yee, Georg Nickenig, George E Revtyak, George J Juang, Gerald Fletcher, Gerald Leonard, Gerard Patrick Devlin, Gerard Esposito, Gergely \uc1goston, Gervasio Lamas, Geza Fontos, Ghada Mikhail, Gia Cobb, Gian Piero Perna, Gianpiero Leone, Giles Roditi, Gilles Barone-Rochette, Girish Mishra, Giuseppe Tarantini, Glenda Wong, Glenn S Hamroff, Glenn Rayos, Gong Cheng, Gonzalo Barge-Caballero, Goran Davidovi\u107, Goran Stankovic, Gordana Stevanovic, Grace Jingyan Wang, Grace M Young, Graceanne Wayser, Graciela Scaro, Graham S Hillis, Graham Wong, Grazyna Anna Szulczyk, Gregor Simonis, Gregory Kumkumian, Gretchen Ann Peichel, Grzegorz Gajos, Gudrun Steinmaurer, Guilherme G Rucatti, Guilherme Portugal, Guilhermina Cantinho Lopes, Guillem Pons Llad\uf3, Gunnar Frostfelt, Gurpreet S Wander, Gurpreet Gulati, Gustavo Pucci, Hafidz Abd Hadi, Haibo Zhang, Haitao Wang, Halina Marciniak, Han Chen, Hanan Kerr, Hani Najm, Hanna Douglas, Hannah Phillips, Hao Dai, Haojian Dong, Haqeel Jamil, Harikrishnan Sivadasanpillai, Harry Suryapranata, Hassan Reda, Hayley Pomeroy, Heather Barrentine, Heather Golden, Heather Hurlburt, Heidi Wilson, Helen C Tucker, Helene Abergel, Hemalata Siddaram, Hermine Osseni, Herwig Schuchlenz, Hesong Zeng, Hicham Skali, Hilda Solomon, Hollie Horton, Holly Hetrick, Holly Little, Holly Park, Hongjie Chi, Hossam Mahrous, Howard A Levite, Hristo Pejkov, Huajun Li, Hugo Bloise-Adames, Hugo Marques, Hui Zhong, Hui-Min Zhang, Humayrah Hashim, Hung-I Yeh, Hussien El Fishawy, Ian Webb, Iftikhar Kullo, Igor O Grazhdankin, Ihab Hamzeh, Ikraam Hassan, Ikuko Ueda, Ileana L Pina, Ilona Tamasauskiene, Ilse Bouwhuis, Imran Arif, Ina Wenzelburger, In\ueas Zimbarra Cabrita, Ines Rodrigues, Inga H Robbins, Inga Soveri, Ingela Schnittger, Iqbal Karimullah, Ira M Dauber, Iram Rehman, Irena Peovska Mitevska, Irene Marthe Lang, Irina Subbotina, Irma Kalibataite-Rutkauskiene, Irni Yusnida, Isabel Estela Carvajal, Isabella C Palazzo, Isabelle Hogan, Isabelle Roy, Ishba Syed, Ishita Tejani, Ivan A Naryshkin, Ivana Jankovic, Iwona Niedzwiecka, J David Knight, Jacek Kusmierek, Jackie M White, Jackie Chow, Jacob Udell, Jacqueline E Tamis-Holland, Jacqueline Fannon, Jacquelyn A Quin, Jacquelyn Do, Jaekyeong Heo, Jakub Maksym, James E Davies, James H O'Keefe Jr, James J Jang, James Cha, James Harrison, James Hirsch, James Stafford, James Tatoulis, Jamie Rankin, Jan Henzel, Jan Orga, Jana Tancredi, Janaina Oliveira, Jane Burton, Jane Eckstein, Jane Marucci, Janet P Knight, Janet Blount, Janet Halliday, Janetta Kourzenkova, Janitha Raj, Jan-Malte Sinning, Jaqueline Pozzibon, Jaroslaw Drozdz, Jaroslaw Karwowski, Jason D Glover, Jason Loh Kwok, Jason T Call, Jason Linefsky, Jassira Gomes, Jati Anumpa, Javier J Garcia, Javier Courtis, Jay Meisner, K Jayakumar, Jayne Scales, Jean E Denaro, Jean Michel Juliard, Jean Ho, Jeanette K Stansborough, Jean-Michel Juliard, Jeanne Russo, Jeannette J M Schoep, Jeet Thambyrajah, Jeff Leimberger, Jeffery A Breall, Jeffrey A Kohn, Jeffrey C Milliken, Jeffrey Anderson, Jeffrey Blume, Jeffrey Kanters, Jeffrey Lorin, Jeffrey Moses, Jelena J Stepanovic, Jelena Celutkiene, Jelena Djokic, Jelena Stojkovic, Jenne M Jose, Jenne Manchery, Jennifer A Mull, Jennifer H Czerniak, Jennifer L Stanford, Jennifer Gillis, Jennifer Horst, Jennifer Isaacs, Jennifer Langdon, Jennifer Thomson, Jennifer Tomfohr, Jennifer White, Jen-Yuan Kuo, Jeremy Rautureau, Jerome Fleg, Jessica Berg, Jessica Rodriguez, Jessica Waldron, Jhina Patro, Jia Li, Jiajia Mao, Jiamin Liu, Jian'an Wang, Jianhua Li, Jianxin Zhang, Jie Qi, Jihyun Lyo, Jill Marcus, Jim Blankenship, Jing Zhang, Jingjing Liu, Jing-Yao Fan, Jiun-Yi Li, Jiwan Pradhan, Jiyan Chen, J M Rivera Caravaca, Jo Evans, Joan Garcia Picart, Joan Hecht, Joanna Jaroch, Joanna Zalewska, Joanne Kelly, Joanne Taaffe, Jo\ue3o Reynaldo Abbud, Jo\ue3o V Vitola, Joaqu\uedn V Pe\uf1afiel, Jocelyne Benatar, Jody Bindeman, Joe Sabik, Joel Klitch, Johann Christopher, Johannes Aspberg, John D Friedman, John F Beltrame, John F Heitner, John Joseph Graham, John R Davies, John Doan, John Kotter, John Kurian, John Mukai, John Pownall, Jolanta Sobolewska, Jon Kobashigawa, Jonathan L Goldberg, Jonathan W Bazeley, Jonathan Byrne, Jonathan Himmelfarb, Jonathan Leipsic, Jonean Thorsen, Jorge F Trejo Gutierrez, Jorge Escobedo, Jorik Timmer, Jos\ue9 A Ortega-Ram\uedrez, Jos\ue9 Antonio Marin-Neto, Jose D Salas, Jose Enrique Castillo, Jose Francisco Saraiva, Jos\ue9 J Cuenca-Castillo, Jose L Diez, Jos\ue9 Luis Narro Villanueva, Jos\ue9 Luiz da Vieira, Jos\ue9 M Flores-Palacios, Jose Ramon Gonzalez, Jose Seijas Amigo, Jose Fragata, Josep Maria Padr\uf3, Josheph F X McGarvey Jr, Joseph Hannan, Joseph Sacco, Joseph Sweeny, Joseph Wiesel, Josephine D Abraham, Joshua P Loh, Joy Burkhardt, Joyce R White, Joyce Riestenberg-Smith, Judit Sebo, Judith L Meadows, Judith Wright, Judy Mae Foltz, Judy Hung, Judy Otis, Juergen Stumpf, Jui-Peng Tsai, Julia S Dionne, Julia de Aveiro Morata, Julie Bunke, Julie Morrow, Julio C\ue9sar Figal, Jun Fujita, Jun Jiang, Junhua Li, Junqing Yang, Juntima Euathrongchit, Jyotsna Garg, K Manjula Rani, K Preethi, Kaatje Goetschalckx, Kai Eggers, Kamalakar Surineni, Kanae Hirase, T R Kapilamoorthy, Karen Calfas, Karen Gratrix, Karen Hallett, Karen Hultberg, Karen Nugent, Karen Petrosyan, Karen Swan, Karolina Kryczka, Karolina Wojtczak-Soska, Karolina Wojtera, Karsten Lenk, Karthik Ramasamy, Katarzyna \u141uczak, Katarzyna Malinowska, Kate Pointon, Kate Robb, Katherine Martin, Kathleen Claes, Kathryn Carruthers, Kathy E Siegel, Katia Drouin, Katie Fowler-Lehman, Kavita Rawat, Kay Rowe, Keiichi Fukuda, Keith A A Fox, Ken Mahaffey, Kendra Unterbrink, Kenneth Giedd, Kerrie Van Loo, Kerry Lee, Kerstin Bonin, Kevin R Bainey, Kevin T Harley, Kevin Anstrom, Kevin Chan, Kevin Croce, Kevin Landolfo, Kevin Marzo, Keyur Patel, Khaled Abdul-Nour, Khaled Alfakih, Khaled Dajani, Khaled Ziada, Khaula Baloch, Khrystyna Kushniriuk, Kian-Keong Poh, Kim F Ireland, Kim Holland, Kimberly Ann Byrne, Kimberly E Halverson, Kimberly Elmore, Kimberly Miller-Cox, Kiran Reddy, Kirsten J Quiles, Kirsty Abercrombie, Klaus Matschke, Konrad Szymczyk, Koo Hui Chan, Kotiboinna Preethi, Kozhaya Sokhon, Krissada Meemuk, Kristian Thygesen, Kristin M Salmi, Kristin Newby, Kristina Wippler, Kristine Arges, Kristine Teoh, Krystal Etherington, Krystyna \u141oboz-Grudzie\u144, Krzysztof W Reczuch, Krzysztof Bury, Krzysztof Drzymalski, Krzysztof Kuku\u142a, Kuo-Tzu Sung, Kurt Huber, Ladda Douangvila, Lance Sullenberger, Larissa Miranda Trama, Laszlone Matics, Laura Drew, Laura Flint, Laura Keinaite, Laura Sarti, Laurel Kolakaluri, Lawrence M Phillips, Lawrence Friedman, Lawrence Phillips, Lazar Velicki, Leah Howell, Leandro C Maranan, Leanne Cox, Ledjalem Daba, Lei Zhang, Lekshmi Dharmarajan, Leo Bockeria, Leonardo Pizzol Caetano, Leonardo Bridi, Leonid L Bershtein, Leszek Sokalski, Li Hai Yan, Li Li, Lia Nijmeijer, Lidia Sousa, Lihong Xu, Lihua Zhang, Lili Zhang, Lilia Schiavi, Lilian Mazza Barbosa, Lillian L Khor, Lina Felix-Stern, Linda L Hall, Linda M Hollenweger, Linda Arcand, Linda Davidson-Ray, Linda Schwarz, Lindsey N Sikora, Lingping Chi, Lino Patricio, Liping Zhang, Lisa Chaytor, Lisa Hatch, Lisa McCloy, Lisa Wong, Liselotte Persson, Lixin Jiang, Liz Low, Ljiljana Pupic, Lo\uefc Bi\ue8re, Lorenzo Monti, Lori Christensen, Lori Pritchard, Loriane Black, Lori-Ann Desimone, Lori-Ann Larmand, Lorraine McGregor, Louise Morby, Louise Thomson, Luc Harvey, Luciana de P\ue1dua Baptista, Lucilla Garcia, Ludivine Eliahou, Ludmila Helmer, Luis F Smidt, Luis Bernanrdes, Luis Guzman, Luiz A Carvalho, Luyang Xiong, Lynette L Teo, Lynn M Neeson, Lynne Winstanley, M Barbara Srichai-Parsia, M Quintana Giner, M Sowjanya Reddy, M Vald\ue9s Ch\ue1varri, M Grazia Rossi, Maarten Simoons, Maayan Konigstein, Maciej Lesiak, Maciej Olsowka, Mafalda Selas, Magalie Corfias, Magdalena Madero Rovalo, Magdalena \u141anocha, Magdalena Miller, Magdalena Misztal-Teodorczyk, Magdalena Rantinella, Magdy Abdelhamid, Magnolia Jimenez, Mahboob Alam, Mahevamma Mylarappa, Mahfouz El Shahawy, Mahmoud Mohamed, Mahmud Al-Bustami, Majo X Joseph, Malgorzata Frach, Ma\u142gorzta Celi\u144ska-Spodar, Malte Helm, Manas Chacko, Mandy Murphy, Manitha Vinod, Manjula Rani, Manu Dhawan, Manuela Mombelli, Marcel Weber, Marcello Galvani, Marcelo Jamus Rodrigues, Marcia F Dubin, Marcia F Werner Bayer, Marcin Szkopiak, Marco Antonio Monsalve, Marco Bizzaro Santos, Marco Magnoni, Marco Marini, Marco Sicuro, Marco Zenati, Marcos Val\ue9rio Coimbra Resende, Marek Roik, Margalit Bentzvi, Margaret Gilsenan, Margaret Iraola, Margot C Quinn, Maria A Alfonso, Maria Antonieta Pereira Moraes, Mar\ueda Dolores Mart\uednez-Ru\uedz, Mar\ueda Fernanda Canales, Maria In\ueas Caetano, Maria P Corral, Maria P\ue9rez Garc\ueda, Maria Victoria Actis, Maria Aguirre, Maria Andreasson, Maria Aprile, Maria Colton, Maria Eugenia Martin, Maria Lasala, Maria Lorenzo, Maria Posada, Maria Shier, Maria Thottam, Mariana V Furtado, Mariana Yumi Okada, Marianna D A Dracoulakis, Marianne De Andrade, Mariano Rubio, Marie Essermark, Marielle Scherrer-Crosbie, Marija T Petrovic, Marija Zdravkovic, Marilyn Black, Marina Garcia, Mario J Garcia, Mariola Szulik, Marisa Orgera, Mark A de Belder, Mark Harbinson, Mark Hyun, Mark Peterson, Mark Xavier, Marlowe Mosley, Marta Capinha, Marta Marcinkiewicz-Siemion, Marta Swiderek, Martha Meyer, Martina Ceseri, Martina Tricoli, Marvin Kronenberg, Mary Williams, Mary Ann Champagne, Mary Colleen Rogge, Mary R Soltau, Mary Streif, Massimo Villella, Massoud Leesar, Matei Claudia, Mateusz Solecki, Mat\uedas Nicol\ue1s Mungo, Matthew Wall Jr, Matthew Budoff, Matthew Jezior, Matthew Luckie, Matthias Friedrich, Mauren P Haeffner, Maximilian Tscharre, Max-Paul Winter, Mayana Almeida, Mayil S Krishnam, Mayuri Patel, Meenakshi Mishra, Megan Manocchia, Meghana Kakade, Melanie J Munro, Melissa D Chaplin, Melissa LeFevre, Mervyn Andiapen, Michael A Gibson, Michael B Rubens, Michael C Turner, Michael D Shapiro, Michael W Lee, Michael Berlowitz, Michael Davidson, Michael Mack, Michael McDaniel, Michael Mumma, Michal Wlodarczyk, Michel G Khouri, Michel S Slama, Michele Rawlins, Michelle M Bonner, Michelle M Seib, Michelle Chang, Michelle Crowder, Michelle Dixon, Michelle Mayon, Michelle McEvoy, Michelle Yee, Miguel M Fernandes, Miguel Nobre Menezes, Miguel Souto Bayarri, Miguel Barrero, Mikhail T Torosoff, Milan R Dobric, Milan Dobric, Milica Nikola Dekleva, Milind Avdhoot Gadkari, Millie Gomez, Min Tun Kyaw, Miriam Brooks, Miroslav Stevo Martinovic, Mitchel B Lustre, Mohammad Tariq Vakani, Mohammad El-Hajjar, Mohammed Al-Amoodi, Mohammed Hussain, Mohammed Saleem, Mois\ue9s Blanco-Calvo, Mois\ue9s Jim\ue9nez-Santos, Mona Bhatia, Monica Rosca, Monika Laukyte, Montserrat Gracida Blanca, Montserrat Vila Perales, Mouaz H Al-Mallah, Moys\ue9s de Oliveira Filho, Mpiko Ntsekhe, Muhamed Saric, Mulei Chen, Myriam Brousseau, Myrthes Emy Takiuti, Nada Cemerlic-Adjic, Nadia Asif, Nadia Gakou, Nafisa Hussain, Nana O Katamadze, Nancy L Clapp, Nancy Aedy, Nandita Nataraj, Nanette K Wenger, Naomi Uchida, Nasrul Ismail, Natalia S Oliveira, Natalia de Carvalho Maffei, Natalie Spitzer, Natasha C Putnam, Naved Aslam, Neamat Mowafy, Neeraj Pandit, Neeraj Parakh, Nevena Garcevic, Ngaire Meadows, Nhi N Tran, Nicholas Danchin, Nicki Lakeman, Nicola Johnston, Nicolas W Shammas, Nicole Saint Vrestil, Nicole Deming, Nier Zhong, Niket Patel, Nikola N Boskovic, Nikolaos Karogiannis, Nikos Werner, Nina Johnston, Ning Zhang, Ning Zhou, Niree Hindoyan, Nirmal Kumar, Nitika Chadha, Nitish Naik, Nodira Aripova, Noloyiso Mtana, Nona A Eskelson, Noor Syamira Mokhtar, Noppon Taksaudom, Nor Asiah Basri, Nora Marchelletta, Norma Hogg, Nungshi Jungla, Nuno Ferreira, Oksana A Lubyanaya, Olga B Nikolaeva, Olga Ca\uf1avate, Olga Sobrino, Olga Walesiak, Olga Walter, Olga Zdo\u144czyk, Olivia J Lim, Olivia Anaya, Olivia Mancilla, Olivier Dubourg, Olugbenga Bello, Omar Almousalli, Omar Thompson, Oni Olurinde, Or Harel, Osama Raheem, Oscar M\ue9ndiz, 3scar Prada-Delgado, Oz Shapira, P Christian Schulze, Pachara Panpunuan, Pal Maurovich-Horvat, Pallav Garg, Paloma Moraga, Pam Singh, Pamela Julian, Pamela Ouyang, Pamela Sigel, Pamela Woodard, Panpan Zhou, Paola Emanuela Poggio, Paola Smanio, Paolo Calabro, Paramjit Jeetley, Pascal Goube, Patricia K Nguyen, Patricia Alarie, Patricia Arakelian, Patricia Arsenault, Patricia Blaise, Patricia Brito, Patricia Cowper, Patricia Endsley, Patricia Mieses, Patrick B Alexander, Patrick Donnelly, Patrick Wilmot, Patrycja Lebioda, Paul C Gordon, Paul Der Mesropian, Paul Galiwango, Paul Hauptman, Paul Kennedy, Paula Beardsley, Paula Garc\ueda-Gonz\ue1lez, Paulo Cury Rezende, Paulo Ricardo Caramori, Pavel S Kozlov, Pedro Canas Silva, Pedro Gabriel Melo Barros E Silva, Pedro P\uedccaro de Oliveira, Pedro Carvalho, Pedro Modas, Pedro Rio, Peeyush Jain, Peiyu He, Peter A McCullough, Peter H Stone, Peter M Pollak, Peter Douglass, Peter Henriksen, Peter OKane, Peter Ong, Philip Jones, Philip Rogal, Philippe G\ue9n\ue9reux, Philippe Menasche, Philippe Rheault, Phoebe Goold, Pierre Gervais, Pierre Michaud, Pilar Calvillo, Ping Chai, Piotr Jakubowski, Piotr Pruszczyk, Piotr Slomka, Piyamitr Sritara, Poay-Huan Loh, Poonam Sonawane, Pouneh Samadi, Pragnesh P Parikh, Prakash Deedwania, Pranav M Patel, Praneeth Polamuri, Pratiksha Sharma, Precilia Vasquez, Preeti Kamath, Prince Thomas, Priyadarshani Arambam, Puja K Mehta, Purvez Grant, Pushpa Naik, Qi Zhong, Qian Zhao, Qiang Zhou, Qianqian Yuan, Qin Yu, Qingxian Li, Qiulan Xie, Qiutang Zeng, R J Vindhya, R James Gerlach, Rachel King, Rada Vu\u10di\u107, Radmila Lyubarova, Radoslaw Pracon, Raewyn Fisher, Rafael Beyar, Rafael Diaz, Rafael Selgas, Raffaele Bugiardini, Raffaele Fanelli, Raisa Kavalakkat, V S Rajalekshmi, Rajat S Barua, Rajeev Menon, Rajesh Gopalan Nair, Rajesh Francis, Rajiv Narang, Rakesh Yadav, Ralph Alan Huston, T Ramakrishnan, Ramesh de Silva, Rami El Mahmoud, Ramiro Carvalho, Ramon de Jes\ufas-P\ue9rez, Ramona Stevens, Ran Leng, Ranjan Kachru, Ranjit Kumar Nath, Raquel Sanchez, Raven R Dwyer, Raven Lee, Ray Wyman, Raymond C Wong, Raymond W Little, Raymundo Ocaranza Sanchez, Rebecca J Wimmer, Rebecca Bariciano, Rebecca Otis, Rebekah R Herrmann, Reem Yunis, Reinette Hampson, Renato Abdala Karam, Renee C Hessian, Renee Kaneshiro, Reshma Ravindran, Reto Andreas Gamma, Reyna Bhandari, Reza Arsanjani, Ricardo L Lopes, Ricardo Mendes Oliveira, Ricardo Costa, Richa Bhatt, Richard F Davies, Richard H J Trimlett, Richard Goldweit, Rik Hermanides, Rine Nakanishi, Rinu R Sidh, Risha Patel, Rita Coram, Rizwan A Siddiqui, Rob S Beanlands, Robert J Hamburger, Robert K Riezebos, Robert M Donnino, Robert Bojar, Robert Chilton, Robert Guyton, Robert Henderson, Robert Kornberg, Robert Leber, Robert Mao, Robert Stenberg, Roberta P Santos, Roberto Ren\ue9 Favaloro, Roberto Amati, Rodolfo G S D Lima, Rodrigo J Cerci, Rogerio Tumelero, Rohit Tandon, Roma Tewari, Romalisa Miranda-Peats, Ron Wald, Ronald A Mastouri, Ronald G Morford, Ronald G Schwartz, Ronald P Pedalino, Rongrong Hu, Ronnell A Hansen, Ronny A Cohen, Rory Hachamovitch, Rosa Homem, Rosa Sandonato, Rosane Laimer, Rosann Gans, Roxanne Yost, Roy Mathew, Rub\ue9n Bale\uf3n-Espinosa, Ruben Ramos, Rubine Gevorgyan, Rui Ferreira, Rui Jing, Ruth P\ue9rez-Fern\ue1ndez, S K Dwivedi, S Ramakrishnan, Saadat Khan, Sabahat Bokhari, Sabu Thomas, Sadath Lubna, Sajeeda Parveen Khan, Sajeev Chakanalil Govindan, Saket Girotra, Saleem Kassam, Sallie Canada, Salvador Cruz-Flores, Samaa Mohamed, Samantha Ly, Sameh El Kaffas, Samia Massalha, Sampoornima Setty, Samuel Nwosu, Sandeep Seth, Sandeep Singh, Sander R Niehe, Sandra M Rivest, Sandra S Zier, Sandra Ahoud, Sandy Carr, Sanjay Ganapathi, Sanjay Shetty, Sanjeev Sharma, Santa Jimenez, Santhosh Satheesh, Santiago A Garcia, Sara Fernandez, Sara Karlsson, Sara Salkind, Sara Temiyasathit, Sarah Medina Rodriguez, Sarah Beaudry, Sarah Hadjih, Sarah Williams, Sarah Zahrani, Sarju Ralhan, Sasa Hinic, Sasko Kedev, Satinder Singh, Satoshi Yasuda, Satvic Cholenahally Manjunath, Sau Lee, Scott M Kaczkowski, Scott Kinlay, Sean W Hayes, Sebastian Sobczak, Senait Asier, Sergey A Sayganov, Seth I Sokol, Shaheen Pandie, Shaiful Azmi Yahaya, Shamir Mehta, Shao-Ping Nie, Sharad Chandra, Sharder Islam, Sharon Tai, Sheetal Rupesh Karwa, Sheri Ussery, Sheromani Bajaj, Sherron C Crook, Shigeyuki Nishimura, Shintaro Nakano, Shirin Heydari, Shiv Kumar Choudhary, Shivali Patel, Shobana Ganesan, Shruti Pandey, Shuyang Zhang, Shweta Hande, Siddharth Gadage, Sik-Yin V Tan, Silvia Zottis Poletti, Silvia Riera, Silvia Valbuena, Simon Walsh, Simona Maspoli, Simone Savaris, Si-Ting Feng, So Yang Cho, Solomon Yakubov, Songlin Zhu, Songtao Wang, Sonia Guerrero, Sonika Gupta, Sonja Salinger Martinovic, Sonya Brons, Sorin Brener, Sothinathan Gurunathan, Souheil Saba, Soundarya Nayak, Sowjanya Reddy, Srinivasa Potluri, Sriram Sudarshan, Srun Kuanprasert, Stacie Van Oosterhout, Stamatios Lerakis, Stanley E Cobos, Stefan C Bertog, Stefan M Simovi\u107, Stefan Weikl, Stefano Di Marco, Stefano Provasoli, Stephanie A Tirado, Stephanie C Boer, Stephanie M Lane, Stephanie Ferket, Stephanie Kelly, Stephanie Wasmiller, Stephen H McKellar, Stephen P Hoole, Stephen Fremes, Stephen Preston, Steve Leung, Steven A Fein, Steven J Lindsay, Steven P Sedlis, Steven Giovannone, Steven Michael, Steven Weitz, Stijn van Vugt, Subhash Banerjee, Sudhir Naik, Suellen Hosino, Sukie Desire, Sukit Yamwong, Suku T Thambar, Sulagna Mookherjee, Suman Singh, Sundeep Mishra, Sunil Kumar Verma, Supap Kulthawong, Supatchara Khwakhong, Surendra Naik, Suresh Babu, Surin Woragidpoonpol, Suryaprakash Narayanappa, Susan Derbyshire, Susan Gent, Susan Mathus, Susan Milbrandt, Susan Moore, Susan Regan, Susan Stinson, Susan Webber, Susana Silva, Susanna Stevens, Susanne Gruensfelder, Suthara Aramcharoen, Suvarna Kolhe, Suzana Tavares, Suzanne Arnold, Suzanne Welsh, Svetlana Apostolovic, Swapna Kunhunny, Ta-Chuan Hung, Taissa Zappernick, Tali Sharir, Talita Silva, Tamara Colai\ue1covo Soares, Tapan Umesh Pillay, Tarun K Mittal, Tatiana Trifonova, Tauane Bello Duarte, Tauqir Huk, T\ue9odora Dutoiu, Terrance Chua, Terry Weyand, Thabitha Charles, Theodoros Kofidis, Theresa McCreary, Thierry Lefevre, Thippeekaa Arumairajah, Thitipong Tepsuwan, Thomas J Mulhearn, Thomas M Meyer, Thomas P Rocco, Thomas R Downes, Thomas Crain, Thomas Haldis, Thomas Mathew, Thomas Redick, Thounaojam Indira Devi, Thuraia Nageh, Tia Cauthren, Tiago Silva, Tiffany Little, Tijana Andric, Tina Harding, Titus Lau, Tiziana Formisano, Tiziano Moccetti, Tomasz Ciurus, Tomasz Mazurek, Tomasz Tarchalski, Toshiyuki Nagai, Tri Tran, Tricia Youn, Trish Tucker, Trudie Milner, Tuhina Bose, Tushar Kotecha, Udo Sechtem, Uma S Valeti, Umberto Cucchini, Umesh Badami, Upendra Kaul, V K Bahl, V S Narain, Valentina Casali, Valeria Godoy, Valerie Robesyn, Vamshi P Priya, Vandana Yadav, Vera McKinney, Veronica De Lenges, Veronica Tinnirello, Vicente Miro, Victor Navarro, Victoria Gumerova, Victoria Hernandez, Vidya Seeratan, Vijay Kumar, Vikentiy Y Kozulin, Viktoria Bulkley, Vilmar Veiga Jr, Vincent Setang, C P Vineeth, Virginai Pubull Nu\uf1ez, Virginia Fern\ue1ndez-Figares, Vitor Gomes, Viviana Gabriel, Viviane Dos Santos, Viviane Almeida, Vlad A Iliescu, Vladan Mudrenovic, Vladimir Dzavik, Vojislav L Giga, Walter Enrique Mogrovejo, Wan Xian Chan, Wanda C Marfori, Wanda Parker, Warangkana Mekara, Wassim Nona, Wayne Old, Wayne Pennachi, Weerachai Nawarawong, Wei Chen, Wei Su, Weibing Xing, Wei-Ren Lan, Wenda Crawford, Wendy L Stewart, Wendy Drewes, Wenhua Lin, William B Abernethy, William D Salerno, William F Fearon, William Vergoni, William Weintraub, Winnie C Sia, Wlodzimierz J Musial, Xacobe Flores-R\uedos, Xavier Garcia-Moll Marimon, Xi Su, Xiang Ma, Xiangqiong Gu, Xiao Wang, Xiaomei Li, Xiaowei Yao, Xin Fu, Xin Su, Xin Zeng, Xinchun Yang, Xiuhong Li, Xuehua Fang, Xutong Wang, Yaming Geng, Yan Yan, Yanek P\ue9pin-Dubois, Yanfu Wang, Yang Wang, Yanmeng Tian, Yaping Huang, Yechen Han, Yesenia Zambrano, Yi-Hsuan Yang, Ying Tung Sia, Yining Yang, Yitong Ma, Yolayfi Peralta, Yongjian Wu, Yu Kunwu, Yu Zhao, Yudong Peng, Yueh-Hung Lin, Yulan Zhao, Yumei Dong, Yunhai Zhao, Yutthaphan Wannasopha, Yvonne Taul, Zakir Sahul, Zalina Kudzoeva, Zbigniew Kalarus, Zeljko Z Markovic, Zhen Huang, Zheng Ji, Zhenyu Liu, Zhou Yue, Zhulin Zhang, Zhuxi Li, Zile Singh Meharwal, Ziliang Bai, Zixiang Yu, Zohra Huda, Zoltan Davidovits
- Jones P.G.
- Mark D.B
- Maron D.J.
- Mavromatis K.
- Mavromichalis S.
- Newman J.D.
- O'Brien S.M.
- Reynolds H.R.
- Rosenberg Y.
- Spertus J.A.
- Stone G.W.
- Weintraub W.S.
- Publication venue
- 'Massachusetts Medical Society'
- Publication date
- 01/01/2020
- Field of study
BACKGROUND In the ISCHEMIA trial, an invasive strategy with angiographic assessment and revascularization did not reduce clinical events among patients with stable ischemic heart disease and moderate or severe ischemia. A secondary objective of the trial was to assess angina-related health status among these patients. METHODS We assessed angina-related symptoms, function, and quality of life with the Seattle Angina Questionnaire (SAQ) at randomization, at months 1.5, 3, and 6, and every 6 months thereafter in participants who had been randomly assigned to an invasive treatment strategy (2295 participants) or a conservative strategy (2322). Mixed-effects cumulative probability models within a Bayesian framework were used to estimate differences between the treatment groups. The primary outcome of this health-status analysis was the SAQ summary score (scores range from 0 to 100, with higher scores indicating better health status). All analyses were performed in the overall population and according to baseline angina frequency. RESULTS At baseline, 35% of patients reported having no angina in the previous month. SAQ summary scores increased in both treatment groups, with increases at 3, 12, and 36 months that were 4.1 points (95% credible interval, 3.2 to 5.0), 4.2 points (95% credible interval, 3.3 to 5.1), and 2.9 points (95% credible interval, 2.2 to 3.7) higher with the invasive strategy than with the conservative strategy. Differences were larger among participants who had more frequent angina at baseline (8.5 vs. 0.1 points at 3 months and 5.3 vs. 1.2 points at 36 months among participants with daily or weekly angina as compared with no angina). CONCLUSIONS In the overall trial population with moderate or severe ischemia, which included 35% of participants without angina at baseline, patients randomly assigned to the invasive strategy had greater improvement in angina-related health status than those assigned to the conservative strategy. The modest mean differences favoring the invasive strategy in the overall group reflected minimal differences among asymptomatic patients and larger differences among patients who had had angina at baseline