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Research |
T cell and antibody responses induced by a single dose of ChAdOx1 nCoV-19 (AZD1222) vaccine in a phase 1/2 clinical trial
- Katie J. Ewer
- , Jordan R. Barrett
- , Sandra Belij-Rammerstorfer
- , Hannah Sharpe
- , Rebecca Makinson
- , Richard Morter
- , Amy Flaxman
- , Daniel Wright
- , Duncan Bellamy
- , Mustapha Bittaye
- , Christina Dold
- , Nicholas M. Provine
- , Jeremy Aboagye
- , Jamie Fowler
- , Sarah E. Silk
- , Jennifer Alderson
- , Parvinder K. Aley
- , Brian Angus
- , Eleanor Berrie
- , Sagida Bibi
- , Paola Cicconi
- , Elizabeth A. Clutterbuck
- , Irina Chelysheva
- , Pedro M. Folegatti
- , Michelle Fuskova
- , Catherine M. Green
- , Daniel Jenkin
- , Simon Kerridge
- , Alison Lawrie
- , Angela M. Minassian
- , Maria Moore
- , Yama Mujadidi
- , Emma Plested
- , Ian Poulton
- , Maheshi N. Ramasamy
- , Hannah Robinson
- , Rinn Song
- , Matthew D. Snape
- , Richard Tarrant
- , Merryn Voysey
- , Marion E. E. Watson
- , Alexander D. Douglas
- , Adrian V. S. Hill
- , Sarah C. Gilbert
- , Andrew J. Pollard
- , Teresa Lambe
- , Aabidah Ali
- , Elizabeth Allen
- , Megan Baker
- , Eleanor Barnes
- , Nicola Borthwick
- , Amy Boyd
- , Charlie Brown-O’Sullivan
- , Joshua Burgoyne
- , Nicholas Byard
- , Ingrid Cabrera Puig
- , Federica Cappuccini
- , Jee-Sun Cho
- , Paola Cicconi
- , Elizabeth Clark
- , Wendy E. M. Crocker
- , Mehreen S. Datoo
- , Hannah Davies
- , Susanna Jane Dunachie
- , Nick J. Edwards
- , Sean C. Elias
- , Julie Furze
- , Ciaran Gilbride
- , Stephanie A. Harris
- , Susanne H. C. Hodgson
- , Mimi M. Hou
- , Susan Jackson
- , Kathryn Jones
- , Reshma Kailath
- , Lloyd King
- , Colin W. Larkworthy
- , Yuanyuan Li
- , Amelia M. Lias
- , Aline Linder
- , Samuel Lipworth
- , Raquel Lopez Ramon
- , Meera Madhavan
- , Emma Marlow
- , Julia L. Marshall
- , Alexander J. Mentzer
- , Hazel Morrison
- , Andrés Noé
- , Dimitra Pipini
- , David Pulido-Gomez
- , Fernando Ramos Lopez
- , Adam John Ritchie
- , Indra Rudiansyah
- , Helen Sanders
- , Adam Shea
- , Sarah Silk
- , Alexandra J. Spencer
- , Rachel Tanner
- , Yrene Themistocleous
- , Merin Thomas
- , Nguyen Tran
- , Adam Truby
- , Cheryl Turner
- , Nicola Turner
- , Marta Ulaszewska
- , Andrew T. Worth
- , Lucy Kingham-Page
- , Marco Polo Peralta Alvarez
- , Rachel Anslow
- , Louise Bates
- , Kirsten Beadon
- , Rebecca Beckley
- , Amy Beveridge
- , Else Margreet Bijker
- , Luke Blackwell
- , Jamie Burbage
- , Susana Camara
- , Melanie Carr
- , Rachel Colin-Jones
- , Rachel Cooper
- , Christina J. Cunningham
- , Tesfaye Demissie
- , Claudio Di Maso
- , Naomi Douglas
- , Rachael Drake-Brockman
- , Ruth Elizabeth Drury
- , Katherine R. W. Emary
- , Sally Felle
- , Shuo Feng
- , Karen J. Ford
- , Emma Francis
- , Lara Gracie
- , Joseph Hamlyn
- , Brama Hanumunthadu
- , Daisy Harrison
- , Thomas C. Hart
- , Sophia Hawkins
- , Jennifer Hill
- , Elizabeth Howe
- , Nicola Howell
- , Elizabeth Jones
- , Jade Keen
- , Sarah Kelly
- , David Kerr
- , Liaquat Khan
- , Jasmin Kinch
- , Stanislava Koleva
- , Emily A. Lees
- , Alice Lelliott
- , Xinxue Liu
- , Spyridoula Marinou
- , Joanne McEwan
- , Ella Morey
- , Gertraud Morshead
- , Jilly Muller
- , Claire Munro
- , Sarah Murphy
- , Philomena Mweu
- , Elizabeth Nuthall
- , Katie O’Brien
- , Daniel O’Connor
- , Peter John O’Reilly
- , Blanché Oguti
- , Piper Osborne
- , Nelly Owino
- , Kaye Parker
- , Katja Pfafferott
- , Samuel Provstgaard-Morys
- , Helen Ratcliffe
- , Thomas Rawlinson
- , Sarah Rhead
- , Hannah Roberts
- , Katherine Sanders
- , Laura Silva-Reyes
- , Catherine C. Smith
- , David J. Smith
- , Anna Szigeti
- , Tonia M. Thomas
- , Amber Thompson
- , Susan Tonks
- , Rachel Varughes
- , Iason Vichos
- , Laura Walker
- , Caroline White
- , Rachel White
- , Xin Li Yao
- , Christopher P. Conlon
- , John Frater
- , Liliana Cifuentes
- , Ioana Baleanu
- , Emma Bolam
- , Elena Boland
- , Tanja Brenner
- , Brad E. Damratoski
- , Chandra Datta
- , Omar El Muhanna
- , Richard Fisher
- , Pablo Galian-Rubio
- , Gina Hodges
- , Frederic Jackson
- , Shuchang Liu
- , Lisa Loew
- , Roisin Morgans
- , Susan Jane Morris
- , Vicki Olchawski
- , Catarina Oliveria
- , Helena Parracho
- , Emilia Reyes Pabon
- , Abdessamad Tahiri-Alaoui
- , Keja Taylor
- , Paul Williams
- , Dalila Zizi
- , Edward H. Arbe-Barnes
- , Philip Baker
- , Alexander Batten
- , Charlotte Downing
- , Jonathan Drake
- , Marcus Rex English
- , John Aaron Henry
- , Poppy Iveson
- , Annabel Killen
- , Thomas B. King
- , Jessica P. J. Larwood
- , Gary Mallett
- , Kushal Mansatta
- , Neginsadat Mirtorabi
- , Maia Patrick-Smith
- , James Perring
- , Kajal Radia
- , Sophie Roche
- , Ella Schofield
- , Rebecca te Water Naude
- , James Towner
- , Natalie Baker
- , Kevin R. Bewley
- , Emily Brunt
- , Karen R. Buttigieg
- , Sue Charlton
- , Naomi S. Coombes
- , Michael J. Elmore
- , Kerry Godwin
- , Bassam Hallis
- , Daniel Knott
- , Lorna McInroy
- , Imam Shaik
- , Kelly Thomas
- , Julia A. Tree
- , Caitlin L. Blundell
- , Michelangelo Cao
- , Dearbhla Kelly
- , Donal T. Skelly
- , Andreas Themistocleous
- , Tao Dong
- , Samantha Field
- , Elizabeth Hamilton
- , Elizabeth Kelly
- , Paul Klenerman
- , Julian C. Knight
- , Yolanda Lie
- , Christos Petropoulos
- , Cynthia Sedik
- , Terri Wrin
- , Gretchen Meddaugh
- , Yanchun Peng
- , Gavin Screaton
- & Elizabeth Stafford
-
Research |
Phase 1/2 trial of SARS-CoV-2 vaccine ChAdOx1 nCoV-19 with a booster dose induces multifunctional antibody responses
- Jordan R. Barrett
- , Sandra Belij-Rammerstorfer
- , Christina Dold
- , Katie J. Ewer
- , Pedro M. Folegatti
- , Ciaran Gilbride
- , Rachel Halkerston
- , Jennifer Hill
- , Daniel Jenkin
- , Lisa Stockdale
- , Marije K. Verheul
- , Parvinder K. Aley
- , Brian Angus
- , Duncan Bellamy
- , Eleanor Berrie
- , Sagida Bibi
- , Mustapha Bittaye
- , Miles W. Carroll
- , Breeze Cavell
- , Elizabeth A. Clutterbuck
- , Nick Edwards
- , Amy Flaxman
- , Michelle Fuskova
- , Andrew Gorringe
- , Bassam Hallis
- , Simon Kerridge
- , Alison M. Lawrie
- , Aline Linder
- , Xinxue Liu
- , Meera Madhavan
- , Rebecca Makinson
- , Jack Mellors
- , Angela Minassian
- , Maria Moore
- , Yama Mujadidi
- , Emma Plested
- , Ian Poulton
- , Maheshi N. Ramasamy
- , Hannah Robinson
- , Christine S. Rollier
- , Rinn Song
- , Matthew D. Snape
- , Richard Tarrant
- , Stephen Taylor
- , Kelly M. Thomas
- , Merryn Voysey
- , Marion E. E. Watson
- , Daniel Wright
- , Alexander D. Douglas
- , Catherine M. Green
- , Adrian V. S. Hill
- , Teresa Lambe
- , Sarah Gilbert
- , Andrew J. Pollard
- , Jeremy Aboagye
- , Jennifer Alderson
- , Aabidah Ali
- , Elizabeth Allen
- , Lauren Allen
- , Rachel Anslow
- , Carolina V. Arancibia-Cárcamo
- , Edward H. Arbe-Barnes
- , Megan Baker
- , Philip Baker
- , Natalie Baker
- , Ioana Baleanu
- , Eleanor Barnes
- , Louise Bates
- , Alexander Batten
- , Kirsten Beadon
- , Rebecca Beckley
- , Amy Beveridge
- , Kevin R. Bewley
- , Else Margreet Bijker
- , Luke Blackwell
- , Caitlin L. Blundell
- , Emma Bolam
- , Elena Boland
- , Nicola Borthwick
- , Amy Boyd
- , Tanja Brenner
- , Philip Brown
- , Charlie Brown-O’Sullivan
- , Emily Brunt
- , Jamie Burbage
- , Karen R. Buttigieg
- , Nicholas Byard
- , Ingrid Cabrera Puig
- , Susana Camara
- , Michelangelo Cao
- , Federica Cappuccini
- , Melanie Carr
- , Miles W. Carroll
- , Jim Chadwick
- , Irina Chelysheva
- , Jee-Sun Cho
- , Liliana Cifuentes
- , Elizabeth Clark
- , Rachel Colin-Jones
- , Christopher P. Conlon
- , Naomi S. Coombes
- , Rachel Cooper
- , Wendy E. M. Crocker
- , Christina J. Cunningham
- , Brad E. Damratoski
- , Mehreen S. Datoo
- , Chandrabali Datta
- , Hannah Davies
- , Tesfaye Demissie
- , Claudio Di Maso
- , Danielle DiTirro
- , Tao Dong
- , Francesca R. Donnellan
- , Naomi Douglas
- , Charlotte Downing
- , Jonathan Drake
- , Rachael Drake-Brockman
- , Ruth Elizabeth Drury
- , Susanna Jane Dunachie
- , Omar El Muhanna
- , Sean C. Elias
- , Michael J. Elmore
- , Katherine R. W. Emary
- , Marcus Rex English
- , Sally Felle
- , Shuo Feng
- , Carla Ferreira Da Silva
- , Samantha Field
- , Richard Fisher
- , Karen J. Ford
- , Jamie Fowler
- , Emma Francis
- , John Frater
- , Julie Furze
- , Pablo Galian-Rubio
- , Harriet Garlant
- , Kerry Godwin
- , Giacomo Gorini
- , Lara Gracie
- , Gaurav Gupta
- , Elizabeth Hamilton
- , Joseph Hamlyn
- , Brama Hanumunthadu
- , Stephanie A. Harris
- , Daisy Harrison
- , Thomas C. Hart
- , Sophia Hawkins
- , John Aaron Henry
- , Gina Hodges
- , Susanne H. C. Hodgson
- , Mimi M. Hou
- , Elizabeth Howe
- , Nicola Howell
- , Ben Huang
- , Holly Humphries
- , Poppy Iveson
- , Susan Jackson
- , Frederic Jackson
- , Sam Jauregui
- , Katie Jeffery
- , Elizabeth Jones
- , Kathryn Jones
- , Reshma Kailath
- , Jade Keen
- , Sarah Kelly
- , Dearbhla Kelly
- , Elizabeth Kelly
- , David Kerr
- , Liaquat Khan
- , Baktash Khozoee
- , Annabel Killen
- , Jasmin Kinch
- , Thomas B. King
- , Lloyd King
- , Lucy Kingham-Page
- , Paul Klenerman
- , Julian C. Knight
- , Daniel Knott
- , Stanislava Koleva
- , Colin W. Larkworthy
- , Jessica P. J. Larwood
- , Emily A. Lees
- , Alice Lelliott
- , Stephanie Leung
- , Yuanyuan Li
- , Amelia M. Lias
- , Samuel Lipworth
- , Shuchang Liu
- , Lisa Loew
- , Raquel Lopez Ramon
- , Garry Mallett
- , Kushal Mansatta
- , Natalie G. Marchevsky
- , Spyridoula Marinou
- , Emma Marlow
- , Julia L. Marshall
- , Philippa Matthews
- , Joanne McEwan
- , Joanna McGlashan
- , Lorna McInroy
- , Gretchen Meddaugh
- , Alexander J. Mentzer
- , Neginsadat Mirtorabi
- , Ella Morey
- , Roisin Morgans
- , Susan Jane Morris
- , Hazel Morrison
- , Gertraud Morshead
- , Richard Morter
- , Nathifa Moya
- , Ekta Mukhopadhyay
- , Jilly Muller
- , Claire Munro
- , Sarah Murphy
- , Philomena Mweu
- , Andrés Noé
- , Fay L. Nugent
- , Elizabeth Nuthall
- , Katie O’Brien
- , Daniel O’Connor
- , Denise O’Donnell
- , Blanché Oguti
- , Vicki Olchawski
- , Catarina Oliveria
- , Peter John O’Reilly
- , Piper Osborne
- , Nelly Owino
- , Kaye Parker
- , Helena Parracho
- , Maia Patrick-Smith
- , Yanchun Peng
- , Elizabeth Penn
- , Marco Polo Peralta Alvarez
- , James Perring
- , Christos Petropoulos
- , Katja Pfafferott
- , Dimitra Pipini
- , Daniel Phillips
- , Pamela Proud
- , Samuel Provstgaard-Morys
- , David Pulido
- , Kajal Radia
- , Durga Rajapaksa
- , Fernando Ramos Lopez
- , Helen Ratcliffe
- , Thomas Rawlinson
- , Emilia Reyes Pabon
- , Sarah Rhead
- , Adam John Ritchie
- , Hannah Roberts
- , Sophie Roche
- , Indra Rudiansyah
- , Stephannie Salvador
- , Helen Sanders
- , Katherine Sanders
- , Iman Satti
- , Annina Schmid
- , Ella Schofield
- , Gavin Screaton
- , Cynthia Sedik
- , Imam Shaik
- , Hannah R. Sharpe
- , Adam Shea
- , Sarah Silk
- , Laura Silva-Reyes
- , Donal T. Skelly
- , Catherine C. Smith
- , David J. Smith
- , Alexandra J. Spencer
- , Elizabeth Stafford
- , Anna Szigeti
- , Abdessamad Tahiri-Alaoui
- , Rachel Tanner
- , Iona Jennifer Taylor
- , Keja Taylor
- , Rebecca te Water Naude
- , Yrene Themistocleous
- , Andreas Themistocleous
- , Merin Thomas
- , Tonia M. Thomas
- , Amber Thompson
- , Lan Tinh
- , Adriana Tomic
- , Susan Tonks
- , James Towner
- , Nguyen Tran
- , Julia A. Tree
- , Adam Truby
- , Cheryl Turner
- , Nicola Turner
- , Marta Ulaszewska
- , Rachel Varughese
- , Iason Vichos
- , Laura Walker
- , Matthew Wand
- , Caroline White
- , Rachel White
- , Paul Williams
- , Andrew T. Worth
- , Terri Wrin
- , Xin Li Yao
- & Dalila Zizi
-
Research |
Evidence for 28 genetic disorders discovered by combining healthcare and research data
- Joanna Kaplanis
- , Kaitlin E. Samocha
- , Laurens Wiel
- , Zhancheng Zhang
- , Kevin J. Arvai
- , Ruth Y. Eberhardt
- , Giuseppe Gallone
- , Stefan H. Lelieveld
- , Hilary C. Martin
- , Jeremy F. McRae
- , Patrick J. Short
- , Rebecca I. Torene
- , Elke de Boer
- , Petr Danecek
- , Eugene J. Gardner
- , Ni Huang
- , Jenny Lord
- , Iñigo Martincorena
- , Rolph Pfundt
- , Margot R. F. Reijnders
- , Alison Yeung
- , Helger G. Yntema
- , Silvia Borras
- , Caroline Clark
- , John Dean
- , Zosia Miedzybrodzka
- , Alison Ross
- , Stephen Tennant
- , Tabib Dabir
- , Deirdre Donnelly
- , Mervyn Humphreys
- , Alex Magee
- , Vivienne McConnell
- , Shane McKee
- , Susan McNerlan
- , Patrick J. Morrison
- , Gillian Rea
- , Fiona Stewart
- , Trevor Cole
- , Nicola Cooper
- , Lisa Cooper-Charles
- , Helen Cox
- , Lily Islam
- , Joanna Jarvis
- , Rebecca Keelagher
- , Derek Lim
- , Dominic McMullan
- , Jenny Morton
- , Swati Naik
- , Mary O’Driscoll
- , Kai-Ren Ong
- , Deborah Osio
- , Nicola Ragge
- , Sarah Turton
- , Julie Vogt
- , Denise Williams
- , Simon Bodek
- , Alan Donaldson
- , Alison Hills
- , Karen Low
- , Ruth Newbury-Ecob
- , Andrew M. Norman
- , Eileen Roberts
- , Ingrid Scurr
- , Sarah Smithson
- , Madeleine Tooley
- , Steve Abbs
- , Ruth Armstrong
- , Carolyn Dunn
- , Simon Holden
- , Soo-Mi Park
- , Joan Paterson
- , Lucy Raymond
- , Evan Reid
- , Richard Sandford
- , Ingrid Simonic
- , Marc Tischkowitz
- , Geoff Woods
- , Lisa Bradley
- , Joanne Comerford
- , Andrew Green
- , Sally Lynch
- , Shirley McQuaid
- , Brendan Mullaney
- , Jonathan Berg
- , David Goudie
- , Eleni Mavrak
- , Joanne McLean
- , Catherine McWilliam
- , Eleanor Reavey
- , Tara Azam
- , Elaine Cleary
- , Andrew Jackson
- , Wayne Lam
- , Anne Lampe
- , David Moore
- , Mary Porteous
- , Emma Baple
- , Júlia Baptista
- , Carole Brewer
- , Bruce Castle
- , Emma Kivuva
- , Martina Owens
- , Julia Rankin
- , Charles Shaw-Smith
- , Claire Turner
- , Peter Turnpenny
- , Carolyn Tysoe
- , Therese Bradley
- , Rosemarie Davidson
- , Carol Gardiner
- , Shelagh Joss
- , Esther Kinning
- , Cheryl Longman
- , Ruth McGowan
- , Victoria Murday
- , Daniela Pilz
- , Edward Tobias
- , Margo Whiteford
- , Nicola Williams
- , Angela Barnicoat
- , Emma Clement
- , Francesca Faravelli
- , Jane Hurst
- , Lucy Jenkins
- , Wendy Jones
- , V. K. Ajith Kumar
- , Melissa Lees
- , Sam Loughlin
- , Alison Male
- , Deborah Morrogh
- , Elisabeth Rosser
- , Richard Scott
- , Louise Wilson
- , Ana Beleza
- , Charu Deshpande
- , Frances Flinter
- , Muriel Holder
- , Melita Irving
- , Louise Izatt
- , Dragana Josifova
- , Shehla Mohammed
- , Aneta Molenda
- , Leema Robert
- , Wendy Roworth
- , Deborah Ruddy
- , Mina Ryten
- , Shu Yau
- , Christopher Bennett
- , Moira Blyth
- , Jennifer Campbell
- , Andrea Coates
- , Angus Dobbie
- , Sarah Hewitt
- , Emma Hobson
- , Eilidh Jackson
- , Rosalyn Jewell
- , Alison Kraus
- , Katrina Prescott
- , Eamonn Sheridan
- , Jenny Thomson
- , Kirsty Bradshaw
- , Abhijit Dixit
- , Jacqueline Eason
- , Rebecca Haines
- , Rachel Harrison
- , Stacey Mutch
- , Ajoy Sarkar
- , Claire Searle
- , Nora Shannon
- , Abid Sharif
- , Mohnish Suri
- , Pradeep Vasudevan
- , Natalie Canham
- , Ian Ellis
- , Lynn Greenhalgh
- , Emma Howard
- , Victoria Stinton
- , Andrew Swale
- , Astrid Weber
- , Siddharth Banka
- , Catherine Breen
- , Tracy Briggs
- , Emma Burkitt-Wright
- , Kate Chandler
- , Jill Clayton-Smith
- , Dian Donnai
- , Sofia Douzgou
- , Lorraine Gaunt
- , Elizabeth Jones
- , Bronwyn Kerr
- , Claire Langley
- , Kay Metcalfe
- , Audrey Smith
- , Ronnie Wright
- , David Bourn
- , John Burn
- , Richard Fisher
- , Steve Hellens
- , Alex Henderson
- , Tara Montgomery
- , Miranda Splitt
- , Volker Straub
- , Michael Wright
- , Simon Zwolinski
- , Zoe Allen
- , Birgitta Bernhard
- , Angela Brady
- , Claire Brooks
- , Louise Busby
- , Virginia Clowes
- , Neeti Ghali
- , Susan Holder
- , Rita Ibitoye
- , Emma Wakeling
- , Edward Blair
- , Jenny Carmichael
- , Deirdre Cilliers
- , Susan Clasper
- , Richard Gibbons
- , Usha Kini
- , Tracy Lester
- , Andrea Nemeth
- , Joanna Poulton
- , Sue Price
- , Debbie Shears
- , Helen Stewart
- , Andrew Wilkie
- , Shadi Albaba
- , Duncan Baker
- , Meena Balasubramanian
- , Diana Johnson
- , Michael Parker
- , Oliver Quarrell
- , Alison Stewart
- , Josh Willoughby
- , Charlene Crosby
- , Frances Elmslie
- , Tessa Homfray
- , Huilin Jin
- , Nayana Lahiri
- , Sahar Mansour
- , Karen Marks
- , Meriel McEntagart
- , Anand Saggar
- , Kate Tatton-Brown
- , Rachel Butler
- , Angus Clarke
- , Sian Corrin
- , Andrew Fry
- , Arveen Kamath
- , Emma McCann
- , Hood Mugalaasi
- , Caroline Pottinger
- , Annie Procter
- , Julian Sampson
- , Francis Sansbury
- , Vinod Varghese
- , Diana Baralle
- , Alison Callaway
- , Emma J. Cassidy
- , Stacey Daniels
- , Andrew Douglas
- , Nicola Foulds
- , David Hunt
- , Mira Kharbanda
- , Katherine Lachlan
- , Catherine Mercer
- , Lucy Side
- , I. Karen Temple
- , Diana Wellesley
- , Lisenka E. L. M. Vissers
- , Jane Juusola
- , Caroline F. Wright
- , Han G. Brunner
- , Helen V. Firth
- , David R. FitzPatrick
- , Jeffrey C. Barrett
- , Matthew E. Hurles
- , Christian Gilissen
- & Kyle Retterer
-
Research |
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
- Siddharth Banka
- , Ratna Veeramachaneni
- , William Reardon
- , Emma Howard
- , Sancha Bunstone
- , Nicola Ragge
- , Michael J Parker
- , Yanick J Crow
- , Bronwyn Kerr
- , Helen Kingston
- , Kay Metcalfe
- , Kate Chandler
- , Alex Magee
- , Fiona Stewart
- , Vivienne P M McConnell
- , Deirdre E Donnelly
- , Siren Berland
- , Gunnar Houge
- , Jenny E Morton
- , Christine Oley
- , Nicole Revencu
- , Soo-Mi Park
- , Sally J Davies
- , Andrew E Fry
- , Sally Ann Lynch
- , Harinder Gill
- , Susann Schweiger
- , Wayne W K Lam
- , John Tolmie
- , Shehla N Mohammed
- , Emma Hobson
- , Audrey Smith
- , Moira Blyth
- , Christopher Bennett
- , Pradeep C Vasudevan
- , Sixto García-Miñaúr
- , Alex Henderson
- , Judith Goodship
- , Michael J Wright
- , Richard Fisher
- , Richard Gibbons
- , Susan M Price
- , Deepthi C de Silva
- , I Karen Temple
- , Amanda L Collins
- , Katherine Lachlan
- , Frances Elmslie
- , Meriel McEntagart
- , Bruce Castle
- , Jill Clayton-Smith
- , Graeme C Black
- & Dian Donnai
-
Research | | Open
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
- Kathleen A. Williamson
- , H. Nikki Hall
- , Liusaidh J. Owen
- , Benjamin J. Livesey
- , Isabel M. Hanson
- , G. G. W. Adams
- , Simon Bodek
- , Patrick Calvas
- , Bruce Castle
- , Michael Clarke
- , Alexander T. Deng
- , Patrick Edery
- , Richard Fisher
- , Gabriele Gillessen-Kaesbach
- , Elise Heon
- , Jane Hurst
- , Dragana Josifova
- , Birgit Lorenz
- , Shane McKee
- , Francoise Meire
- , Anthony T. Moore
- , Michael Parker
- , Charlotte M. Reiff
- , Jay Self
- , Edward S. Tobias
- , Joke B. G. M. Verheij
- , Marjolaine Willems
- , Denise Williams
- , Veronica van Heyningen
- , Joseph A. Marsh
- & David R. FitzPatrick
-
Amendments and Corrections | | Open
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
- Lot Snijders Blok
- , Justine Rousseau
- , Joanna Twist
- , Sophie Ehresmann
- , Motoki Takaku
- , Hanka Venselaar
- , Lance H. Rodan
- , Catherine B. Nowak
- , Jessica Douglas
- , Kathryn J. Swoboda
- , Marcie A. Steeves
- , Inderneel Sahai
- , Connie T. R. M. Stumpel
- , Alexander P. A. Stegmann
- , Patricia Wheeler
- , Marcia Willing
- , Elise Fiala
- , Aaina Kochhar
- , William T. Gibson
- , Ana S. A. Cohen
- , Ruky Agbahovbe
- , A. Micheil Innes
- , P. Y. Billie Au
- , Julia Rankin
- , Ilse J. Anderson
- , Steven A. Skinner
- , Raymond J. Louie
- , Hannah E. Warren
- , Alexandra Afenjar
- , Boris Keren
- , Caroline Nava
- , Julien Buratti
- , Arnaud Isapof
- , Diana Rodriguez
- , Raymond Lewandowski
- , Jennifer Propst
- , Ton van Essen
- , Murim Choi
- , Sangmoon Lee
- , Jong H. Chae
- , Susan Price
- , Rhonda E. Schnur
- , Ganka Douglas
- , Ingrid M. Wentzensen
- , Christiane Zweier
- , André Reis
- , Martin G. Bialer
- , Christine Moore
- , Marije Koopmans
- , Eva H. Brilstra
- , Glen R. Monroe
- , Koen L. I. van Gassen
- , Ellen van Binsbergen
- , Ruth Newbury-Ecob
- , Lucy Bownass
- , Ingrid Bader
- , Johannes A. Mayr
- , Saskia B. Wortmann
- , Kathy J. Jakielski
- , Edythe A. Strand
- , Katja Kloth
- , Tatjana Bierhals
- , Jeremy F. McRae
- , Stephen Clayton
- , Tomas W. Fitzgerald
- , Joanna Kaplanis
- , Elena Prigmore
- , Diana Rajan
- , Alejandro Sifrim
- , Stuart Aitken
- , Nadia Akawi
- , Mohsan Alvi
- , Kirsty Ambridge
- , Daniel M. Barrett
- , Tanya Bayzetinova
- , Philip Jones
- , Wendy D. Jones
- , Daniel King
- , Netravathi Krishnappa
- , Laura E. Mason
- , Tarjinder Singh
- , Adrian R. Tivey
- , Munaza Ahmed
- , Uruj Anjum
- , Hayley Archer
- , Ruth Armstrong
- , Jana Awada
- , Meena Balasubramanian
- , Siddharth Banka
- , Diana Baralle
- , Angela Barnicoat
- , Paul Batstone
- , David Baty
- , Chris Bennett
- , Jonathan Berg
- , Birgitta Bernhard
- , A. Paul Bevan
- , Maria Bitner-Glindzicz
- , Edward Blair
- , Moira Blyth
- , David Bohanna
- , Louise Bourdon
- , David Bourn
- , Lisa Bradley
- , Angela Brady
- , Simon Brent
- , Carole Brewer
- , Kate Brunstrom
- , David J. Bunyan
- , John Burn
- , Natalie Canham
- , Bruce Castle
- , Kate Chandler
- , Elena Chatzimichali
- , Deirdre Cilliers
- , Angus Clarke
- , Susan Clasper
- , Jill Clayton-Smith
- , Virginia Clowes
- , Andrea Coates
- , Trevor Cole
- , Irina Colgiu
- , Amanda Collins
- , Morag N. Collinson
- , Fiona Connell
- , Nicola Cooper
- , Helen Cox
- , Lara Cresswell
- , Gareth Cross
- , Yanick Crow
- , Mariella D’Alessandro
- , Tabib Dabir
- , Rosemarie Davidson
- , Sally Davies
- , Dylan de Vries
- , John Dean
- , Charu Deshpande
- , Gemma Devlin
- , Abhijit Dixit
- , Angus Dobbie
- , Alan Donaldson
- , Dian Donnai
- , Deirdre Donnelly
- , Carina Donnelly
- , Angela Douglas
- , Sofia Douzgou
- , Alexis Duncan
- , Jacqueline Eason
- , Sian Ellard
- , Ian Ellis
- , Frances Elmslie
- , Karenza Evans
- , Sarah Everest
- , Tina Fendick
- , Richard Fisher
- , Frances Flinter
- , Nicola Foulds
- , Andrew Fry
- , Alan Fryer
- , Carol Gardiner
- , Lorraine Gaunt
- , Neeti Ghali
- , Richard Gibbons
- , Harinder Gill
- , Judith Goodship
- , David Goudie
- , Emma Gray
- , Andrew Green
- , Philip Greene
- , Lynn Greenhalgh
- , Susan Gribble
- , Rachel Harrison
- , Lucy Harrison
- , Victoria Harrison
- , Rose Hawkins
- , Liu He
- , Stephen Hellens
- , Alex Henderson
- , Sarah Hewitt
- , Lucy Hildyard
- , Emma Hobson
- , Simon Holden
- , Muriel Holder
- , Susan Holder
- , Georgina Hollingsworth
- , Tessa Homfray
- , Mervyn Humphreys
- , Jane Hurst
- , Ben Hutton
- , Stuart Ingram
- , Melita Irving
- , Lily Islam
- , Andrew Jackson
- , Joanna Jarvis
- , Lucy Jenkins
- , Diana Johnson
- , Elizabeth Jones
- , Dragana Josifova
- , Shelagh Joss
- , Beckie Kaemba
- , Sandra Kazembe
- , Rosemary Kelsell
- , Bronwyn Kerr
- , Helen Kingston
- , Usha Kini
- , Esther Kinning
- , Gail Kirby
- , Claire Kirk
- , Emma Kivuva
- , Alison Kraus
- , Dhavendra Kumar
- , V. K. Ajith Kumar
- , Katherine Lachlan
- , Wayne Lam
- , Anne Lampe
- , Caroline Langman
- , Melissa Lees
- , Derek Lim
- , Cheryl Longman
- , Gordon Lowther
- , Sally A. Lynch
- , Alex Magee
- , Eddy Maher
- , Alison Male
- , Sahar Mansour
- , Karen Marks
- , Katherine Martin
- , Una Maye
- , Emma McCann
- , Vivienne McConnell
- , Meriel McEntagart
- , Ruth McGowan
- , Kirsten McKay
- , Shane McKee
- , Dominic J. McMullan
- , Susan McNerlan
- , Catherine McWilliam
- , Sarju Mehta
- , Kay Metcalfe
- , Anna Middleton
- , Zosia Miedzybrodzka
- , Emma Miles
- , Shehla Mohammed
- , Tara Montgomery
- , David Moore
- , Sian Morgan
- , Jenny Morton
- , Hood Mugalaasi
- , Victoria Murday
- , Helen Murphy
- , Swati Naik
- , Andrea Nemeth
- , Louise Nevitt
- , Andrew Norman
- , Rosie O’Shea
- , Caroline Ogilvie
- , Kai-Ren Ong
- , Soo-Mi Park
- , Michael J. Parker
- , Chirag Patel
- , Joan Paterson
- , Stewart Payne
- , Daniel Perrett
- , Julie Phipps
- , Daniela T. Pilz
- , Martin Pollard
- , Caroline Pottinger
- , Joanna Poulton
- , Norman Pratt
- , Katrina Prescott
- , Abigail Pridham
- , Annie Procter
- , Hellen Purnell
- , Oliver Quarrell
- , Nicola Ragge
- , Raheleh Rahbari
- , Josh Randall
- , Lucy Raymond
- , Debbie Rice
- , Leema Robert
- , Eileen Roberts
- , Jonathan Roberts
- , Paul Roberts
- , Gillian Roberts
- , Alison Ross
- , Elisabeth Rosser
- , Anand Saggar
- , Shalaka Samant
- , Julian Sampson
- , Richard Sandford
- , Ajoy Sarkar
- , Susann Schweiger
- , Richard Scott
- , Ingrid Scurr
- , Ann Selby
- , Anneke Seller
- , Cheryl Sequeira
- , Nora Shannon
- , Saba Sharif
- , Charles Shaw-Smith
- , Emma Shearing
- , Debbie Shears
- , Eamonn Sheridan
- , Ingrid Simonic
- , Roldan Singzon
- , Zara Skitt
- , Audrey Smith
- , Kath Smith
- , Sarah Smithson
- , Linda Sneddon
- , Miranda Splitt
- , Miranda Squires
- , Fiona Stewart
- , Helen Stewart
- , Volker Straub
- , Mohnish Suri
- , Vivienne Sutton
- , Ganesh Jawahar Swaminathan
- , Elizabeth Sweeney
- , Kate Tatton-Brown
- , Cat Taylor
- , Rohan Taylor
- , Mark Tein
- , I. Karen Temple
- , Jenny Thomson
- , Marc Tischkowitz
- , Susan Tomkins
- , Audrey Torokwa
- , Becky Treacy
- , Claire Turner
- , Peter Turnpenny
- , Carolyn Tysoe
- , Anthony Vandersteen
- , Vinod Varghese
- , Pradeep Vasudevan
- , Parthiban Vijayarangakannan
- , Julie Vogt
- , Emma Wakeling
- , Sarah Wallwark
- , Jonathon Waters
- , Astrid Weber
- , Diana Wellesley
- , Margo Whiteford
- , Sara Widaa
- , Sarah Wilcox
- , Emily Wilkinson
- , Denise Williams
- , Nicola Williams
- , Louise Wilson
- , Geoff Woods
- , Christopher Wragg
- , Michael Wright
- , Laura Yates
- , Michael Yau
- , Chris Nellåker
- , Michael Parker
- , Helen V. Firth
- , Caroline F. Wright
- , David R. FitzPatrick
- , Jeffrey C. Barrett
- , Matthew E. Hurles
- , John D. Roberts
- , Robert M. Petrovich
- , Shinichi Machida
- , Hitoshi Kurumizaka
- , Stefan Lelieveld
- , Rolph Pfundt
- , Sandra Jansen
- , Pelagia Deriziotis
- , Laurence Faivre
- , Julien Thevenon
- , Mirna Assoum
- , Lawrence Shriberg
- , Tjitske Kleefstra
- , Han G. Brunner
- , Paul A. Wade
- , Simon E. Fisher
- & Philippe M. Campeau
-
Amendments and Corrections | | Open
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
- Lot Snijders Blok
- , Justine Rousseau
- , Joanna Twist
- , Sophie Ehresmann
- , Motoki Takaku
- , Hanka Venselaar
- , Lance H. Rodan
- , Catherine B. Nowak
- , Jessica Douglas
- , Kathryn J. Swoboda
- , Marcie A. Steeves
- , Inderneel Sahai
- , Connie T. R. M. Stumpel
- , Alexander P. A. Stegmann
- , Patricia Wheeler
- , Marcia Willing
- , Elise Fiala
- , Aaina Kochhar
- , William T. Gibson
- , Ana S. A. Cohen
- , Ruky Agbahovbe
- , A. Micheil Innes
- , P. Y. Billie Au
- , Julia Rankin
- , Ilse J. Anderson
- , Steven A. Skinner
- , Raymond J. Louie
- , Hannah E. Warren
- , Alexandra Afenjar
- , Boris Keren
- , Caroline Nava
- , Julien Buratti
- , Arnaud Isapof
- , Diana Rodriguez
- , Raymond Lewandowski
- , Jennifer Propst
- , Ton van Essen
- , Murim Choi
- , Sangmoon Lee
- , Jong H. Chae
- , Susan Price
- , Rhonda E. Schnur
- , Ganka Douglas
- , Ingrid M. Wentzensen
- , Christiane Zweier
- , André Reis
- , Martin G. Bialer
- , Christine Moore
- , Marije Koopmans
- , Eva H. Brilstra
- , Glen R. Monroe
- , Koen L. I. van Gassen
- , Ellen van Binsbergen
- , Ruth Newbury-Ecob
- , Lucy Bownass
- , Ingrid Bader
- , Johannes A. Mayr
- , Saskia B. Wortmann
- , Kathy J. Jakielski
- , Edythe A. Strand
- , Katja Kloth
- , Tatjana Bierhals
- , Jeremy F. McRae
- , Stephen Clayton
- , Tomas W. Fitzgerald
- , Joanna Kaplanis
- , Elena Prigmore
- , Diana Rajan
- , Alejandro Sifrim
- , Stuart Aitken
- , Nadia Akawi
- , Mohsan Alvi
- , Kirsty Ambridge
- , Daniel M. Barrett
- , Tanya Bayzetinova
- , Philip Jones
- , Wendy D. Jones
- , Daniel King
- , Netravathi Krishnappa
- , Laura E. Mason
- , Tarjinder Singh
- , Adrian R. Tivey
- , Munaza Ahmed
- , Uruj Anjum
- , Hayley Archer
- , Ruth Armstrong
- , Jana Awada
- , Meena Balasubramanian
- , Siddharth Banka
- , Diana Baralle
- , Angela Barnicoat
- , Paul Batstone
- , David Baty
- , Chris Bennett
- , Jonathan Berg
- , Birgitta Bernhard
- , A. Paul Bevan
- , Maria Bitner-Glindzicz
- , Edward Blair
- , Moira Blyth
- , David Bohanna
- , Louise Bourdon
- , David Bourn
- , Lisa Bradley
- , Angela Brady
- , Simon Brent
- , Carole Brewer
- , Kate Brunstrom
- , David J. Bunyan
- , John Burn
- , Natalie Canham
- , Bruce Castle
- , Kate Chandler
- , Elena Chatzimichali
- , Deirdre Cilliers
- , Angus Clarke
- , Susan Clasper
- , Jill Clayton-Smith
- , Virginia Clowes
- , Andrea Coates
- , Trevor Cole
- , Irina Colgiu
- , Amanda Collins
- , Morag N. Collinson
- , Fiona Connell
- , Nicola Cooper
- , Helen Cox
- , Lara Cresswell
- , Gareth Cross
- , Jill Clayton-Smith
- , Virginia Clowes
- , Andrea Coates
- , Trevor Cole
- , Irina Colgiu
- , Amanda Collins
- , Morag N. Collinson
- , Fiona Connell
- , Nicola Cooper
- , Helen Cox
- , Lara Cresswell
- , Gareth Cross
- , Yanick Crow
- , Mariella D’Alessandro
- , Tabib Dabir
- , Rosemarie Davidson
- , Sally Davies
- , Dylan de Vries
- , John Dean
- , Charu Deshpande
- , Gemma Devlin
- , Abhijit Dixit
- , Angus Dobbie
- , Alan Donaldson
- , Dian Donnai
- , Deirdre Donnelly
- , Carina Donnelly
- , Angela Douglas
- , Sofia Douzgou
- , Alexis Duncan
- , Jacqueline Eason
- , Sian Ellard
- , Ian Ellis
- , Frances Elmslie
- , Karenza Evans
- , Sarah Everest
- , Tina Fendick
- , Richard Fisher
- , Frances Flinter
- , Nicola Foulds
- , Andrew Fry
- , Alan Fryer
- , Carol Gardiner
- , Lorraine Gaunt
- , Neeti Ghali
- , Richard Gibbons
- , Harinder Gill
- , Judith Goodship
- , David Goudie
- , Emma Gray
- , Andrew Green
- , Philip Greene
- , Lynn Greenhalgh
- , Susan Gribble
- , Rachel Harrison
- , Lucy Harrison
- , Victoria Harrison
- , Rose Hawkins
- , Liu He
- , Stephen Hellens
- , Alex Henderson
- , Sarah Hewitt
- , Lucy Hildyard
- , Emma Hobson
- , Simon Holden
- , Muriel Holder
- , Susan Holder
- , Georgina Hollingsworth
- , Tessa Homfray
- , Mervyn Humphreys
- , Jane Hurst
- , Ben Hutton
- , Stuart Ingram
- , Melita Irving
- , Lily Islam
- , Andrew Jackson
- , Joanna Jarvis
- , Lucy Jenkins
- , Diana Johnson
- , Elizabeth Jones
- , Dragana Josifova
- , Shelagh Joss
- , Beckie Kaemba
- , Sandra Kazembe
- , Rosemary Kelsell
- , Bronwyn Kerr
- , Helen Kingston
- , Usha Kini
- , Esther Kinning
- , Gail Kirby
- , Claire Kirk
- , Emma Kivuva
- , Alison Kraus
- , Dhavendra Kumar
- , V. K. Ajith Kumar
- , Katherine Lachlan
- , Wayne Lam
- , Anne Lampe
- , Caroline Langman
- , Melissa Lees
- , Derek Lim
- , Cheryl Longman
- , Gordon Lowther
- , Sally A. Lynch
- , Alex Magee
- , Eddy Maher
- , Alison Male
- , Sahar Mansour
- , Karen Marks
- , Katherine Martin
- , Una Maye
- , Emma McCann
- , Vivienne McConnell
- , Meriel McEntagart
- , Ruth McGowan
- , Kirsten McKay
- , Shane McKee
- , Dominic J. McMullan
- , Susan McNerlan
- , Catherine McWilliam
- , Sarju Mehta
- , Kay Metcalfe
- , Anna Middleton
- , Zosia Miedzybrodzka
- , Emma Miles
- , Shehla Mohammed
- , Tara Montgomery
- , David Moore
- , Sian Morgan
- , Jenny Morton
- , Hood Mugalaasi
- , Victoria Murday
- , Helen Murphy
- , Swati Naik
- , Andrea Nemeth
- , Louise Nevitt
- , Andrew Norman
- , Rosie O’Shea
- , Caroline Ogilvie
- , Kai-Ren Ong
- , Soo-Mi Park
- , Michael J. Parker
- , Chirag Patel
- , Joan Paterson
- , Stewart Payne
- , Daniel Perrett
- , Julie Phipps
- , Daniela T. Pilz
- , Martin Pollard
- , Caroline Pottinger
- , Joanna Poulton
- , Norman Pratt
- , Katrina Prescott
- , Abigail Pridham
- , Annie Procter
- , Hellen Purnell
- , Oliver Quarrell
- , Nicola Ragge
- , Raheleh Rahbari
- , Josh Randall
- , Lucy Raymond
- , Debbie Rice
- , Leema Robert
- , Eileen Roberts
- , Jonathan Roberts
- , Paul Roberts
- , Gillian Roberts
- , Alison Ross
- , Elisabeth Rosser
- , Anand Saggar
- , Shalaka Samant
- , Julian Sampson
- , Richard Sandford
- , Ajoy Sarkar
- , Susann Schweiger
- , Richard Scott
- , Ingrid Scurr
- , Ann Selby
- , Anneke Seller
- , Cheryl Sequeira
- , Nora Shannon
- , Saba Sharif
- , Charles Shaw-Smith
- , Emma Shearing
- , Debbie Shears
- , Eamonn Sheridan
- , Ingrid Simonic
- , Roldan Singzon
- , Zara Skitt
- , Audrey Smith
- , Kath Smith
- , Sarah Smithson
- , Linda Sneddon
- , Miranda Splitt
- , Miranda Squires
- , Fiona Stewart
- , Helen Stewart
- , Volker Straub
- , Mohnish Suri
- , Vivienne Sutton
- , Ganesh Jawahar Swaminathan
- , Elizabeth Sweeney
- , Kate Tatton-Brown
- , Cat Taylor
- , Rohan Taylor
- , Mark Tein
- , I. Karen Temple
- , Jenny Thomson
- , Marc Tischkowitz
- , Susan Tomkins
- , Audrey Torokwa
- , Becky Treacy
- , Claire Turner
- , Peter Turnpenny
- , Carolyn Tysoe
- , Anthony Vandersteen
- , Vinod Varghese
- , Pradeep Vasudevan
- , Parthiban Vijayarangakannan
- , Julie Vogt
- , Emma Wakeling
- , Sarah Wallwark
- , Jonathon Waters
- , Astrid Weber
- , Diana Wellesley
- , Margo Whiteford
- , Sara Widaa
- , Sarah Wilcox
- , Emily Wilkinson
- , Denise Williams
- , Nicola Williams
- , Louise Wilson
- , Geoff Woods
- , Christopher Wragg
- , Michael Wright
- , Laura Yates
- , Michael Yau
- , Chris Nellåker
- , Michael Parker
- , Helen V. Firth
- , Caroline F. Wright
- , David R. FitzPatrick
- , Jeffrey C. Barrett
- , Matthew E. Hurles
- , John D. Roberts
- , Robert M. Petrovich
- , Shinichi Machida
- , Hitoshi Kurumizaka
- , Stefan Lelieveld
- , Rolph Pfundt
- , Sandra Jansen
- , Pelagia Deriziotis
- , Laurence Faivre
- , Julien Thevenon
- , Mirna Assoum
- , Lawrence Shriberg
- , Tjitske Kleefstra
- , Han G. Brunner
- , Paul A. Wade
- , Simon E. Fisher
- & Philippe M. Campeau
-
Research | | Open
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
- Lot Snijders Blok
- , Justine Rousseau
- , Joanna Twist
- , Sophie Ehresmann
- , Motoki Takaku
- , Hanka Venselaar
- , Lance H. Rodan
- , Catherine B. Nowak
- , Jessica Douglas
- , Kathryn J. Swoboda
- , Marcie A. Steeves
- , Inderneel Sahai
- , Connie T. R. M. Stumpel
- , Alexander P. A. Stegmann
- , Patricia Wheeler
- , Marcia Willing
- , Elise Fiala
- , Aaina Kochhar
- , William T. Gibson
- , Ana S. A. Cohen
- , Ruky Agbahovbe
- , A. Micheil Innes
- , P. Y. Billie Au
- , Julia Rankin
- , Ilse J. Anderson
- , Steven A. Skinner
- , Raymond J. Louie
- , Hannah E. Warren
- , Alexandra Afenjar
- , Boris Keren
- , Caroline Nava
- , Julien Buratti
- , Arnaud Isapof
- , Diana Rodriguez
- , Raymond Lewandowski
- , Jennifer Propst
- , Ton van Essen
- , Murim Choi
- , Sangmoon Lee
- , Jong H. Chae
- , Susan Price
- , Rhonda E. Schnur
- , Ganka Douglas
- , Ingrid M. Wentzensen
- , Christiane Zweier
- , André Reis
- , Martin G. Bialer
- , Christine Moore
- , Marije Koopmans
- , Eva H. Brilstra
- , Glen R. Monroe
- , Koen L. I. van Gassen
- , Ellen van Binsbergen
- , Ruth Newbury-Ecob
- , Lucy Bownass
- , Ingrid Bader
- , Johannes A. Mayr
- , Saskia B. Wortmann
- , Kathy J. Jakielski
- , Edythe A. Strand
- , Katja Kloth
- , Tatjana Bierhals
- , Jeremy F. McRae
- , Stephen Clayton
- , Tomas W. Fitzgerald
- , Joanna Kaplanis
- , Elena Prigmore
- , Diana Rajan
- , Alejandro Sifrim
- , Stuart Aitken
- , Nadia Akawi
- , Mohsan Alvi
- , Kirsty Ambridge
- , Daniel M. Barrett
- , Tanya Bayzetinova
- , Philip Jones
- , Wendy D. Jones
- , Daniel King
- , Netravathi Krishnappa
- , Laura E. Mason
- , Tarjinder Singh
- , Adrian R. Tivey
- , Munaza Ahmed
- , Uruj Anjum
- , Hayley Archer
- , Ruth Armstrong
- , Jana Awada
- , Meena Balasubramanian
- , Siddharth Banka
- , Diana Baralle
- , Angela Barnicoat
- , Paul Batstone
- , David Baty
- , Chris Bennett
- , Jonathan Berg
- , Birgitta Bernhard
- , A. Paul Bevan
- , Maria Bitner-Glindzicz
- , Edward Blair
- , Moira Blyth
- , David Bohanna
- , Louise Bourdon
- , David Bourn
- , Lisa Bradley
- , Angela Brady
- , Simon Brent
- , Carole Brewer
- , Kate Brunstrom
- , David J. Bunyan
- , John Burn
- , Natalie Canham
- , Bruce Castle
- , Kate Chandler
- , Elena Chatzimichali
- , Deirdre Cilliers
- , Angus Clarke
- , Susan Clasper
- , Jill Clayton-Smith
- , Virginia Clowes
- , Andrea Coates
- , Trevor Cole
- , Irina Colgiu
- , Amanda Collins
- , Morag N. Collinson
- , Fiona Connell
- , Nicola Cooper
- , Helen Cox
- , Lara Cresswell
- , Gareth Cross
- , Yanick Crow
- , Mariella D’Alessandro
- , Tabib Dabir
- , Rosemarie Davidson
- , Sally Davies
- , Dylan de Vries
- , John Dean
- , Charu Deshpande
- , Gemma Devlin
- , Abhijit Dixit
- , Angus Dobbie
- , Alan Donaldson
- , Dian Donnai
- , Deirdre Donnelly
- , Carina Donnelly
- , Angela Douglas
- , Sofia Douzgou
- , Alexis Duncan
- , Jacqueline Eason
- , Sian Ellard
- , Ian Ellis
- , Frances Elmslie
- , Karenza Evans
- , Sarah Everest
- , Tina Fendick
- , Richard Fisher
- , Frances Flinter
- , Nicola Foulds
- , Andrew Fry
- , Alan Fryer
- , Carol Gardiner
- , Lorraine Gaunt
- , Neeti Ghali
- , Richard Gibbons
- , Harinder Gill
- , Judith Goodship
- , David Goudie
- , Emma Gray
- , Andrew Green
- , Philip Greene
- , Lynn Greenhalgh
- , Susan Gribble
- , Rachel Harrison
- , Lucy Harrison
- , Victoria Harrison
- , Rose Hawkins
- , Liu He
- , Stephen Hellens
- , Alex Henderson
- , Sarah Hewitt
- , Lucy Hildyard
- , Emma Hobson
- , Simon Holden
- , Muriel Holder
- , Susan Holder
- , Georgina Hollingsworth
- , Tessa Homfray
- , Mervyn Humphreys
- , Jane Hurst
- , Ben Hutton
- , Stuart Ingram
- , Melita Irving
- , Lily Islam
- , Andrew Jackson
- , Joanna Jarvis
- , Lucy Jenkins
- , Diana Johnson
- , Elizabeth Jones
- , Dragana Josifova
- , Shelagh Joss
- , Beckie Kaemba
- , Sandra Kazembe
- , Rosemary Kelsell
- , Bronwyn Kerr
- , Helen Kingston
- , Usha Kini
- , Esther Kinning
- , Gail Kirby
- , Claire Kirk
- , Emma Kivuva
- , Alison Kraus
- , Dhavendra Kumar
- , V. K. Ajith Kumar
- , Katherine Lachlan
- , Wayne Lam
- , Anne Lampe
- , Caroline Langman
- , Melissa Lees
- , Derek Lim
- , Cheryl Longman
- , Gordon Lowther
- , Sally A. Lynch
- , Alex Magee
- , Eddy Maher
- , Alison Male
- , Sahar Mansour
- , Karen Marks
- , Katherine Martin
- , Una Maye
- , Emma McCann
- , Vivienne McConnell
- , Meriel McEntagart
- , Ruth McGowan
- , Kirsten McKay
- , Shane McKee
- , Dominic J. McMullan
- , Susan McNerlan
- , Catherine McWilliam
- , Sarju Mehta
- , Kay Metcalfe
- , Anna Middleton
- , Zosia Miedzybrodzka
- , Emma Miles
- , Shehla Mohammed
- , Tara Montgomery
- , David Moore
- , Sian Morgan
- , Jenny Morton
- , Hood Mugalaasi
- , Victoria Murday
- , Helen Murphy
- , Swati Naik
- , Andrea Nemeth
- , Louise Nevitt
- , Andrew Norman
- , Rosie O’Shea
- , Caroline Ogilvie
- , Kai-Ren Ong
- , Soo-Mi Park
- , Michael J. Parker
- , Chirag Patel
- , Joan Paterson
- , Stewart Payne
- , Daniel Perrett
- , Julie Phipps
- , Daniela T. Pilz
- , Martin Pollard
- , Caroline Pottinger
- , Joanna Poulton
- , Norman Pratt
- , Katrina Prescott
- , Abigail Pridham
- , Annie Procter
- , Hellen Purnell
- , Oliver Quarrell
- , Nicola Ragge
- , Raheleh Rahbari
- , Josh Randall
- , Lucy Raymond
- , Debbie Rice
- , Leema Robert
- , Eileen Roberts
- , Jonathan Roberts
- , Paul Roberts
- , Gillian Roberts
- , Alison Ross
- , Elisabeth Rosser
- , Anand Saggar
- , Shalaka Samant
- , Julian Sampson
- , Richard Sandford
- , Ajoy Sarkar
- , Susann Schweiger
- , Richard Scott
- , Ingrid Scurr
- , Ann Selby
- , Anneke Seller
- , Cheryl Sequeira
- , Nora Shannon
- , Saba Sharif
- , Charles Shaw-Smith
- , Emma Shearing
- , Debbie Shears
- , Eamonn Sheridan
- , Ingrid Simonic
- , Roldan Singzon
- , Zara Skitt
- , Audrey Smith
- , Kath Smith
- , Sarah Smithson
- , Linda Sneddon
- , Miranda Splitt
- , Miranda Squires
- , Fiona Stewart
- , Helen Stewart
- , Volker Straub
- , Mohnish Suri
- , Vivienne Sutton
- , Ganesh Jawahar Swaminathan
- , Elizabeth Sweeney
- , Kate Tatton-Brown
- , Cat Taylor
- , Rohan Taylor
- , Mark Tein
- , I. Karen Temple
- , Jenny Thomson
- , Marc Tischkowitz
- , Susan Tomkins
- , Audrey Torokwa
- , Becky Treacy
- , Claire Turner
- , Peter Turnpenny
- , Carolyn Tysoe
- , Anthony Vandersteen
- , Vinod Varghese
- , Pradeep Vasudevan
- , Parthiban Vijayarangakannan
- , Julie Vogt
- , Emma Wakeling
- , Sarah Wallwark
- , Jonathon Waters
- , Astrid Weber
- , Diana Wellesley
- , Margo Whiteford
- , Sara Widaa
- , Sarah Wilcox
- , Emily Wilkinson
- , Denise Williams
- , Nicola Williams
- , Louise Wilson
- , Geoff Woods
- , Christopher Wragg
- , Michael Wright
- , Laura Yates
- , Michael Yau
- , Chris Nellåker
- , Michael Parker
- , Helen V. Firth
- , Caroline F. Wright
- , David R. FitzPatrick
- , Jeffrey C. Barrett
- , Matthew E. Hurles
- , John D. Roberts
- , Robert M. Petrovich
- , Shinichi Machida
- , Hitoshi Kurumizaka
- , Stefan Lelieveld
- , Rolph Pfundt
- , Sandra Jansen
- , Pelagia Deriziotis
- , Laurence Faivre
- , Julien Thevenon
- , Mirna Assoum
- , Lawrence Shriberg
- , Tjitske Kleefstra
- , Han G. Brunner
- , Paul A. Wade
- , Simon E. Fisher
- & Philippe M. Campeau
-
Research |
Prevalence and architecture of de novo mutations in developmental disorders
- Jeremy F. McRae
- , Stephen Clayton
- , Tomas W. Fitzgerald
- , Joanna Kaplanis
- , Elena Prigmore
- , Diana Rajan
- , Alejandro Sifrim
- , Stuart Aitken
- , Nadia Akawi
- , Mohsan Alvi
- , Kirsty Ambridge
- , Daniel M. Barrett
- , Tanya Bayzetinova
- , Philip Jones
- , Wendy D. Jones
- , Daniel King
- , Netravathi Krishnappa
- , Laura E. Mason
- , Tarjinder Singh
- , Adrian R. Tivey
- , Munaza Ahmed
- , Uruj Anjum
- , Hayley Archer
- , Ruth Armstrong
- , Jana Awada
- , Meena Balasubramanian
- , Siddharth Banka
- , Diana Baralle
- , Angela Barnicoat
- , Paul Batstone
- , David Baty
- , Chris Bennett
- , Jonathan Berg
- , Birgitta Bernhard
- , A. Paul Bevan
- , Maria Bitner-Glindzicz
- , Edward Blair
- , Moira Blyth
- , David Bohanna
- , Louise Bourdon
- , David Bourn
- , Lisa Bradley
- , Angela Brady
- , Simon Brent
- , Carole Brewer
- , Kate Brunstrom
- , David J. Bunyan
- , John Burn
- , Natalie Canham
- , Bruce Castle
- , Kate Chandler
- , Elena Chatzimichali
- , Deirdre Cilliers
- , Angus Clarke
- , Susan Clasper
- , Jill Clayton-Smith
- , Virginia Clowes
- , Andrea Coates
- , Trevor Cole
- , Irina Colgiu
- , Amanda Collins
- , Morag N. Collinson
- , Fiona Connell
- , Nicola Cooper
- , Helen Cox
- , Lara Cresswell
- , Gareth Cross
- , Yanick Crow
- , Mariella D’Alessandro
- , Tabib Dabir
- , Rosemarie Davidson
- , Sally Davies
- , Dylan de Vries
- , John Dean
- , Charu Deshpande
- , Gemma Devlin
- , Abhijit Dixit
- , Angus Dobbie
- , Alan Donaldson
- , Dian Donnai
- , Deirdre Donnelly
- , Carina Donnelly
- , Angela Douglas
- , Sofia Douzgou
- , Alexis Duncan
- , Jacqueline Eason
- , Sian Ellard
- , Ian Ellis
- , Frances Elmslie
- , Karenza Evans
- , Sarah Everest
- , Tina Fendick
- , Richard Fisher
- , Frances Flinter
- , Nicola Foulds
- , Andrew Fry
- , Alan Fryer
- , Carol Gardiner
- , Lorraine Gaunt
- , Neeti Ghali
- , Richard Gibbons
- , Harinder Gill
- , Judith Goodship
- , David Goudie
- , Emma Gray
- , Andrew Green
- , Philip Greene
- , Lynn Greenhalgh
- , Susan Gribble
- , Rachel Harrison
- , Lucy Harrison
- , Victoria Harrison
- , Rose Hawkins
- , Liu He
- , Stephen Hellens
- , Alex Henderson
- , Sarah Hewitt
- , Lucy Hildyard
- , Emma Hobson
- , Simon Holden
- , Muriel Holder
- , Susan Holder
- , Georgina Hollingsworth
- , Tessa Homfray
- , Mervyn Humphreys
- , Jane Hurst
- , Ben Hutton
- , Stuart Ingram
- , Melita Irving
- , Lily Islam
- , Andrew Jackson
- , Joanna Jarvis
- , Lucy Jenkins
- , Diana Johnson
- , Elizabeth Jones
- , Dragana Josifova
- , Shelagh Joss
- , Beckie Kaemba
- , Sandra Kazembe
- , Rosemary Kelsell
- , Bronwyn Kerr
- , Helen Kingston
- , Usha Kini
- , Esther Kinning
- , Gail Kirby
- , Claire Kirk
- , Emma Kivuva
- , Alison Kraus
- , Dhavendra Kumar
- , V. K. Ajith Kumar
- , Katherine Lachlan
- , Wayne Lam
- , Anne Lampe
- , Caroline Langman
- , Melissa Lees
- , Derek Lim
- , Cheryl Longman
- , Gordon Lowther
- , Sally A. Lynch
- , Alex Magee
- , Eddy Maher
- , Alison Male
- , Sahar Mansour
- , Karen Marks
- , Katherine Martin
- , Una Maye
- , Emma McCann
- , Vivienne McConnell
- , Meriel McEntagart
- , Ruth McGowan
- , Kirsten McKay
- , Shane McKee
- , Dominic J. McMullan
- , Susan McNerlan
- , Catherine McWilliam
- , Sarju Mehta
- , Kay Metcalfe
- , Anna Middleton
- , Zosia Miedzybrodzka
- , Emma Miles
- , Shehla Mohammed
- , Tara Montgomery
- , David Moore
- , Sian Morgan
- , Jenny Morton
- , Hood Mugalaasi
- , Victoria Murday
- , Helen Murphy
- , Swati Naik
- , Andrea Nemeth
- , Louise Nevitt
- , Ruth Newbury-Ecob
- , Andrew Norman
- , Rosie O’Shea
- , Caroline Ogilvie
- , Kai-Ren Ong
- , Soo-Mi Park
- , Michael J. Parker
- , Chirag Patel
- , Joan Paterson
- , Stewart Payne
- , Daniel Perrett
- , Julie Phipps
- , Daniela T. Pilz
- , Martin Pollard
- , Caroline Pottinger
- , Joanna Poulton
- , Norman Pratt
- , Katrina Prescott
- , Sue Price
- , Abigail Pridham
- , Annie Procter
- , Hellen Purnell
- , Oliver Quarrell
- , Nicola Ragge
- , Raheleh Rahbari
- , Josh Randall
- , Julia Rankin
- , Lucy Raymond
- , Debbie Rice
- , Leema Robert
- , Eileen Roberts
- , Jonathan Roberts
- , Paul Roberts
- , Gillian Roberts
- , Alison Ross
- , Elisabeth Rosser
- , Anand Saggar
- , Shalaka Samant
- , Julian Sampson
- , Richard Sandford
- , Ajoy Sarkar
- , Susann Schweiger
- , Richard Scott
- , Ingrid Scurr
- , Ann Selby
- , Anneke Seller
- , Cheryl Sequeira
- , Nora Shannon
- , Saba Sharif
- , Charles Shaw-Smith
- , Emma Shearing
- , Debbie Shears
- , Eamonn Sheridan
- , Ingrid Simonic
- , Roldan Singzon
- , Zara Skitt
- , Audrey Smith
- , Kath Smith
- , Sarah Smithson
- , Linda Sneddon
- , Miranda Splitt
- , Miranda Squires
- , Fiona Stewart
- , Helen Stewart
- , Volker Straub
- , Mohnish Suri
- , Vivienne Sutton
- , Ganesh Jawahar Swaminathan
- , Elizabeth Sweeney
- , Kate Tatton-Brown
- , Cat Taylor
- , Rohan Taylor
- , Mark Tein
- , I. Karen Temple
- , Jenny Thomson
- , Marc Tischkowitz
- , Susan Tomkins
- , Audrey Torokwa
- , Becky Treacy
- , Claire Turner
- , Peter Turnpenny
- , Carolyn Tysoe
- , Anthony Vandersteen
- , Vinod Varghese
- , Pradeep Vasudevan
- , Parthiban Vijayarangakannan
- , Julie Vogt
- , Emma Wakeling
- , Sarah Wallwark
- , Jonathon Waters
- , Astrid Weber
- , Diana Wellesley
- , Margo Whiteford
- , Sara Widaa
- , Sarah Wilcox
- , Emily Wilkinson
- , Denise Williams
- , Nicola Williams
- , Louise Wilson
- , Geoff Woods
- , Christopher Wragg
- , Michael Wright
- , Laura Yates
- , Michael Yau
- , Chris Nellåker
- , Michael Parker
- , Helen V. Firth
- , Caroline F. Wright
- , David R. FitzPatrick
- , Jeffrey C. Barrett
- & Matthew E. Hurles
-
Research |
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
- Sébastien Jacquemont
- , Alexandre Reymond
- , Flore Zufferey
- , Louise Harewood
- , Robin G. Walters
- , Zoltán Kutalik
- , Danielle Martinet
- , Yiping Shen
- , Armand Valsesia
- , Noam D. Beckmann
- , Gudmar Thorleifsson
- , Marco Belfiore
- , Sonia Bouquillon
- , Dominique Campion
- , Nicole de Leeuw
- , Bert B. A. de Vries
- , Tõnu Esko
- , Bridget A. Fernandez
- , Fernando Fernández-Aranda
- , José Manuel Fernández-Real
- , Mònica Gratacòs
- , Audrey Guilmatre
- , Juliane Hoyer
- , Marjo-Riitta Jarvelin
- , R. Frank Kooy
- , Ants Kurg
- , Cédric Le Caignec
- , Katrin Männik
- , Orah S. Platt
- , Damien Sanlaville
- , Mieke M. Van Haelst
- , Sergi Villatoro Gomez
- , Faida Walha
- , Bai-lin Wu
- , Yongguo Yu
- , Azzedine Aboura
- , Marie-Claude Addor
- , Yves Alembik
- , Stylianos E. Antonarakis
- , Benoît Arveiler
- , Magalie Barth
- , Nathalie Bednarek
- , Frédérique Béna
- , Sven Bergmann
- , Mylène Beri
- , Laura Bernardini
- , Bettina Blaumeiser
- , Dominique Bonneau
- , Armand Bottani
- , Odile Boute
- , Han G. Brunner
- , Dorothée Cailley
- , Patrick Callier
- , Jean Chiesa
- , Jacqueline Chrast
- , Lachlan Coin
- , Charles Coutton
- , Jean-Marie Cuisset
- , Jean-Christophe Cuvellier
- , Albert David
- , Bénédicte de Freminville
- , Bruno Delobel
- , Marie-Ange Delrue
- , Bénédicte Demeer
- , Dominique Descamps
- , Gérard Didelot
- , Klaus Dieterich
- , Vittoria Disciglio
- , Martine Doco-Fenzy
- , Séverine Drunat
- , Bénédicte Duban-Bedu
- , Christèle Dubourg
- , Julia S. El-Sayed Moustafa
- , Paul Elliott
- , Brigitte H. W. Faas
- , Laurence Faivre
- , Anne Faudet
- , Florence Fellmann
- , Alessandra Ferrarini
- , Richard Fisher
- , Elisabeth Flori
- , Lukas Forer
- , Dominique Gaillard
- , Marion Gerard
- , Christian Gieger
- , Stefania Gimelli
- , Giorgio Gimelli
- , Hans J. Grabe
- , Agnès Guichet
- , Olivier Guillin
- , Anna-Liisa Hartikainen
- , Délphine Heron
- , Loyse Hippolyte
- , Muriel Holder
- , Georg Homuth
- , Bertrand Isidor
- , Sylvie Jaillard
- , Zdenek Jaros
- , Susana Jiménez-Murcia
- , Géraldine Joly Helas
- , Philippe Jonveaux
- , Satu Kaksonen
- , Boris Keren
- , Anita Kloss-Brandstätter
- , Nine V. A. M. Knoers
- , David A. Koolen
- , Peter M. Kroisel
- , Florian Kronenberg
- , Audrey Labalme
- , Emilie Landais
- , Elisabetta Lapi
- , Valérie Layet
- , Solenn Legallic
- , Bruno Leheup
- , Barbara Leube
- , Suzanne Lewis
- , Josette Lucas
- , Kay D. MacDermot
- , Pall Magnusson
- , Christian Marshall
- , Michèle Mathieu-Dramard
- , Mark I. McCarthy
- , Thomas Meitinger
- , Maria Antonietta Mencarelli
- , Giuseppe Merla
- , Alexandre Moerman
- , Vincent Mooser
- , Fanny Morice-Picard
- , Mafalda Mucciolo
- , Matthias Nauck
- , Ndeye Coumba Ndiaye
- , Ann Nordgren
- , Laurent Pasquier
- , Florence Petit
- , Rolph Pfundt
- , Ghislaine Plessis
- , Evica Rajcan-Separovic
- , Gian Paolo Ramelli
- , Anita Rauch
- , Roberto Ravazzolo
- , Andre Reis
- , Alessandra Renieri
- , Cristobal Richart
- , Janina S. Ried
- , Claudine Rieubland
- , Wendy Roberts
- , Katharina M. Roetzer
- , Caroline Rooryck
- , Massimiliano Rossi
- , Evald Saemundsen
- , Véronique Satre
- , Claudia Schurmann
- , Engilbert Sigurdsson
- , Dimitri J. Stavropoulos
- , Hreinn Stefansson
- , Carola Tengström
- , Unnur Thorsteinsdóttir
- , Francisco J. Tinahones
- , Renaud Touraine
- , Louis Vallée
- , Ellen van Binsbergen
- , Nathalie Van der Aa
- , Catherine Vincent-Delorme
- , Sophie Visvikis-Siest
- , Peter Vollenweider
- , Henry Völzke
- , Anneke T. Vulto-van Silfhout
- , Gérard Waeber
- , Carina Wallgren-Pettersson
- , Robert M. Witwicki
- , Simon Zwolinksi
- , Joris Andrieux
- , Xavier Estivill
- , James F. Gusella
- , Omar Gustafsson
- , Andres Metspalu
- , Stephen W. Scherer
- , Kari Stefansson
- , Alexandra I. F. Blakemore
- , Jacques S. Beckmann
- & Philippe Froguel
