16 research outputs found
Validation of the Body Concealment Scale for Scleroderma (BCSS): Replication in the Scleroderma Patient-centered Intervention Network (SPIN) Cohort
- Author
- Alena Ikic
- Alessandra Bruns
- Alexandra Albert
- Alexandra Portales
- Angela Costa Maia
- Ann Impens
- Ann Tyrell Kennedy
- Anna Gill
- Anne A. Schouffoer
- Annett Körner
- Ariane L. Herrick
- Ariel Masetto
- Artur Jose de B. Fernandes
- Benjamin Korman
- Benrud-Larson
- Bentler
- Bessell
- Boin
- Brett D. Thombs
- Brooke Levis
- Carleton
- Carlo Marra
- Carolyn Ells
- Carter Thorne
- Catarina Leite
- Catherine Fortune
- Catherine Fortune
- Christopher Denton
- Claire Fedoruk
- Clarke
- Cohen
- Cook
- Cornelia van den Ende
- Dan Furst
- Daphna Harel
- David Robinson
- Diana Harcourt
- Dinesh Khanna
- Dominique Godard
- Doug Smith
- Durhane Wong-Rieger
- Elena Schiopu
- Evelyn Sutton
- Frank van den Hoogen
- Fredrick Wigley
- Genevieve Gyger
- Ghassan El-Baalbaki
- Gilles Boire
- Guylaine Arsenault
- Hinchcliff
- Hommel
- Hu
- Isabelle Boutron
- James V. Dunne
- Janet L. Poole
- Janet Pope
- Jennifer Persmann
- Jessica Gordon
- Jewett
- Jewett
- Jewett
- Joanne Manning
- Joep Welling
- John Varga
- Karen Gottesman
- Karen Nielsen
- Kim Fligelstone
- Kwakkenbos
- Linda Kwakkenbos
- Lisa R. Jewett
- Lorinda Chung
- Luc Mouthon
- Lyne Bissonnette
- Maggie Larche
- Maria E. Suarez-Almazor
- Marie Hudson
- Marie-Eve Carrier
- Maureen D. Mayes
- Maureen Sauve
- Mayes
- Mayes
- Mia R. Pepin
- Mokkink
- Monique Hinchcliff
- Murray Baron
- Muthén
- Nader Khalidi
- Newell
- Niall Jones
- Nichola Rumsey
- Patricia Carreira
- Patrick Liang
- Paul Fortin
- Pearce Wilcox
- Peters
- Pierre Dagenais
- Reise
- Reise
- Reise
- Rina S. Fox
- Robert Riggs
- Robert Spiera
- Robyn Domsic
- Rumsey
- Rumsey
- Russell J. Steele
- Sarah D. Mills
- Serge Poiraudeau
- Shadi Gholizadeh
- Shervin Assassi
- Sindhu R. Johnson
- Sophie Roux
- Steiger
- Susan J. Bartlett
- Suzanne Kafaja
- Tatiana Sofia Rodriguez Reyna
- Thompson
- Thompson
- Tiggemann
- Tracy Frech
- Tucker
- van den Hoogen
- van Lankveld
- Vanessa C. Delisle
- Vanessa L. Malcarne
- Virginia Steen
- Warren R. Nielson
- Yeona Jang
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2017
- Field of study
© 2016 Elsevier Ltd Body concealment is an important component of appearance distress for individuals with disfiguring conditions, including scleroderma. The objective was to replicate the validation study of the Body Concealment Scale for Scleroderma (BCSS) among 897 scleroderma patients. The factor structure of the BCSS was evaluated using confirmatory factor analysis and the Multiple-Indicator Multiple-Cause model examined differential item functioning of SWAP items for sex and age. Internal consistency reliability was assessed via Cronbach's alpha. Construct validity was assessed by comparing the BCSS with a measure of body image distress and measures of mental health and pain intensity. Results replicated the original validation study, where a bifactor model provided the best fit. The BCSS demonstrated strong internal consistency reliability and construct validity. Findings further support the BCSS as a valid measure of body concealment in scleroderma and provide new evidence that scores can be compared and combined across sexes and ages
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
- NellÄker 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 VĂ©ronique
- 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 VĂ©ronique 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.
- BrĂŒls 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 NĂșrua
- Footman Simon
- Forbes Lisa D.
- Ford Amanda F.
- Foster Myre J.
- Fotopulos Dea
- Fourcade Matthew
- Fowler John
- Fox Jessica
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- Francis Matthew
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- Frankel Ken
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- 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
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- Gil Isaias
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- Gillet Will
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- Gilna Paul
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- 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
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- Hagopian Daniel
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- Hajek Patrick
- Hall Brett Lynn
- Hall Brittany
- Hall Jennifer
- Hall Rebekah
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- Halls Karen
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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
- Harris Anthony
- Harrison Charlene-Lou
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- Hasegawa Tomoko
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- 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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- Haydu Lauren
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- Heinze Ivonne
- Heitmann Katja
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- Hepa Victor
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- Hernandez Omar
- Herseim Allyson
- 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
- Holdgate Janet
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- Holloway Ele
- Holmes Andrea
- Holmes Ian
- Holmes Sarah
- Holroyd Simon
- Holtz Ann
- Holtzer Caleb
- Homsi Deana K.
- Homsi Farah J.
- Honan Tracy
- Hood Leroy
- Hooper Alison
- Hopewell Lucy
- Hopkins Ben
- Horne Jennifer
- Hornett Gary
- Hornischer Klaus
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- Hornsby Geoff
- Hornsby Tony
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- Hosage-Norman Catherine
- Hosoda Kei
- Hosono Katsuhiro
- Hosseini Roya
- Hou Shunfang
- Hou Xiaodi
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- Howard Philip
- Howard Stephanie R.
- Howden Philip
- Howe Kevin
- Howell Gareth
- Howell Latoya Lynette
- Howells Sally Lucinda
- Hsu Fan
- Hu George
- Hu Jie
- Hu Songnian
- Huang Fang
- Huang Guyang
- Huang Katherine
- Huang Mei
- Huang Wayne
- Huang Wei
- Huang Wei
- Huang Wei
- Huang Zhengping
- Hubbard Timothy
- Huber James W.
- Huckle Elizabeth
- Hue Heather
- Hughes Jaime
- Hughes Jennifer
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- Hunt Michael
- Hunt Paul
- Hunt Sarah
- Hunter Giselle
- Hunter Rov, II
- 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
- Israni Sanjay
- Ito Fumiaki
- Ito Noriko
- Itoh Takehiko
- Iwakawa Shinobu
- Iwatate Mariko
- Iwatsu Mikiko
- Iyer Vivek
- 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
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- Jimenez Alberto
- Jin Jian
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- Jones Micheil
- Jones Myrna D.
- Jones Steven
- Jong Pieter De
- Jordan Yun
- Joseph Shirin
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- Joyce Gillian
- Jubb Mark
- Jung Eugine
- JĂ€rke Doris
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- Kagan Ryan
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- Kaida Kaoru
- Kale Pat
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- Kamal Michael
- Kamat Asha
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- Karunaratne Kanchi
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- Kato Takako
- Kauer Gerhard
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- 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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- 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
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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
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- Lehman Karl
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- Lei Meng
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- Levan Jaclyn M.
- Leversha Margaret
- Levine Rosie
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- Lewis Doreen
- Lewis Ernest K.
- Lewis Keith
- Lewis Lakeshia C.
- Lewis Lora R.
- Lewis Tammy
- Leyba Tina
- Li Changfeng
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- Lieuallen Kim
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- Lim Meng K.
- Lindblad-Toh Kerstin
- Lindo Ken
- Lindquist K.
- Lindsay Sarah
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- LIne Matthew
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- Liu Yu
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- Longmire Johnathan L.
- Lopez Frederick
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- 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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- Lynch Daniel
- Löhnert Tschong-Hun
- Ma Cheng
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- Mabbitt Richard
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- Machrus Migdad
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- Macken Catherine A.
- MacLean Christine
- Madabhushi Ramki
- Madu Renita C.
- Maeda Hideto
- Maglott Donna
- Maheshwari Manjula
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- Mahmoodi Venus
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- Mailey Brian
- Major John
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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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- Maslen Gareth
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- Masood Hadi
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- Matsushita Yoshitaka
- Matthews Charles D.
- Matthews Lucy
- Matthews Nick
- Matthews Paul
- Matthews Sterling D.
- Mauceli Evan
- Maunes Cynthia
- Maupin Rachel
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- Maynard Madalynne
- McCann Owen
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- McLean James
- McLellan Michael D.
- McLeod Michael P.
- McMurdo John
- McMurray Amanda
- McMurray Des
- McMurray Kimberly
- McMurray Kimberly L.
- McNinch Jenny
- McPherson John
- McPherson John D.
- McVicker Graham
- McWilliams Natalie
- Mead Kelly
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- Medina Catherine
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- Meidi Patrick
- Meier Elke
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- Mejima Mio
- Meldrim James
- Melsopp Craig
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- Meneus Louis
- Meng Shanshan
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- Mercado Christian
- Mercado George
- Mercado Iracema C.
- Mercer Simon
- Merritt Christina E.
- Mesirov Jill P.
- Metzker Michael Lee
- Meyer Rekha
- Meyer Rick
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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.
- Miller Christie
- Miller Donald
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- Milne Sarah
- Miner George R.
- Miner Sheri
- Miner Tracie
- Minja Emmanuel
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- Minx Patrick J.
- Misra Monica
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- Mullenger Ian
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- Mulrain Leon
- Munday Brian
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- Mundt Mark O.
- Mungall Andy
- Munidasa Mala
- Munk A. Christine
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- Munson Glen
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- Murayama Yuji
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- Murphy Michael
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- Nagamine Kentaro
- Nagao Syunsuke
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- Nair Latha
- Nair Seema R.
- Naka Maho
- Nakagawa Masayo
- Nakagawa Saori
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- Nankervis Colin E.
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- Nazareth Lynne V.
- Neal Dearl D.
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- Nelson Catherine
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- Nelson Deborah A.
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- Newes Christian
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- Nguyen Natalie M.
- Nguyen Ngoc Bich
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- Ning Zemin
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- 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
- Ohta Nao
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- Okoawo Ose
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- Olson Maynard V.
- Omotosho Bamidele
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- Oomori Nobuhiro
- Ooshima Kenshiro
- Oragunye Njideka
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- Osman Sahal
- Ovcharenko Ivan
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- Oviedo Rodolfo J.
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- Ozawa Ritsuko
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- Pace Araceli C.
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- Pahlavan Shane
- Palaniappan Krishnaveni
- Palazzolo Michael
- Palmeiri Anthony
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- Panasenko Vladimir
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- Parker David Neil
- Parker Stephen
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- Parks Kenya L.
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- Parson-Quintana Beverly
- Pasternak Shiran
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- Patel Vishal V.
- Patrick James
- Paul Heidie A.
- Paul Shelia
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- Payton Brett A.
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- Peng Yi
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- Percy Chantel
- Perez Agapito
- Perez Lesette M.
- Perito Andrew
- Perrault Isabelle
- Perrier Rene
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- Pesavento Brad
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- Peters Leonard G.
- Peterson Jane
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- Pettett Roger
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- Pollard Martin
- Polman Jos
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- Prathalingham Radhika
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- Rachlin Eric K.
- Rachupka Anthony
- Radionenko Maxim
- Rajagopal Mohan
- Ramasami Umadevi
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- Wangdi Tsering
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- Wickremasinghe Manosha I.
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- Wilkinson Jane
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- Williams Andy
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- Williamson Helen
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- Wong Benjamin
- Wong Gane K-S
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- Wood Emma
- Wood Joe
- Wooden Hailey S.
- Wooden Steven H.
- Woodeson Sharon
- Woodfine Kathryn
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- Woods Eric
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- Worley Kim Carlyle
- Woyke Tanja
- Wray Matthew
- Wray Paul
- Wright Charmain
- Wright Debbie
- Wright Kathrine
- Wright Kristin
- Wright Rita A.
- Wu Chungen
- Wu Dongying
- Wu Jiaqian
- Wu Jung-Rung
- Wu Kevin
- Wu Qingfa
- Wu Qingfa
- Wu Ruiming
- Wu Xiao
- Wu Xiaojing
- Wu Zaining
- Wyatt Julia
- Wycoff-Montenegro Melissa
- Wylie Kris
- Wyman Dudley
- Wyman Stacia
- Xi Yan
- Xi Yingying
- Xie Fei
- Xie Gary
- Xie Jane
- Xiong Hui
- Xiong Yuqing
- Xu Alex
- Xu Jing
- Xu Jing
- Xu Ruqin
- Xu Shuhua
- Xu Wei
- Xu Xinlai
- Xu Yan
- Xu Yuning
- Xu Zhihong
- Xu Zuyuan
- Xuan Yali
- Xuan Zhenyu
- Xue Rui
- Yada Tetsushi
- Yadav Shailendra
- Yakub Syed
- Yamamoto Lynn
- Yamamoto Noriko
- Yamamoto Yuko
- Yamashita Yasue
- Yamazaki Satoru
- Yang Hao
- Yang Huanming
- Yang Huanming
- Yang Joan
- Yang Shiaw-Pyng
- Yang Shudong
- Yang Xiaonan
- Yang Xiaonan
- Yang Xiaoping
- Yang Yongkui
- Yano Candance
- Yao Zhijian
- Yao Zhijian
- Yaspo Marie-Laure
- Ye Chen
- Yeager Shane
- Yeh Mimi
- Yen Jennifer
- Yeshitela Rahel Retta
- Yoakum Martin
- Yokobata Kathy
- Yokoyama Jennifer
- Yonezawa Miho
- Yoon Lillienne
- Yoon Vivienne
- Yoshida Satoru
- You Bo
- Young Geneva
- Young Louise
- Young Shelia
- Younger Ruth
- Yu Bing
- Yu Charles
- Yu Fuli
- Yu Jun
- Yu Jun
- Yu Jun
- Yuan Kaiwen
- Yuan Ye
- Yuan Yida
- Yue Shujie
- Yumae Brian
- Yun Rui
- Zainoun Joanne
- Zembeck Lisa
- Zeng Yixin
- Zhai Dong
- Zhan Guoping
- Zhang Bo
- Zhang Caimin
- Zhang Fengmei
- Zhang Guangyu
- Zhang Guohua
- Zhang Guohua
- Zhang Haiqing
- Zhang Haiqing
- Zhang Haiqing
- Zhang Hongbo
- Zhang Hongbo
- Zhang Jingjing
- Zhang Jingjing
- Zhang Jingkun
- Zhang Jiuchun
- Zhang Jiuchun
- Zhang Lanzhi
- Zhang Li
- Zhang Li
- Zhang Meihua
- Zhang Meng
- Zhang Ming
- Zhang Qing
- Zhang Ruhua
- Zhang Shaojie
- Zhang Tiezhen
- Zhang Wei
- Zhang Wei
- Zhang Xianglin
- Zhang Xianglin
- Zhang Xiaoliang
- 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 âŒ99% of the euchromatic genome and is accurate to an error rate of âŒ1 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
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
- CurrĂČ 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 ChristĂšle
- Duncan Alexis
- DâAlessandro Mariella
- Eason Jacqueline
- Eiset Saga Elise
- Ellard Sian
- Ellis Ian
- Elmslie Frances
- Escobar Luis
- Evans Karenza
- Everest Sarah
- Faundes VĂctor
- 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
- HĂ©ron 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
- NellÄker Chris
- Nemeth Andrea
- Nevitt Louise
- Newbury-Ecob Ruth
- Norman Andrew
- Ogilvie Caroline
- Ong Kai-Ren
- OâDonnell-Luria Anne
- OâShea 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
- RieĂ 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
Swept Under the Rug? A Historiography of Gender and Black Colleges
- Author
- Alexander William T
- Allen-Castellitto Anita
- Anderson Eric
- Anderson K
- Anderson Margaret L
- Aptheker Bettina
- Avery Vida
- Baham Eva
- Barry Keith
- Beamon Harry
- bell hooks
- bell hooks
- bell hooks
- Bell-Scott Patricia
- Bell-Scott Patricia
- Bell-Scott Patricia
- Bethel Leonard
- Blackwell Barbara
- Bond Horace Mann
- Bond Jean Carey
- Bowles Frank
- Bracey John
- Brazzell Johnetta Cross
- Brown Linda Beatrice
- Brown M Christopher
- Browning Jane E Smith
- Butchart Ronald E
- Cade Toni
- Campbell Clarice
- Carroll Constance
- Cash Gail
- Chancer Lynn
- Chapel Cynthia
- Chivers Walter
- Clary George
- Cole Johnnetta Betsch
- Collier-Thomas Bettye
- Collier-Thomas Bettye
- Collins Alicia C
- Collins Alicia C
- Collins Patricia Hill
- Collins Patricia Hill
- Collins Patricia Hill
- Collins Patricia Hill
- Comminey Shawn
- Crawford Vicki
- Cuthbert Marian
- Davis Angela Y
- Davis Lenwood
- Davis Leroy
- Dill Bonnie Thorton
- Drewry Henry
- Du Bois WEB
- Dyson Walter
- Edwards Ishmell
- Engs Robert
- Evans Stephanie Y
- Evans Stephanie Y
- Evans-Herring Cassandra
- Fancher Evelyn
- Favors Jelani
- Foster Terry
- Fox-Genovese Elizabeth
- Francis Valera T
- Frazier E Franklin
- Freeman Kassie
- Gallot Mildred
- Garrett R Thomas
- Gasman Marybeth
- Gasman Marybeth
- Gasman Marybeth
- Gasman Marybeth
- Gasman Marybeth
- Gibson De Lois
- Giddings Paula
- Giddings Paula
- Gilkes Cheryl Townsend
- Gilpin Patrick J
- Glenn Evelyn Nakano
- Graham Frances D
- Graham Frances D
- Gurin Patricia
- Guy-Sheftal Beverly
- Guy-Sheftal Beverly
- Hansen Joyce A
- Hansen Joyce A
- Harley Sharon
- Harper Shaun R
- Hill ST
- Hine Darlene Clark
- Hine Darlene Clark
- Hine Darlene Clark
- Hine Darlene Clark
- Hine Darlene Clark
- Hine Darlene Clark
- Holmes Dwight OW
- Hunter Wilma
- Hutcheson Philo A
- Ihle Elizabeth L
- Irving John
- Isaacs Barbara
- Jabs Albert
- Jackson Gretchen
- Jaffe Abram J
- James Joy
- Jenkins Clara
- Johnson Alandus
- Johnson Karen Ann
- Jones Charisse
- Kates Susan
- Keller FR
- Kittrell Flemmie
- Klein Arthur L
- Kobena Korang-Arthur
- Lefhever Harry G
- Lemert C
- Leone Janice
- Liberti Rita
- Liberti Rita
- Liberti Rita
- Linsin C
- Lockwood Nadine
- Logan Rayford
- Marybeth Gasman
- Matthews Lamoyne
- McCluskey Audrey T
- McCluskey Audrey T
- McCluskey Audrey T
- McCluskey Audrey T
- McCluskey Audrey T
- McGinnis Frederick
- McGrath Earl J
- McJamerson Jimmy
- McKinney Theophilus
- McKinny Richard I
- McMillian Joseph
- Morton Patricia
- Moses Yolanda
- Moynihan Daniel Patrick
- Muse Clifford
- Myers Lena Wright
- National Association of College Women
- Nidiffer Jana
- Noble Jeanne L
- OâBrien G
- Palmieri Patricia
- Parker Marjorie
- Parsons M
- Perkins Linda M
- Perkins Linda M
- Perkins Linda M
- Perkins Linda M
- Player Willa
- Poole H Randall
- Ramsey Berkley
- Read Florence
- Read Florence
- Richardson Frederick
- Roane Florence
- Robinson William
- Romelle Charlestine
- Rosenblum Karen
- Rothman Norman
- Rovaris Dereck
- Sanders Katrina
- Seymour Elaine
- Slowe Lucy Diggs
- Smith Valerie
- Solomon Barbara
- Spencer Chonita Robinson
- Sterling Dorothy
- Stringer Patricia S
- Sutton Virginia Ann
- Taliaferro Cecil
- Thompson Daniel C
- Thompson Kathleen
- Thurgood Marshall Fund
- Thurman Frances
- Vanlandingham Karen
- Venkatesan Madhavi
- Wadelington Charles Weldon
- Wallace Michelle
- Warren-Christian Christiane
- Washington Elsie
- Watkins William
- Watson Yolanda
- Watson-Moore Yolanda
- Williams Juan
- Williams Zachery
- Willie Charles
- Willie Charles V
- Wimbish Jerrold
- Wolters Raymond
- Woodson Carter G
- Woodson Carter G
- Woody Thomas
- Wright Earl
- Yellin Jean Fagan
- Young Jacqueline
- Publication venue
- 'American Educational Research Association (AERA)'
- Publication date
- Field of study
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 InĂȘs
- 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
- GrÀf 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
- NellÄker 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)
Deserving victimhood: kinship, emotions and morality in contemporary politics
- Author
- ABDO FEREZ MarĂa Cecilia
- ALEXANDER Jeffrey
- ANDERSON Benedict
- ARENES Carolina
- BERMUDEZ Natalia
- BOURDIEU Pierre
- BOURDIEU Pierre
- BUBLIK Marcela
- CALVEIRO Pilar
- CAPPIELLO HernĂĄn
- CATELA Ludmila da Silva
- CRENZEL Emilio
- CRENZEL Emilio
- DAS Veena
- DURKHEIM Emile
- FASSIN Diddier
- FERRARI Marcela
- FILC Judith
- FOLCO Javier
- FONSECA Claudia
- GATTI Gabriel
- GRINZBERG Victoria
- HIRSCHMAN Albert
- JENKINS Janis
- LASZCZKOWSKI Mateus
- LENOIR RĂ©mi
- LUDUEĂA MarĂa Eugenia
- MELLIBOVSKY Matilde
- REGUEIRO Sabina
- RORTY Richard
- SARTI Cynthia
- SEOANE MarĂa
- STOLER Ann Laura
- SUTTON Barbara
- TAITĂN Diego
- TEITEL Ruti
- VECCHIOLI Virginia
- VECCHIOLI Virginia
- VIANNA A.
- Publication venue
- 'FapUNIFESP (SciELO)'
- Publication date
- Field of study
Public COAPI Toolkit of Open Access Policy Resources
- Author
- Aaron McCullough
- Aaron Retteen
- Ada Emmett
- Adrian Ho
- Alainna Therese Wrigley
- Alan Boyd
- Alison Moore
- Alison Scott
- Amanda Makula
- Amanda Page
- Amy Coughenour
- Amy Nurnberger
- Anali Maughan Perry
- Andrea Wirth
- Andrew Johnson
- Andrew Weiss
- Andrew Wesolek
- Andrée J. Rathemacher
- Angela Riggio
- Ann Campion Riley
- Ann Devenish
- Ann Wolpert
- anna craft
- Anne Gilliland
- Anne Houston
- Anne Langley
- Anneliese Taylor
- Arthur Boston
- Barbara DeFelice
- Barbara Fister
- Benjamin Panciera
- Beth Bernhardt
- Beth Tillinghast
- Bethany Nash
- brandy karl
- Brian Kern
- Bryn Geffert
- Camilla MacKay
- Carla Myers
- Carmelita Pickett
- Carol Hoover
- Carolyn Mills
- Carolyn Moritz
- Carrie A L Nelson
- Carrie Levinson
- Catherine Dwyer
- Catherine Mitchell
- Cathy Sarli
- Cheryl Truesdell
- Chloe Georas
- Chris Landry
- Christopher Hollister
- Colin B Lukens
- Colleen Lyon
- Craig Finlay
- Csaba Nikolenyi
- Dan Heuer
- Darcee Olson
- Darren Chase
- David Dunham
- David Lewis
- David Lowe
- Deborah Jakubs
- Deborah Ludwig
- Dee Magnoni
- Devin Soper
- Diane (DeDe) Dawson
- Diane Geraci
- Diane Graves
- Donald Simpson
- Donna Ferullo
- Dylan Burns
- Elizabeth Brown
- Elizabeth Smart
- Ellen Dubinsky
- Ellen Finnie
- Ellen M Phillips
- Emily Ferrier
- Emily Kilcer
- Erica Pye
- Erin Gallagher
- Erin Jerome
- Eva Cunningham
- Farley Laine
- Fred Rascoe
- Gail McMillan
- Geneva Henry
- Geoffrey Little
- George Porter
- Gerald Beasley
- Gordon J Aamot
- Graham Henderson
- Gregory Heald
- Guylaine Beaudry
- Haley Walton
- Heather Joseph
- Helen Reed
- Ivy Anderson
- James F. Williams
- James L. Mullins
- Jane Costanza
- Jane Otto
- Jason Byrd
- Jean McKenzie
- Jeff Belliston
- Jen Green
- Jen Waller
- Jenifer Bartle
- Jennifer Bazeley
- Jennifer Phillips
- Jennifer Raye
- Jennifer Raye Coronado
- Jennifer Solomon
- Jere Odell
- Jim Bothmer
- JoAnne Newyear-Ramirez
- Jody Bailey
- John Culshaw
- John Martin
- John Novak
- John Weaver
- John Willinsky
- Jonathan Miller
- Jordan Andrade
- Joseph McArthur
- Josh Bolick
- JQ Johnson
- Judith Russell
- Judy Anderson
- Judy Wieber
- Julia Lovett
- K. Max Zhang
- Karen Bjork
- Karen Butter
- Katherine Purple
- Kathleen McQuiston
- Kathryn Pope
- Katie Coffman
- Katie Fortney
- Katie Pierce Farrier
- Kelly Visnak
- Kevin L. Smith
- Kimberly Chapman
- Kimberly Douglas
- Lana Wood
- Laura Bowering Mullen
- Laura Quilter
- Lauren Washuk
- Linda Friend
- Lindsay Van Berkom
- Lisa Macklin
- Lisa Schiff
- Lisa Spiro
- Lorraine Harricombe
- Mahrya Burnett
- Marc Greenburg
- Marcy Wilhelm-South
- Margaret Phillips
- Marianne Reed
- Marilyn Billings
- Mark Christel
- Mark Glen Bilby
- Mark McCallon
- Mark Newton
- mark robertson
- Mark Stover
- Marlee Givens
- Martha Stuit
- Martin Halbert
- Mary Beth Thompson
- Mary Marlino
- Matt Covey
- Maude Laplante-Dube
- Megan Wacha
- Mel DeSart
- Melanie Kowalski
- Melissa H Seelye
- Micah Vandegrift
- Micah Zeller
- Michael Boock
- Michaela Willi Hooper
- Michelle Flinchbaugh
- Mike Roy
- Mila Pollack
- Molly Wilkerson Keener
- Mona Ramonetti
- Nancy Stimson
- Nazareth Pantaloni
- Neil McElroy
- Nick Shockey
- Paige C. Morgan
- Paolo Mangiafico
- Patsy Carruthers
- Patty Gallilee
- Paul Schoening
- Perry Collins
- Peter Suber
- Philip Young
- Rachel Walton
- Rachelle Ramer
- Rafia Mirza
- Ray English
- Rebecca Cremona
- Rebecca Reznik-Zellen
- Rebecca Smith
- Rebel Cummings-Sauls
- Rhonda Neugebauer
- Rick Clement
- Rick Provine
- Robin Sinn
- Rory McGreal
- Rupp Serrano Karen J.
- Ruth Lewis
- Sarah Wipperman
- Scott Hanrath
- Sean Barker
- Sebastian Faber
- Shan Sutton
- Shannon Kipphut-Smith
- Shannon Stark
- Sharon E. Farb
- Shawn Daugherty
- Sherri Barnes
- Simone Sacchi
- Stephanie Gomes
- Stephen Flynn
- Stuart Shieber
- Sue Kriegsman
- Susan Drisko Zago
- Susan Mikkelsen
- Terry Birdwhistell
- Timothy D. Jewell
- Town Peterson
- Violeta Ilik
- Virginia Barbour
- Yuan Li
- Publication venue
- OSF
- Publication date
- 25/01/2024
- Field of study
The Coalition of Open Access Policy Institutions (COAPI, https://sparcopen.org/coapi ) is committed to sharing information and resources to assist in the development and implementation of institutional Open Access (OA) policies. The COAPI Toolkit includes a diverse collection of resources that COAPI members have developed in the course of their OA policy initiatives. These resources are openly accessible and published here under Creative Commons Attribution 4.0 licenses, unless otherwise noted on the resources themselves
Establishing core outcome domains in pediatric kidney disease: report of the Standardized Outcomes in NephrologyâChildren and Adolescents (SONG-KIDS) consensus workshops
- Author
- Alexander Stephen
- Alexander Stephen I.
- Anh Yo Han
- Anochie Ifeoma
- Anumudu Samaya
- Atkinson Meredith
- Au Eric
- Au Eric H.
- Azukaitis Karolis
- Bacchetta Justine
- Bagga Arvind
- Baldacchino Sarah
- Balovlenkov Elena
- Barry Lucinda
- Baum Michel
- Baumgart Amanda
- Bell Lorraine
- Benador Nadine
- Benavides Manuel
- Benavides Raymond
- Bernier-Jean Amelie
- Bockenhauer Detlef
- Bonilla-Felix Melvin
- Brockett Carter
- Brockett Jeff
- Brockett Melissa
- Brophy Patrick
- Bscardark Brittney
- Carlton Emmah
- Carlton Mycah Ann
- Carlton Paiyton
- Carlton Selah
- Carlton Silas
- Carlton Tiffany
- Carlton Timothy
- Carter Simon
- Carter Simon A.
- Chan Samuel
- Charles Symone
- Charles Virginia
- Cho Yeoungjee
- Christian Martin
- Cochat Pierre
- Coolican Helen
- Coppo Rosanna
- Cornish Stephen
- Craig Jonathan
- Craig Jonathan C.
- Crowe Sally
- Dart Allison
- Davis Ira
- Deschenes Georges
- Desmond Hailey
- Dixon Bradley
- Drozdz Dorota
- Dunn Louese
- Eddy Allison
- Eddy Allison A.
- Evangelidis Nicole
- Ferris Maria
- Fielding Amelia
- Fielding Anna
- Fielding Aria
- Fielding Craig
- Fielding Leo
- Fish Richard
- Flynn Joseph T.
- Foster Bethany
- Francis Anna
- Furth Susan
- Furth Susan L.
- Gardos Robert
- Gbadegesin Rasheed
- Geary Denis
- Germino Greg
- Gill John
- Gillespie Barbara
- Gipson Debbie
- Gipson Debbie S.
- Goebel Jens
- Goldstein Stuart
- Green Charmaine
- Greenbaum Larry
- Groothoff Jaap
- Guay-Woodford Lisa
- Guha Abhjit
- Guha Chandana
- Gutman Talia
- Ha Il-Soo
- Haffner Dieter
- Hamilton Alexander
- Hamiwka Lorraine
- Hanson Camilla
- Hanson Camilla S.
- Harris David
- Harris Tess
- Hemmelgarn Brenda
- Higgins Gail
- Hodson Elisabeth
- Holmes Luke
- Hooper David
- Howell Martin
- Ishikura Kenji
- JankauskienÄ Augustina
- Johnson Rebecca
- Ju Angela
- Karathanas Alyssa
- Karathanas Darien
- Karathanas Madelynn
- Karathanas Matthew
- Kausman Joshua
- Kelly Amy
- Kelly Ayano
- Kerklaan Jasmijn
- Khan Mohammad
- Khan Simra
- Ku Elaine
- Larkins Nicolas
- Leonard Mary
- LePage Amelia
- Levtchenko Elena
- Lippincott Leslie
- Lippincott Susan
- Liu Isaac
- Logeman Charlotte
- Macauley Luke
- Machuca Emma
- Machuca Jaime
- Machuca James
- Machuca Jimmy
- Machuca Yenissey
- Mackie Fiona
- Manera Karine
- Manera Karine E.
- Manns Braden
- Marks Stephen
- Matsuda-Abedini Mina
- Matus Andrea
- McCulloch Mignon
- McGee Richard
- McMichael Kelly-Ann
- McMichael Lachlan
- Mehrotra Rajnish
- Mejia-Saldivar Levi
- Mekahli Djalila
- Mendley Susan
- Meza Anthony
- Meza Carlos
- Meza Daniel
- Meza Norma
- Michael Mini
- Mirza Fatima
- Mitchell-Smith Harrison
- Mitchell-Smith Jo
- Mitchell-Smith Madison
- Mitchell-Smith Terri
- Morales Emily
- Morales Estefania
- Morales Giselle
- Morales Ricardo
- Moxey-Mims Marva
- Murphy Shannon
- Narva Andrew
- Natatmadja Melissa
- Neu Alicia
- Norton Jenna
- O'Lone Emma
- Olver Erin
- Olver Paige
- Pearl Meghan
- Pearson Simone
- Pecoits-Filho Roberto
- Perkins Christy
- Perkins Hayley
- Perkins Zachary
- Platona Adriana
- Plunkett Georgia
- Plunkett Ngairre
- Prestidge Chanel
- Querfeld Uwe
- Raina Rupesh
- Rao Jia
- Rees Lesley
- Rheault Michelle
- Romeo Brooklyn
- Romeo Ed
- Romeo Kennedy
- Saglimbene Valeria
- Sahney Shobha
- Saldivar Lidia
- Saldivar Rodolfo
- Salih Mohammad
- Salih Sheyma
- Salih Yusuf
- Salih Zeynab
- Samaniego Israel
- Samaniego Lizett
- Samuel Susan
- Samuels Joshua
- Sanchez Laura
- Sanchez-Kazi Cheryl
- Sautenet Benedicte
- Schaefer Franz
- Schmitt Claus Peter
- Scholes-Robertson Nicki
- Schreiber Martin
- Settee Craig
- Settee Kevin
- Sharma Ankit
- Sharma Sonia
- Shen Jenny
- Shen Jenny I.
- Shroff Rukshana
- Sinha Aditi
- Solarin Adaobi
- Sumpton Daniel
- Sutton Shanna
- Teixeira Ana
- Teixeira-Pinto Armando
- Tentori Francesca
- Teo Sharon
- Tonelli Marcello
- Tong Allison
- Trinh Lany
- Tugwell Peter
- Twombley Katherine
- Urbina Elaine
- van Biesen Wim
- van Kim Linh
- Vargas Rocio
- Vetter Thorsten
- Viecelli Andrea
- Viecelli Andrea K.
- Vivarelli Marina
- Vogt Beth
- Walker Amanda
- Walker Mandy
- Wang Angela Yee-Moon
- Warady Bradley
- Watson Jo
- Webb Nicholas J. A.
- Webb Nick
- Wenderfer Scott
- Wheeler David
- Wilson Skyla
- Winkelmayer Wolfgang
- Wolfenden Mark
- Wolfenden Raphael
- Wolfenden Sebastian
- Wong Germaine
- Woods-Barnard Alice
- Xu Hong
- Yap Hui-Kim
- Yoder Gerilyn
- Yoder Kaleb
- Yoder Nigel
- Youssouf Sajeda
- Zappitelli Michael
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/09/2020
- Field of study
Trials in children with chronic kidney disease do not consistently report outcomes that are critically important to patients and caregivers. This can diminish the relevance and reliability of evidence for decision making, limiting the implementation of results into practice and policy. As part of the Standardized Outcomes in NephrologyâChildren and Adolescents (SONG-Kids) initiative, we convened 2 consensus workshops in San Diego, California (7 patients, 24 caregivers, 43 health professionals) and Melbourne, Australia (7 patients, 23 caregivers, 49 health professionals). This report summarizes the discussions on the identification and implementation of the SONG-Kids core outcomes set. Four themes were identified; survival and life participation are common high priority goals, capturing the whole child and family, ensuring broad relevance across the patient journey, and requiring feasible and valid measures. Stakeholders supported the inclusion of mortality, infection, life participation, and kidney function as the core outcomes domains for children with chronic kidney disease
PSYCHIATRIC HOSPITAL CAPACITY, HOMELESSNESS, AND CRIME AND ARREST RATES*
- Author
- Adler Freda.
- American Hospital Association.
- Arvanites Thomas M.
- Avison William R.
- Bachrach Leona L.
- Bollen Kenneth A.
- Brenner M. Harvey.
- Bursik Robert J.
- Burt Martha R.
- Catalano Ralph
- Catalano Ralph
- Cocozza Joseph
- Dennis Deborah L.
- Ditton Paula M.
- Dowdall George W.
- Dvoskin Joel A.
- Elliot Marta
- Engel Robin Shepard
- Estroff Sue
- Felson Marcus.
- Felson Richard B.
- Fenwick Rudy
- Finn Peter E.
- Fisher William H.
- Goldstrom Ingrid
- Grob Gerald N.
- Gronfein William.
- Hagan John
- Hiday Virginia A.
- Hodgins Sheilagh.
- Horwitz Allan V.
- Issac Rael Jean
- Jackson Pamela I.
- Jencks Christopher.
- Johnson Ann B.
- Kessler Ronald C.
- Kiesler Charles A.
- Koslowe Patricia A.
- Lamb H. Richard
- Lamb H. Richard
- Lamb H. Richard
- Lamb H. Richard.
- Lamb H. Richard.
- Lewis Dan A.
- Link Bruce G.
- Link Bruce G.
- Liska Allen E.
- Lutterman Ted
- Markowitz Fred E.
- McCarthy Bill
- Mechanic David.
- Melick Mary E.
- Milazzo Laura J.
- Miller R. D.
- Monahan John
- Morris Suzanne M.
- Morrisey Joseph P.
- National Institute of Mental Health.
- O'Brien Robert M.
- Palermo George B.
- Penrose Lionel.
- Piven Francis F.
- Pogrebin Mark R.
- Redick Richard W.
- Robins Lee N.
- Roth L. H.
- Schlesinger Mark
- Scull Andrew.
- Silver Eric.
- Skogan Wesley G.
- Steadman Henry J.
- Steadman Henry J.
- Steadman Henry J.
- Steadman Henry J.
- Steadman Henry J.
- Steadman Henry J.
- Steffensmeier Darrell
- Steury Ellen H.
- Stevens L. Nye.
- Sutton John R.
- Swanson Jeffrey W.
- Task Force on Homelessness and Severe Mental Illness.
- Teplin Linda A.
- Teplin Linda A.
- Torrey E. Fuller.
- Torrey E. Fuller.
- Warner Richard.
- Wegner Eldon L.
- Weinstein Raymond M.
- Wilson James Q.
- Publication venue
- 'Wiley'
- Publication date
- Field of study