42 research outputs found
System size and centrality dependence of the balance function in A+A collisions at sqrt[sNN]=17.2 GeV
- Author
- Alt Christopher
- Antičić Tome
- Baatar B.
- Barna Daniel
- Bartke Jerzy
- Betev Latchezar
- Białkowska Helena
- Billmeier Anja
- Blume Christoph
- Boimska Bożena
- Botje Michiel
- Bracinik Juraj
- Bramm Roland
- Brun René
- Buncic Predrag
- Cerny Vladimir
- Christakoglou Panagiotis
- Chvala Ondrej
- Cramer John G.
- Csató Péter
- Darmenov Nikolay
- Dimitrov Anton
- Dinkelaker Peter
- Eckardt Volker
- Farantatos Gerassimos
- Flierl Dominik Bernhard
- Fodor Zoltan
- Foka Panagiota
- Freund P.
- Friese Volker
- Gazdzicki Marek
- Georgopoulos George
- Grebieszkow Katarzyna
- Gál József
- Gładysz-Dziaduś Ewa
- Hegyi Sándor
- Höhne Claudia
- Kadija Krešo
- Karev A.
- Kliemant Michael
- Kniege Stefan
- Kolesnikov Vadim Ivanovith
- Kollegger Thorsten
- Kornas Ewelina
- Korus Robert
- Kowalski M.
- Kraus Ingrid
- Kreps Michal
- Leeuwen Marco van
- Litov Leandr
- Lungwitz Benjamin
- Lévai Peter
- Makariev Martin
- Malakhov Aleksandr I.
- Markert Christina
- Mateev Matey
- Mayes Bill W.
- Melkumov Gueordi L.
- Meurer Christine
- Mischke André
- Mitrovski Michael
- Molnár J.
- Mrówczyński Stanislaw
- Panagiotou Apostolos D.
- Panayotov Dimitar
- Petridis Athanasios
- Pikna Miro
- Pinsky Lawrence
- Pálla Gabriella
- Pühlhofer Falk
- Reid Jeffrey G.
- Renfordt Rainer Ernst Arno
- Richard A.
- Roland Christof
- Roland Gunther
- Rybczynski Maciej
- Rybicki Andrzej
- Sandoval Andres
- Sann Hans
- Schmitz Norbert
- Seyboth Peter
- Siklér Ferenc
- Sitar Branislav
- Skrzypczak Ewa
- Stefanek Grzegorz
- Stock Reinhard
- Ströbele Herbert
- Susa Tatjana
- Szentpétery Imre
- Sziklai János
- Trubnikov Victor
- Varga Dezso
- Vassiliou Maria
- Veres Gábor
- Vesztergombi Gyoergy
- Vranic Danilo
- Wetzler Alexander Albert
- Włodarczyk Zbigniew
- Yoo In-Kwon
- Zaranek Jacek
- Zimányi József
- Publication venue
- Publication date
- 10/03/2005
- Field of study
Electric charge correlations were studied for p+p, C+C, Si+Si, and centrality selected Pb+Pb collisions at sqrt[sNN]=17.2 GeV with the NA49 large acceptance detector at the CERN SPS. In particular, long-range pseudorapidity correlations of oppositely charged particles were measured using the balance function method. The width of the balance function decreases with increasing system size and centrality of the reactions. This decrease could be related to an increasing delay of hadronization in central Pb+Pb collisions
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.
- Author
- Aarnoud Huissoon
- Abigail Furnell
- Adam Mead
- Adam P. Levine
- Adnan Manzur
- Adrian Thrasher
- Alan Greenhalgh
- Alasdair Parker
- Alba Sanchis-Juan
- Alex Richter
- Alice Gardham
- Allan Lawrie
- Aman Sohal
- Amanda Creaser-Myers
- Amy Frary
- Andreas Greinacher
- Andreas Themistocleous
- Andrew J. Peacock
- Andrew Marshall
- Andrew Mumford
- Andrew Rice
- Andrew Webster
- Andy G. Lynch
- Angie Brady
- Ania Koziell
- Ania Manson
- Anita Chandra
- Anke Hensiek
- Anna Huis in’t Veld
- Anna Maw
- Anne M. Kelly
- Anthony Moore
- Anton Vonk Noordegraaf
- Antony Attwood
- Archana Herwadkar
- Ardi Ghofrani
- Arjan C. Houweling
- Barbara Girerd
- Bruce Furie
- Carmen M. Treacy
- Carolyn M. Millar
- Carrock Sewell
- Catherine Roughley
- Catherine Titterton
- Catherine Williamson
- Charaka Hadinnapola
- Charu Deshpande
- Cheng-Hock Toh
- Chiara Bacchelli
- Chris Patch
- Chris Van Geet
- Christian Babbs
- Christine Bryson
- Christopher J. Penkett
- Christopher J. Rhodes
- Christopher Watt
- Claire Bethune
- Claire Booth
- Claire Lentaigne
- Coleen McJannet
- Colin Church
- Courtney French
- Crina Samarghitean
- Csaba Halmagyi
- Daniel Gale
- Daniel Greene
- Daniel Hart
- David Allsup
- David Bennett
- David Edgar
- David G. Kiely
- David Gosal
- David J. Perry
- David Keeling
- David Montani
- Debbie Shipley
- Deborah Whitehorn
- Debra Fletcher
- Deepa Krishnakumar
- Detelina Grozeva
- Dinakantha Kumararatne
- Dorothy Thompson
- Dragana Josifova
- Eamonn Maher
- Edwin K. S. Wong
- Elaine Murphy
- Eleanor Dewhurst
- Eleni Louka
- Elisabeth Rosser
- Elizabeth Chalmers
- Elizabeth Colby
- Elizabeth Drewe
- Elizabeth McDermott
- Ellen Thomas
- Emily Staples
- Emma Clement
- Emma Matthews
- Emma Wakeling
- Eric Oksenhendler
- Ernest Turro
- Evan Reid
- Evangeline Wassmer
- F. Lucy Raymond
- Fengyuan Hu
- Fiona Kennedy
- Florent Soubrier
- Frances Flinter
- Gabor Kovacs
- Gary Polwarth
- Gautum Ambegaonkar
- Gavin Arno
- Gavin Hudson
- Geoff Woods
- Gerry Coghlan
- Grant Hayman
- Gururaj Arumugakani
- Gwen Schotte
- H. Terry Cook
- Hana Alachkar
- Hana Lango Allen
- Hana Lango-Allen
- Hannah Stark
- Hans Stauss
- Harald Schulze
- Harm J. Boggard
- Helen Baxendale
- Helen Dolling
- Helen Firth
- Henning Gall
- Henry Watson
- Hilary Longhurst
- Hugh S. Markus
- Hugh Watkins
- Ilenia Simeoni
- Ingrid Emmerson
- Irene Roberts
- Isabella Quinti
- Ivy Wanjiku
- J. Simon R. Gibbs
- James H. R. Farmery
- James Thaventhiran
- James Whitworth
- Jane Hurst
- Janine Collins
- Jay Suntharalingam
- Jeanette Payne
- Jecko Thachil
- Jennifer M. Martin
- Jennifer Martin
- Jenny Carmichael
- Jesmeen Maimaris
- Joan Paterson
- Joanna Pepke-Zaba
- Johan W. M. Heemskerk
- Johanna Gebhart
- John Davis
- John Pasi
- John R. Bradley
- John Wharton
- Jonathan Stephens
- Julia Rankin
- Julie Anderson
- Julie Vogt
- Julie von Ziegenweldt
- Karola Rehnstrom
- Karyn Megy
- Kate Talks
- Kathelijne Peerlinck
- Katherine Yates
- Kathleen Freson
- Kathleen Stirrups
- Keith Gomez
- Kenneth G. C. Smith
- Keren Carss
- Kevin Rue-Albrecht
- Kimberley Gilmour
- Larahmie Masati
- Laura Scelsi
- Laura Southgate
- Lavanya Ranganathan
- Lionel Ginsberg
- Lisa Devlin
- Lisa Willcocks
- Liz Ormondroyd
- Lorena Lorenzo
- Lorraine Harper
- Louise Allen
- Louise Daugherty
- Manali Chitre
- Manju Kurian
- Marc Humbert
- Marc Tischkowitz
- Maria Bitner-Glindzicz
- Marie Erwood
- Marie Scully
- Marijke Veltman
- Mark Caulfield
- Mark Layton
- Mark McCarthy
- Mark Ponsford
- Mark Toshner
- Marta Bleda
- Martin Wilkins
- Mary Mathias
- Mary Reilly
- Maryam Afzal
- Matthew Brown
- Matthew Rondina
- Matthew Stubbs
- Matthias Haimel
- Melissa Lees
- Michael A. Laffan
- Michael Browning
- Michael Gattens
- Michael Richards
- Michel Michaelides
- Michele P. Lambert
- Mike L. Smith
- Mike Makris
- Minka De Vries
- Mohamed Mahdi-Rogers
- Moin Saleem
- Moira Thomas
- Muriel Holder
- Mélanie Eyries
- Naomi Clements-Brod
- Natalie Canham
- Natalie Dormand
- Natalie Van Zuydam
- Nathalie Kingston
- Neeti Ghali
- Nichola Cooper
- Nicholas W. Morrell
- Nigel Yeatman
- Noémi Roy
- null null
- Olga Shamardina
- Omid S. Alavijeh
- Paolo Gresele
- Paquita Nurden
- Patrick Chinnery
- Patrick Deegan
- Patrick Yong
- Patrick Yu-Wai-Man
- Paul A. Corris
- Paul Calleja
- Paul Gissen
- Paula Bolton-Maggs
- Paula Rayner-Matthews
- Pavandeep K. Ghataorhe
- Pavel Gordins
- Penelope Stein
- Peter Collins
- Peter Dixon
- Peter Kelleher
- Phil Ancliff
- Ping Yu
- R. Campbell Tait
- Rachel Linger
- Rainer Doffinger
- Rajiv Machado
- Rashid Kazmi
- Ravishankar Sargur
- Remi Favier
- Rhea Tan
- Ri Liesner
- Richard Antrobus
- Richard Sandford
- Richard Scott
- Richard Trembath
- Rita Horvath
- Rob Hadden
- Rob V. MackenzieRoss
- Robert Henderson
- Robert MacLaren
- Roger James
- Rohit Ghurye
- Rosa DaCosta
- Rosie Hague
- Rutendo Mapeta
- Ruth Armstrong
- Sadia Noorani
- Sai Murng
- Saikat Santra
- Salih Tuna
- Sally Johnson
- Sam Chong
- Sara Lear
- Sara Walker
- Sarah Goddard
- Sarah Mangles
- Sarah Westbury
- Sarju Mehta
- Scott Hackett
- Sergey Nejentsev
- Shahin Moledina
- Shahnaz Bibi
- Sharon Meehan
- Shokri Othman
- Shoshana Revel-Vilk
- Simon Holden
- Simon McGowan
- Simon Staines
- Sinisa Savic
- Siobhan Burns
- Sofia Grigoriadou
- Sofia Papadia
- Sofie Ashford
- Sol Schulman
- Sonia Ali
- Soo-Mi Park
- Sophie Davies
- Sophie Stock
- Souad Ali
- Sri V. V. Deevi
- Stefan Gräf
- Stefano Ghio
- Stephen J. Wort
- Stephen Jolles
- Steve Austin
- Steve Welch
- Stuart Meacham
- Stuart Rankin
- Suellen Walker
- Suranjith Seneviratne
- Susan Holder
- Suthesh Sivapalaratnam
- Sylvia Richardson
- Taco Kuijpers
- Taco W. Kuijpers
- Tadbir K. Bariana
- Tamam Bakchoul
- Tamara Everington
- Tara Renton
- Tim Young
- Timothy Aitman
- Timothy Q. Warner
- Tom Vale
- Tracey Hammerton
- Val Pollock
- Vera Matser
- Victoria Cookson
- Virginia Clowes
- Waseem Qasim
- Wei Wei
- Wendy N. Erber
- Willem H. Ouwehand
- William Astle
- William Egner
- Wojciech Turek
- Yvonne Henskens
- Yvonne Tan
- Publication venue
- Sci Rep
- Publication date
- 01/01/2018
- Field of study
Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The proliferation of whole genome sequencing represents an unprecedented opportunity to glean new insights into telomere biology on a previously unimaginable scale. To this end, a number of approaches for estimating telomere length from whole-genome sequencing data have been proposed. Here we present Telomerecat, a novel approach to the estimation of telomere length. Previous methods have been dependent on the number of telomeres present in a cell being known, which may be problematic when analysing aneuploid cancer data and non-human samples. Telomerecat is designed to be agnostic to the number of telomeres present, making it suited for the purpose of estimating telomere length in cancer studies. Telomerecat also accounts for interstitial telomeric reads and presents a novel approach to dealing with sequencing errors. We show that Telomerecat performs well at telomere length estimation when compared to leading experimental and computational methods. Furthermore, we show that it detects expected patterns in longitudinal data, repeated measurements, and cross-species comparisons. We also apply the method to a cancer cell data, uncovering an interesting relationship with the underlying telomerase genotype
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
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- Frankland John
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- Fraser David
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- Fu Gang
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- 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
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- Gao Anwu
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- 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
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- Gold Darren
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- 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
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- Gorvad Ann
- Gould Christine
- Goyea Ernest
- Goyette Audra
- Grady Deborah I.
- Grady Michelle L.
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- Graham Joe
- Grandbois Edward
- Grant Jennifer
- Grant Michael
- Grant Susan
- Graves Tina A.
- Gray Bruce
- Gray Emma
- Gray Lain
- Green Lisa
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- Gregg Philippa
- Gregory Simon
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- Griffith Jeffrey K.
- Griffiths Coline
- Griffiths Ed
- Griffiths Mark
- Griffiths-Jones Sam
- Grigoriev Igor
- Grimwood Jane
- Grocock Russell
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- Gu Jingli
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- Gu Wenyi
- Gu Wenyi
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- Guel Metzalli
- Guerra William
- Guevara Whitney V.
- Gui Qi
- Gunaratne Preethi
- Gunning Kate
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- Ha Chi
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- Hall Brittany
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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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- 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
- Hawley Kellie
- Haydu Lauren
- Hayes Kerry
- He Fengying
- He Jiaying
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- Heath Paul
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- Heinze Ivonne
- Heitmann Katja
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- Hepa Victor
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- 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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- Holmes Sarah
- Holroyd Simon
- Holtz Ann
- Holtzer Caleb
- Homsi Deana K.
- Homsi Farah J.
- Honan Tracy
- Hood Leroy
- Hooper Alison
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- Hornischer Klaus
- Hornsby Amber
- Hornsby Geoff
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- Hosoda Kei
- Hosono Katsuhiro
- Hosseini Roya
- Hou Shunfang
- Hou Xiaodi
- Houde Nathan
- Howard Philip
- Howard Stephanie R.
- Howden Philip
- Howe Kevin
- Howell Gareth
- Howell Latoya Lynette
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- Hsu Fan
- Hu George
- Hu Jie
- Hu Songnian
- Huang Fang
- Huang Guyang
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- Huang Mei
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- 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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- Hume Jennifer
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- 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
- Jiang Ziyou
- Jimenez Alberto
- Jin Jian
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- Jones Micheil
- Jones Myrna D.
- Jones Steven
- Jong Pieter De
- Jordan Yun
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- Järke Doris
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- Karunaratne Kanchi
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- Kato Takako
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- Kearney Lyndal
- Keefe Damian
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- 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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- Kodira Chinnappa
- Kohlberg Sara
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- 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
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- Kulish Larissa
- Kuroki Yoko
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- Laing Michael
- Laird Gavin
- Lam Edward
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- Lamar Betty
- Lambart Christine
- Lamble Ralph
- Lamerdin Jane E.
- Lander Eric S.
- Landers Tom
- Langford Cordelia
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- Lao Victoria
- Lapidus Alla
- Larke Ben
- Lato Bernadette
- Latreille Phil
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- Legall Fitzherbert Henderson, III
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- Lehman Karl
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- Lei Meng
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- Lennon Gregory
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- Levan Jaclyn M.
- Leversha Margaret
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- Levy Andrew
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- Lewis Doreen
- Lewis Ernest K.
- Lewis Keith
- Lewis Lakeshia C.
- Lewis Lora R.
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- Leyba Tina
- Li Changfeng
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- Lieuallen Kim
- Lightning Julia
- Lim Meng K.
- Lindblad-Toh Kerstin
- Lindo Ken
- Lindquist K.
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- Liu Yu
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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
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- Lv Gang
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- Machrus Migdad
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- Macken Catherine A.
- MacLean Christine
- Madabhushi Ramki
- Madu Renita C.
- Maeda Hideto
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- Maheshwari Manjula
- Mahindartne Mathew
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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
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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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- McLay Kirsten
- 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
- Meador Michael G.
- Medina Catherine
- Mehta Nalini
- Meidi Patrick
- Meier Elke
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- Mejima Mio
- Meldrim James
- Melsopp Craig
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- Meneus Louis
- Meng Shanshan
- Menuge Noel
- Mercado Christian
- Mercado George
- Mercado Iracema C.
- Mercer Simon
- Merritt Christina E.
- Mesirov Jill P.
- Metzker Michael Lee
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- Miller Christie
- Miller Donald
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- Miner Sheri
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- Minja Emmanuel
- Minoshima Shinsei
- Minx Patrick J.
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- Morgan Margaret B.
- Morita Hiroko
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- Mott Richard
- Moyzis Robert K.
- Mu Feng
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- Mulrain Leon
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- Munday Elaine
- Mundt Mark O.
- Mungall Andy
- Munidasa Mala
- Munk A. Christine
- Munk Christie A.
- Munson Glen
- Murakami Katsuhiko
- Murayama Yuji
- Murnane Clare
- Murphy Matthew B.
- Murphy Michael
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- Muzny Donna Marie
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- Nagamine Kentaro
- Nagao Syunsuke
- Nagaraja R.
- Nair Latha
- Nair Seema R.
- Naka Maho
- Nakagawa Masayo
- Nakagawa Saori
- Nakamura Etsuko
- Nakato Eriko
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- Nazareth Lynne V.
- Neal Dearl D.
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- Nelson Deborah A.
- Nelson Joanne
- Nelson Kathryn
- Nelson Ward
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- Newes Christian
- Newman April
- Ng Bee
- Ng Terrance
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- Nguyen Na
- Nguyen Natalie M.
- Nguyen Ngoc Bich
- Nguyen Thu
- Nhan Mike
- Ni Lin
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- Nickerson Tim
- Nicol Robert
- Nijjar Sukhjit
- Ning Zemin
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- Niu Yuxin
- Nivens Amber
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- 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
- Obregon Melissa
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- Ohno Saho
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- Ohtsubo Masafumi
- Oinn Tom
- Okoawo Ose
- Okui Michiyo
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- Okwuonu Geoffrey O.
- Okwuonu Kenneth C.
- Olarnpunsagoon Alisa
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- Oliver Hayley
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- Olson Maynard V.
- Omotosho Bamidele
- Onoda Junko
- Oomori Nobuhiro
- Ooshima Kenshiro
- Oragunye Njideka
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- Osman Sahal
- Ovcharenko Ivan
- Overton-Larty Emma
- Oviedo Rodolfo J.
- Ow David
- Ozawa Ritsuko
- Ozersky Philip
- Pace Araceli C.
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- Padki Anuradha
- Pahlavan Shane
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- Palazzolo Michael
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- Pan Jiaofeng
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- Parker Adrian
- Parker David Neil
- Parker Stephen
- Parkin Christopher
- Parkin Kim
- Parks Kenya L.
- Parry-Brown Ginny
- Parson-Quintana Beverly
- Pasternak Shiran
- Patel Bella Mayurkumar
- Patel Dina
- Patel Jalpa N.
- Patel Ritesh
- Patel Shripa
- Patel Vishal V.
- Patrick James
- Paul Heidie A.
- Paul Shelia
- Paulson Edward
- Payton Brett A.
- Pearce Alexandra
- Pearman Charlene
- Pearson Danita
- Pecherer Robert M.
- Peck Anna
- Peck Richard
- Pedan John
- Pelan Sarah
- Pelletier Eric
- Peng Vivian
- Peng Vivian
- Peng Yi
- Peng Yi
- Peng Ze
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- Pennacchio Len A.
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- Percy Chantel
- Perez Agapito
- Perez Lesette M.
- Perito Andrew
- Perrault Isabelle
- Perrier Rene
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- Perrin William
- Pesavento Brad
- Peters Anna
- Peters Leonard G.
- Peterson Jane
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- Piscia C.
- Pitesky Maurice
- Pitluck Sam
- Plajzer-Frick Ingrid
- Platt Darren
- Platzer Matthias
- Playford Emma
- Plopper Farah Jo Homsi
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- Woyke Tanja
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- Wray Paul
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- Wright Debbie
- Wright Kathrine
- Wright Kristin
- Wright Rita A.
- Wu Chungen
- Wu Dongying
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- Wu Jung-Rung
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- Wu Qingfa
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- Wu Xiaojing
- Wu Zaining
- Wyatt Julia
- Wycoff-Montenegro Melissa
- Wylie Kris
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- Wyman Stacia
- Xi Yan
- Xi Yingying
- Xie Fei
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- Xie Jane
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- Xu Alex
- Xu Jing
- Xu Jing
- Xu Ruqin
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- 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
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- Ye Chen
- Yeager Shane
- Yeh Mimi
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- Younger Ruth
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- Yu Jun
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- 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 ∼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
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
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- Gurling Hugh
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- Hart Deborah
- Hawkins Rose
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- He Liu
- Heemskerk Johan W.M.
- Hellens Stephen
- Henderson Alex
- Henderson Robert
- Hendricks Audrey
- Hensiek Anke
- Henskens Yvonne
- Herwadkar Archana
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- Holder Muriel
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- Holder Susan
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- Hurst Jane
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- Li Rui
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- Saggar Anand
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- Samarghitean Crina
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- Sivapalaratnam Suthesh
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- Skuse David
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- Sohal Aman
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- Splitt Miranda
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- Staples Emily
- Stauss Hans
- Stein Penelope
- Stephens Jonathan
- Stevens Elizabeth
- Stewart Fiona
- Stewart Helen
- Stirrups Kathleen
- Stock Sophie
- Straub Volker
- Sun Jianping
- Suntharalingam Jay
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- Swaminathan Ganesh Jawahar
- Sweeney Elizabeth
- Tachmazidou Ionna
- Tait R. Campbell
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- Thomas Ellen
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- Thrasher Adrian
- Tischkowitz Marc
- Tischkowitz Marc
- Titterton Catherine
- Tivey Adrian R.
- Tobin Martin D.
- Toh Cheng-Hock
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- Torokwa Audrey
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- 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)
Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.
- Author
- Afzal Maryam
- Aitman Timothy
- Alachkar Hana
- Alavijeh Omid S
- Ali Sonia
- Ali Souad
- Allen Hana Lango
- Allen Louise
- Allsup David
- Ambegaonkar Gautum
- Ancliff Phil
- Anderson Julie
- Antrobus Richard
- Armstrong Ruth
- Arno Gavin
- Arumugakani Gururaj
- Ashford Sofie
- Astle William
- Attwood Antony
- Austin Steve
- Babbs Christian
- Bacchelli Chiara
- Bakchoul Tamam
- Bariana Tadbir K
- Baxendale Helen
- Bennett David
- Bethune Claire
- Bibi Shahnaz
- Bitner-Glindzicz Maria
- Bleda Marta
- Boggard Harm J
- Bolton-Maggs Paula
- Booth Claire
- Bradley John R
- Brady Angie
- Brown Matthew
- Browning Michael
- Bryson Christine
- Burns Siobhan
- Calleja Paul
- Canham Natalie
- Carmichael Jenny
- Carss Keren
- Caulfield Mark
- Chalmers Elizabeth
- Chandra Anita
- Chinnery Patrick
- Chitre Manali
- Chong Sam
- Church Colin
- Clement Emma
- Clements-Brod Naomi
- Clowes Virginia
- Coghlan Gerry
- Colby Elizabeth
- Collins Janine
- Collins Peter
- Cook H Terry
- Cookson Victoria
- Cooper Nichola
- Corris Paul A
- Creaser-Myers Amanda
- DaCosta Rosa
- Daugherty Louise
- Davies Sophie
- Davis John
- De Vries Minka
- Deegan Patrick
- Deevi Sri VV
- Deshpande Charu
- Devlin Lisa
- Dewhurst Eleanor
- Dixon Peter
- Doffinger Rainer
- Dolling Helen
- Dormand Natalie
- Drewe Elizabeth
- Edgar David
- Egner William
- Emmerson Ingrid
- Erber Wendy N
- Erwood Marie
- Everington Tamara
- Eyries Melanie
- Farmery James HR
- Favier Remi
- Firth Helen
- Fletcher Debra
- Flinter Frances
- Frary Amy
- French Courtney
- Freson Kathleen
- Furie Bruce
- Furnell Abigail
- Gale Daniel
- Gall Henning
- Gardham Alice
- Gattens Michael
- Gebhart Johanna
- Ghali Neeti
- Ghataorhe Pavandeep K
- Ghio Stefano
- Ghofrani Ardi
- Ghurye Rohit
- Gibbs J Simon R
- Gilmour Kimberley
- Ginsberg Lionel
- Girerd Barbara
- Gissen Paul
- Goddard Sarah
- Gomez Keith
- Gordins Pavel
- Gosal David
- Graf Stefan
- Greene Daniel
- Greenhalgh Alan
- Greinacher Andreas
- Gresele Paolo
- Grigoriadou Sofia
- Grozeva Detelina
- Hackett Scott
- Hadden Rob
- Hadinnapola Charaka
- Hague Rosie
- Haimel Matthias
- Halmagyi Csaba
- Hammerton Tracey
- Harper Lorraine
- Hart Daniel
- Hayman Grant
- Heemskerk Johan WM
- Henderson Robert
- Hensiek Anke
- Henskens Yvonne
- Herwadkar Archana
- Holden Simon
- Holder Muriel
- Holder Susan
- Horvath Rita
- Houweling Arjan C
- Hu Fengyuan
- Hudson Gavin
- Huissoon Aarnoud
- Humbert Marc
- Hurst Jane
- in't Veld Anna Huis
- James Roger
- Johnson Sally
- Jolles Stephen
- Josifova Dragana
- Kazmi Rashid
- Keeling David
- Kelleher Peter
- Kelly Anne M
- Kennedy Fiona
- Kiely David G
- Kingston Nathalie
- Kovacs Gabor
- Koziell Ania
- Krishnakumar Deepa
- Kuijpers Taco
- Kuijpers Taco W
- Kumararatne Dinakantha
- Kurian Manju
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- Lear Sara
- Lees Melissa
- Lentaigne Claire
- Levine Adam P
- Liesner Ri
- Linger Rachel
- Longhurst Hilary
- Lorenzo Lorena
- Louka Eleni
- Lynch Andy G
- Machado Rajiv
- MackenzieRoss Rob V
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- Maimaris Jesmeen
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- Mangles Sarah
- Manson Ania
- Manzur Adnan
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- Markus Hugh S
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- Masati Larahmie
- Mathias Mary
- Matser Vera
- Matthews Emma
- Maw Anna
- McCarthy Mark
- McDermott Elizabeth
- McGowan Simon
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- Megy Karyn
- Mehta Sarju
- Michaelides Michel
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- Moledina Shahin
- Montani David
- Moore Anthony
- Morrell Nicholas W
- Mumford Andrew
- Murng Sai
- Murphy Elaine
- Nejentsev Sergey
- Noorani Sadia
- Noordegraaf Anton Vonk
- Nurden Paquita
- Oksenhendler Eric
- Ormondroyd Liz
- Othman Shokri
- Ouwehand Willem H
- Papadia Sofia
- Park Soo-Mi
- Parker Alasdair
- Pasi John
- Patch Chris
- Paterson Joan
- Payne Jeanette
- Peacock Andrew J
- Peerlinck Kathelijne
- Penkett Christopher J
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- Perry David J
- Pollock Val
- Polwarth Gary
- Ponsford Mark
- Qasim Waseem
- Quinti Isabella
- Ranganathan Lavanya
- Rankin Julia
- Rankin Stuart
- Raymond F Lucy
- Rayner-Matthews Paula
- Rehnstrom Karola
- Reid Evan
- Reilly Mary
- Renton Tara
- Revel-Vilk Shoshana
- Rhodes Christopher J
- Rice Andrew
- Richards Michael
- Richardson Sylvia
- Richter Alex
- Roberts Irene
- Rondina Matthew
- Rosser Elisabeth
- Roughley Catherine
- Roy Noemi
- Rue-Albrecht Kevin
- Saleem Moin
- Samarghitean Crina
- Sanchis-Juan Alba
- Sandford Richard
- Santra Saikat
- Sargur Ravishankar
- Savic Sinisa
- Scelsi Laura
- Schotte Gwen
- Schulman Sol
- Schulze Harald
- Scott Richard
- Scully Marie
- Seneviratne Suranjith
- Sewell Carrock
- Shamardina Olga
- Shipley Debbie
- Simeoni Ilenia
- Sivapalaratnam Suthesh
- Smith Kenneth GC
- Smith Mike L
- Sohal Aman
- Soubrier Florent
- Southgate Laura
- Staines Simon
- Staples Emily
- Stark Hannah
- Stauss Hans
- Stein Penelope
- Stephens Jonathan
- Stirrups Kathleen
- Stock Sophie
- Stubbs Matthew
- Suntharalingam Jay
- Tait R Campbell
- Talks Kate
- Tan Rhea
- Tan Yvonne
- Thachil Jecko
- Thaventhiran James
- Themistocleous Andreas
- Thomas Ellen
- Thomas Moira
- Thompson Dorothy
- Thrasher Adrian
- Tischkowitz Marc
- Titterton Catherine
- Toh Cheng-Hock
- Toshner Mark
- Treacy Carmen M
- Trembath Richard
- Tuna Salih
- Turek Wojciech
- Turro Ernest
- Vale Tom
- Van Geet Chris
- Van Zuydam Natalie
- Veltman Marijke
- Vogt Julie
- von Ziegenweldt Julie
- Wakeling Emma
- Walker Sara
- Walker Suellen
- Wanjiku Ivy
- Warner Timothy Q
- Wassmer Evangeline
- Watkins Hugh
- Watson Henry
- Watt Christopher
- Webster Andrew
- Wei Wei
- Welch Steve
- Westbury Sarah
- Wharton John
- Whitehorn Deborah
- Whitworth James
- Wilkins Martin
- Willcocks Lisa
- Williamson Catherine
- Wong Edwin KS
- Woods Geoff
- Wort Stephen J
- Yates Katherine
- Yeatman Nigel
- Yong Patrick
- Young Tim
- Yu Ping
- Yu-Wai-Man Patrick
- Publication venue
- Sci Rep
- Publication date
- 01/01/2018
- Field of study
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper
31st Annual Meeting and Associated Programs of the Society for Immunotherapy of Cancer (SITC 2016) : part two
- Author
- Abassi Yama
- Abelin Jennifer G
- Abolhalaj Milad
- Abraham Tara S
- Adam Ammar
- Adams David
- Adams Homer
- Adams Sarah F
- Adamus Tomasz
- Addepalli Murali
- Addepalli Murali
- Adjei Alex A
- Agapova Larissa
- Agarwala Sanjiv
- Ager Casey
- Aggarwal Charu
- Agnello Giulia
- Agudo Judith
- Aguilar Ethan G
- Aguilera Todd
- Ahamadi Malidi
- Ahn Yong-Oon
- Ahrens Eric T
- Aizer Ayal
- Ajina Reham
- Akerley Wallace
- Al-Muftah Mariam
- Albershardt Tina C
- Albershardt Tina C
- Albrekt Ann-Sofie
- Alekar Shilpa
- Alemany Ramon
- Alemany Ramon
- Alexander Brian
- Allbritton Omaira
- Allen Clint T
- Alley Evan W
- Allison James
- Allison James
- Allison James
- Alston Tesha
- Alt Jürgen
- Alters Susan
- Amatulli Michael
- Anand Snjezana
- Anand Snjezana
- Anand Snjezana
- Anderson Clark
- Anderson Mark
- Andersson Bengt
- Andre Pascale
- Andtbacka Robert H I
- Andtbacka Robert H I
- Angiuoli Sam
- Ansari Tameem
- Anthony Scott
- Antonarakis Emmanuel S
- Antonia Scott J
- Anwar Firoz
- Aquino-Michaels Keston
- Archer Jacob F
- Arina Ainhoa
- Armand Philippe
- Armenta Paul
- Armet Caroline M
- Arnoux Thomas
- Ascarateil Stephane
- Askmyr David
- Atkins Michael
- Atkins Michael B
- Atkinson Victoria
- Au Katrina
- Autio Karen A
- Awad Mark
- Bagarazzi Mark
- Bai Dina
- Baia Gilson
- Baird Jason
- Bajaj Anshika
- Balatoni Timea
- Balboni Tracy
- Balch Leslie
- Bang Andrew
- Bao Riyue
- Bao Yangyi
- Bao Yangyi
- Barakat David
- Barberi Theresa
- Barker Christopher A
- Barnea Eytan
- Barras David
- Bartkowiak Todd
- Bartlett David
- Bartlett David
- Bartlett David
- Bartlett David
- Barton Sunjay M
- Barve Minal
- Bauer Todd
- Bauer Todd W
- Bauman Julie
- Baumgaertner Petra
- Bauml Joshua
- Beceren-Braun Figen
- Beck Kristen
- Becker Annette
- Beckers Johannes
- Beckett Michael A
- Bedognetti Davide
- Bedognetti Davide
- Bedognetti Davide
- Bell Bryan
- Bell Charles J M
- Bell Peter
- Beltran Pedro
- Bender Lewis H
- Bender Steven
- Bennett Mark K
- Benz Steven
- Bera Tapan
- Berglund Peter
- Berglund Peter
- Berkey Sara
- Bernatchez Chantale
- Berry John S
- Berzofsky Jay A
- Bhardwaj Nina
- Bian Zhen
- Bianco Alberto
- Biediger Ronald J
- Bifulco Carlo
- Bigley Alison
- Bingham Patrick
- Biniszkiewicz Detlev M
- Bischoff Helge
- Blake Zoe
- Blake Zoe
- Blakely Collin
- Blazar Bruce R
- Blogowski Wojciech
- Bloom Anja C
- Boehm Jesse
- Bokovanov Vladimir
- Bommareddy Praveen K
- Bommareddy Praveen K
- Bommareddy Praveen K
- Bommareddy Praveen K
- Booth Jamie
- Bornschlegl Svetlana
- Bose Nandita
- Bossenmaier Birgit
- Boughorbel Sabri
- Boyer Jean
- Bramante Simona
- Branstetter Daniel
- Brech Dorothee
- Brenin David
- Broaddus V. C
- Brockstedt Dirk G
- Brockstedt Dirk G
- Brody Joshua
- Bronson Roderick
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- Faustman Denise
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- Franklin Wilbur
- Frascaro Federica
- Fraser Kathryn
- Frederix Kim
- Freimark Bruce
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- Ramachandra Raghuveer
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- Ramos Kimberly
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- Zhong Hong
- Zhou Li
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- Zippelius Alfred
- Zloza Andrew
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- Zloza Andrew
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- Zou Jun
- Zuba-Surma Ewa
- Zubkova Olga
- Zureikat Amer
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2016
- Field of study
Background
The immunological escape of tumors represents one of the main ob- stacles to the treatment of malignancies. The blockade of PD-1 or CTLA-4 receptors represented a milestone in the history of immunotherapy. However, immune checkpoint inhibitors seem to be effective in specific cohorts of patients. It has been proposed that their efficacy relies on the presence of an immunological response. Thus, we hypothesized that disruption of the PD-L1/PD-1 axis would synergize with our oncolytic vaccine platform PeptiCRAd.
Methods
We used murine B16OVA in vivo tumor models and flow cytometry analysis to investigate the immunological background.
Results
First, we found that high-burden B16OVA tumors were refractory to combination immunotherapy. However, with a more aggressive schedule, tumors with a lower burden were more susceptible to the combination of PeptiCRAd and PD-L1 blockade. The therapy signifi- cantly increased the median survival of mice (Fig. 7). Interestingly, the reduced growth of contralaterally injected B16F10 cells sug- gested the presence of a long lasting immunological memory also against non-targeted antigens. Concerning the functional state of tumor infiltrating lymphocytes (TILs), we found that all the immune therapies would enhance the percentage of activated (PD-1pos TIM- 3neg) T lymphocytes and reduce the amount of exhausted (PD-1pos TIM-3pos) cells compared to placebo. As expected, we found that PeptiCRAd monotherapy could increase the number of antigen spe- cific CD8+ T cells compared to other treatments. However, only the combination with PD-L1 blockade could significantly increase the ra- tio between activated and exhausted pentamer positive cells (p= 0.0058), suggesting that by disrupting the PD-1/PD-L1 axis we could decrease the amount of dysfunctional antigen specific T cells. We ob- served that the anatomical location deeply influenced the state of CD4+ and CD8+ T lymphocytes. In fact, TIM-3 expression was in- creased by 2 fold on TILs compared to splenic and lymphoid T cells. In the CD8+ compartment, the expression of PD-1 on the surface seemed to be restricted to the tumor micro-environment, while CD4 + T cells had a high expression of PD-1 also in lymphoid organs. Interestingly, we found that the levels of PD-1 were significantly higher on CD8+ T cells than on CD4+ T cells into the tumor micro- environment (p < 0.0001).
Conclusions
In conclusion, we demonstrated that the efficacy of immune check- point inhibitors might be strongly enhanced by their combination with cancer vaccines. PeptiCRAd was able to increase the number of antigen-specific T cells and PD-L1 blockade prevented their exhaus- tion, resulting in long-lasting immunological memory and increased median survival
PHARMACOLOGICAL CHARACTERIZATION OF A GHRELIN RECEPTOR ANTAGONIST/ INVERSE AGONIST, PF-5190457, AND ITS MAJOR ACTIVE HYDROXY METABOLITE
- Author
- Publication venue
- Publication date
- 01/01/2021
- Field of study
Initial Pharmacological Characterization of a Major Hydroxy Metabolite of PF-5190457: Inverse Agonist Activity of PF-6870961 at the Ghrelin Receptor
- Author
- Publication venue
- DigitalCommons@URI
- Publication date
- 01/08/2023
- Field of study
Preclinical and clinical studies have identified the ghrelin receptor [growth hormone secretagogue receptor (GHSR)1a] as a potential target for treating alcohol use disorder. A recent phase 1a clinical trial of a GHSR1a antagonist/inverse agonist, PF-5190457, in individuals with heavy alcohol drinking identified a previously undetected major hydroxy metabolite of PF-5190457, namely PF-6870961. Here, we further characterized PF-6870961 by screening for off-target interactions in a high-throughput screen and determined its in vitro pharmacodynamic profile at GHSR1a through binding and concentration-response assays. Moreover, we determined whether the metabolite demonstrated an in vivo effect by assessing effects on food intake in male and female rats. We found that PF-6870961 had no off-target interactions and demonstrated both binding affinity and inverse agonist activity at GHSR1a. In comparison with its parent compound, PF-5190457, the metabolite PF-6870961 had lower binding affinity and potency at inhibiting GHSR1a-induced inositol phosphate accumulation. However, PF-6870961 had increased inhibitory potency at GHSR1a-induced β-arrestin recruitment relative to its parent compound. Intraperitoneal injection of PF-6870961 suppressed food intake under conditions of both food restriction and with ad libitum access to food in male and female rats, demonstrating in vivo activity. The effects of PF-6870961 on food intake were abolished in male and female rats knockout for GHSR, thus demonstrating that its effects on food intake are in fact mediated by the GHSR receptor. Our findings indicate that the newly discovered major hydroxy metabolite of PF-5190457 may contribute to the overall activity of PF-5190457 by demonstrating inhibitory activity at GHSR1a. SIGNIFICANCE STATEMENT: Antagonists or inverse agonists of the growth hormone secretagogue receptor (GHSR)1a have demonstrated substantial potential as therapeutics for alcohol use disorder. We here expand understanding of the pharmacology of one such GHSR1a inverse agonist, PF-5190457, by studying the safety and pharmacodynamics of its major hydroxy metabolite, PF-6870961. Our data demonstrate biased inverse agonism of PF-6870961 at GHSR1a and provide new structure-activity relationship insight into GHSR1a inverse agonism
Indole-2-carboxamide Inhibitors of Human Liver Glycogen Phosphorylase †
- Author
- Publication venue
- 'American Chemical Society (ACS)'
- Publication date
- Field of study