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Showing 1–16 of 16 results
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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
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Amendments and Corrections |
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Amendments and Corrections |
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
- Karin Weiss
- , Hayley P. Lazar
- , Alina Kurolap
- , Ariel F. Martinez
- , Tamar Paperna
- , Lior Cohen
- , Marie F. Smeland
- , Sandra Whalen
- , Solveig Heide
- , Boris Keren
- , Pauline Terhal
- , Melita Irving
- , Motoki Takaku
- , John D. Roberts
- , Robert M. Petrovich
- , Samantha A. Schrier Vergano
- , Amy Kenney
- , Hanne Hove
- , Elizabeth DeChene
- , Shane C. Quinonez
- , Estelle Colin
- , Alban Ziegler
- , Melissa Rumple
- , Mahim Jain
- , Danielle Monteil
- , Elizabeth R. Roeder
- , Kimberly Nugent
- , Arie van Haeringen
- , Michael Gambello
- , Avni Santani
- , Līvija Medne
- , Bryan Krock
- , Cara M. Skraban
- , Elaine H. Zackai
- , Holly A. Dubbs
- , Thomas Smol
- , Jamal Ghoumid
- , Michael J. Parker
- , Michael Wright
- , Peter Turnpenny
- , Jill Clayton-Smith
- , Kay Metcalfe
- , Hitoshi Kurumizaka
- , Bruce D. Gelb
- , Hagit Baris Feldman
- , Philippe M. Campeau
- , Maximilian Muenke
- , Paul A. Wade
- & Katherine Lachlan
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Research |
Whole-genome sequencing of patients with rare diseases in a national health system
- Ernest Turro
- , William J. Astle
- , Karyn Megy
- , Stefan Gräf
- , Daniel Greene
- , Olga Shamardina
- , Hana Lango Allen
- , Alba Sanchis-Juan
- , Mattia Frontini
- , Chantal Thys
- , Jonathan Stephens
- , Rutendo Mapeta
- , Oliver S. Burren
- , Kate Downes
- , Matthias Haimel
- , Salih Tuna
- , Sri V. V. Deevi
- , Timothy J. Aitman
- , David L. Bennett
- , Paul Calleja
- , Keren Carss
- , Mark J. Caulfield
- , Patrick F. Chinnery
- , Peter H. Dixon
- , Daniel P. Gale
- , Roger James
- , Ania Koziell
- , Michael A. Laffan
- , Adam P. Levine
- , Eamonn R. Maher
- , Hugh S. Markus
- , Joannella Morales
- , Nicholas W. Morrell
- , Andrew D. Mumford
- , Elizabeth Ormondroyd
- , Stuart Rankin
- , Augusto Rendon
- , Sylvia Richardson
- , Irene Roberts
- , Noemi B. A. Roy
- , Moin A. Saleem
- , Kenneth G. C. Smith
- , Hannah Stark
- , Rhea Y. Y. Tan
- , Andreas C. Themistocleous
- , Adrian J. Thrasher
- , Hugh Watkins
- , Andrew R. Webster
- , Martin R. Wilkins
- , Catherine Williamson
- , James Whitworth
- , Sean Humphray
- , David R. Bentley
- , Stephen Abbs
- , Lara Abulhoul
- , Julian Adlard
- , Munaza Ahmed
- , Timothy J. Aitman
- , Hana Alachkar
- , David J. Allsup
- , Jeff Almeida-King
- , Philip Ancliff
- , Richard Antrobus
- , Ruth Armstrong
- , Gavin Arno
- , Sofie Ashford
- , William J. Astle
- , Anthony Attwood
- , Paul Aurora
- , Christian Babbs
- , Chiara Bacchelli
- , Tamam Bakchoul
- , Siddharth Banka
- , Tadbir Bariana
- , Julian Barwell
- , Joana Batista
- , Helen E. Baxendale
- , Phil L. Beales
- , David L. Bennett
- , David R. Bentley
- , Agnieszka Bierzynska
- , Tina Biss
- , Maria A. K. Bitner-Glindzicz
- , Graeme C. Black
- , Marta Bleda
- , Iulia Blesneac
- , Detlef Bockenhauer
- , Harm Bogaard
- , Christian J. Bourne
- , Sara Boyce
- , John R. Bradley
- , Eugene Bragin
- , Gerome Breen
- , Paul Brennan
- , Carole Brewer
- , Matthew Brown
- , Andrew C. Browning
- , Michael J. Browning
- , Rachel J. Buchan
- , Matthew S. Buckland
- , Teofila Bueser
- , Carmen Bugarin Diz
- , John Burn
- , Siobhan O. Burns
- , Oliver S. Burren
- , Nigel Burrows
- , Paul Calleja
- , Carolyn Campbell
- , Gerald Carr-White
- , Keren Carss
- , Ruth Casey
- , Mark J. Caulfield
- , Jenny Chambers
- , John Chambers
- , Melanie M. Y. Chan
- , Calvin Cheah
- , Floria Cheng
- , Patrick F. Chinnery
- , Manali Chitre
- , Martin T. Christian
- , Colin Church
- , Jill Clayton-Smith
- , Maureen Cleary
- , Naomi Clements Brod
- , Gerry Coghlan
- , Elizabeth Colby
- , Trevor R. P. Cole
- , Janine Collins
- , Peter W. Collins
- , Camilla Colombo
- , Cecilia J. Compton
- , Robin Condliffe
- , Stuart Cook
- , H. Terence Cook
- , Nichola Cooper
- , Paul A. Corris
- , Abigail Furnell
- , Fiona Cunningham
- , Nicola S. Curry
- , Antony J. Cutler
- , Matthew J. Daniels
- , Mehul Dattani
- , Louise C. Daugherty
- , John Davis
- , Anthony De Soyza
- , Sri V. V. Deevi
- , Timothy Dent
- , Charu Deshpande
- , Eleanor F. Dewhurst
- , Peter H. Dixon
- , Sofia Douzgou
- , Kate Downes
- , Anna M. Drazyk
- , Elizabeth Drewe
- , Daniel Duarte
- , Tina Dutt
- , J. David M. Edgar
- , Karen Edwards
- , William Egner
- , Melanie N. Ekani
- , Perry Elliott
- , Wendy N. Erber
- , Marie Erwood
- , Maria C. Estiu
- , Dafydd Gareth Evans
- , Gillian Evans
- , Tamara Everington
- , Mélanie Eyries
- , Hiva Fassihi
- , Remi Favier
- , Jack Findhammer
- , Debra Fletcher
- , Frances A. Flinter
- , R. Andres Floto
- , Tom Fowler
- , James Fox
- , Amy J. Frary
- , Courtney E. French
- , Kathleen Freson
- , Mattia Frontini
- , Daniel P. Gale
- , Henning Gall
- , Vijeya Ganesan
- , Michael Gattens
- , Claire Geoghegan
- , Terence S. A. Gerighty
- , Ali G. Gharavi
- , Stefano Ghio
- , Hossein-Ardeschir Ghofrani
- , J. Simon R. Gibbs
- , Kate Gibson
- , Kimberly C. Gilmour
- , Barbara Girerd
- , Nicholas S. Gleadall
- , Sarah Goddard
- , David B. Goldstein
- , Keith Gomez
- , Pavels Gordins
- , David Gosal
- , Stefan Gräf
- , Jodie Graham
- , Luigi Grassi
- , Daniel Greene
- , Lynn Greenhalgh
- , Andreas Greinacher
- , Paolo Gresele
- , Philip Griffiths
- , Sofia Grigoriadou
- , Russell J. Grocock
- , Detelina Grozeva
- , Mark Gurnell
- , Scott Hackett
- , Charaka Hadinnapola
- , William M. Hague
- , Rosie Hague
- , Matthias Haimel
- , Matthew Hall
- , Helen L. Hanson
- , Eshika Haque
- , Kirsty Harkness
- , Andrew R. Harper
- , Claire L. Harris
- , Daniel Hart
- , Ahamad Hassan
- , Grant Hayman
- , Alex Henderson
- , Archana Herwadkar
- , Jonathan Hoffman
- , Simon Holden
- , Rita Horvath
- , Henry Houlden
- , Arjan C. Houweling
- , Luke S. Howard
- , Fengyuan Hu
- , Gavin Hudson
- , Joseph Hughes
- , Aarnoud P. Huissoon
- , Marc Humbert
- , Sean Humphray
- , Sarah Hunter
- , Matthew Hurles
- , Melita Irving
- , Louise Izatt
- , Roger James
- , Sally A. Johnson
- , Stephen Jolles
- , Jennifer Jolley
- , Dragana Josifova
- , Neringa Jurkute
- , Tim Karten
- , Johannes Karten
- , Mary A. Kasanicki
- , Hanadi Kazkaz
- , Rashid Kazmi
- , Peter Kelleher
- , Anne M. Kelly
- , Wilf Kelsall
- , Carly Kempster
- , David G. Kiely
- , Nathalie Kingston
- , Robert Klima
- , Nils Koelling
- , Myrto Kostadima
- , Gabor Kovacs
- , Ania Koziell
- , Roman Kreuzhuber
- , Taco W. Kuijpers
- , Ajith Kumar
- , Dinakantha Kumararatne
- , Manju A. Kurian
- , Michael A. Laffan
- , Fiona Lalloo
- , Michele Lambert
- , Hana Lango Allen
- , Allan Lawrie
- , D. Mark Layton
- , Nick Lench
- , Claire Lentaigne
- , Tracy Lester
- , Adam P. Levine
- , Rachel Linger
- , Hilary Longhurst
- , Lorena E. Lorenzo
- , Eleni Louka
- , Paul A. Lyons
- , Rajiv D. Machado
- , Robert V. MacKenzie Ross
- , Bella Madan
- , Eamonn R. Maher
- , Jesmeen Maimaris
- , Samantha Malka
- , Sarah Mangles
- , Rutendo Mapeta
- , Kevin J. Marchbank
- , Stephen Marks
- , Hugh S. Markus
- , Hanns-Ulrich Marschall
- , Andrew Marshall
- , Jennifer Martin
- , Mary Mathias
- , Emma Matthews
- , Heather Maxwell
- , Paul McAlinden
- , Mark I. McCarthy
- , Harriet McKinney
- , Aoife McMahon
- , Stuart Meacham
- , Adam J. Mead
- , Ignacio Medina Castello
- , Karyn Megy
- , Sarju G. Mehta
- , Michel Michaelides
- , Carolyn Millar
- , Shehla N. Mohammed
- , Shahin Moledina
- , David Montani
- , Anthony T. Moore
- , Joannella Morales
- , Nicholas W. Morrell
- , Monika Mozere
- , Keith W. Muir
- , Andrew D. Mumford
- , Andrea H. Nemeth
- , William G. Newman
- , Michael Newnham
- , Sadia Noorani
- , Paquita Nurden
- , Jennifer O’Sullivan
- , Samya Obaji
- , Chris Odhams
- , Steven Okoli
- , Andrea Olschewski
- , Horst Olschewski
- , Kai Ren Ong
- , S. Helen Oram
- , Elizabeth Ormondroyd
- , Willem H. Ouwehand
- , Claire Palles
- , Sofia Papadia
- , Soo-Mi Park
- , David Parry
- , Smita Patel
- , Joan Paterson
- , Andrew Peacock
- , Simon H. Pearce
- , John Peden
- , Kathelijne Peerlinck
- , Christopher J. Penkett
- , Joanna Pepke-Zaba
- , Romina Petersen
- , Clarissa Pilkington
- , Kenneth E. S. Poole
- , Radhika Prathalingam
- , Bethan Psaila
- , Angela Pyle
- , Richard Quinton
- , Shamima Rahman
- , Stuart Rankin
- , Anupama Rao
- , F. Lucy Raymond
- , Paula J. Rayner-Matthews
- , Christine Rees
- , Augusto Rendon
- , Tara Renton
- , Christopher J. Rhodes
- , Andrew S. C. Rice
- , Sylvia Richardson
- , Alex Richter
- , Leema Robert
- , Irene Roberts
- , Anthony Rogers
- , Sarah J. Rose
- , Robert Ross-Russell
- , Catherine Roughley
- , Noemi B. A. Roy
- , Deborah M. Ruddy
- , Omid Sadeghi-Alavijeh
- , Moin A. Saleem
- , Nilesh Samani
- , Crina Samarghitean
- , Alba Sanchis-Juan
- , Ravishankar B. Sargur
- , Robert N. Sarkany
- , Simon Satchell
- , Sinisa Savic
- , John A. Sayer
- , Genevieve Sayer
- , Laura Scelsi
- , Andrew M. Schaefer
- , Sol Schulman
- , Richard Scott
- , Marie Scully
- , Claire Searle
- , Werner Seeger
- , Arjune Sen
- , W. A. Carrock Sewell
- , Denis Seyres
- , Neil Shah
- , Olga Shamardina
- , Susan E. Shapiro
- , Adam C. Shaw
- , Patrick J. Short
- , Keith Sibson
- , Lucy Side
- , Ilenia Simeoni
- , Michael A. Simpson
- , Matthew C. Sims
- , Suthesh Sivapalaratnam
- , Damian Smedley
- , Katherine R. Smith
- , Kenneth G. C. Smith
- , Katie Snape
- , Nicole Soranzo
- , Florent Soubrier
- , Laura Southgate
- , Olivera Spasic-Boskovic
- , Simon Staines
- , Emily Staples
- , Hannah Stark
- , Jonathan Stephens
- , Charles Steward
- , Kathleen E. Stirrups
- , Alex Stuckey
- , Jay Suntharalingam
- , Emilia M. Swietlik
- , Petros Syrris
- , R. Campbell Tait
- , Kate Talks
- , Rhea Y. Y. Tan
- , Katie Tate
- , John M. Taylor
- , Jenny C. Taylor
- , James E. Thaventhiran
- , Andreas C. Themistocleous
- , Ellen Thomas
- , David Thomas
- , Moira J. Thomas
- , Patrick Thomas
- , Kate Thomson
- , Adrian J. Thrasher
- , Glen Threadgold
- , Chantal Thys
- , Tobias Tilly
- , Marc Tischkowitz
- , Catherine Titterton
- , John A. Todd
- , Cheng-Hock Toh
- , Bas Tolhuis
- , Ian P. Tomlinson
- , Mark Toshner
- , Matthew Traylor
- , Carmen Treacy
- , Paul Treadaway
- , Richard Trembath
- , Salih Tuna
- , Wojciech Turek
- , Ernest Turro
- , Philip Twiss
- , Tom Vale
- , Chris Van Geet
- , Natalie van Zuydam
- , Maarten Vandekuilen
- , Anthony M. Vandersteen
- , Marta Vazquez-Lopez
- , Julie von Ziegenweidt
- , Anton Vonk Noordegraaf
- , Annette Wagner
- , Quinten Waisfisz
- , Suellen M. Walker
- , Neil Walker
- , Klaudia Walter
- , James S. Ware
- , Hugh Watkins
- , Christopher Watt
- , Andrew R. Webster
- , Lucy Wedderburn
- , Wei Wei
- , Steven B. Welch
- , Julie Wessels
- , Sarah K. Westbury
- , John-Paul Westwood
- , John Wharton
- , Deborah Whitehorn
- , James Whitworth
- , Andrew O. M. Wilkie
- , Martin R. Wilkins
- , Catherine Williamson
- , Brian T. Wilson
- , Edwin K. S. Wong
- , Nicholas Wood
- , Yvette Wood
- , Christopher Geoffrey Woods
- , Emma R. Woodward
- , Stephen J. Wort
- , Austen Worth
- , Michael Wright
- , Katherine Yates
- , Patrick F. K. Yong
- , Timothy Young
- , Ping Yu
- , Patrick Yu-Wai-Man
- , Eliska Zlamalova
- , Nathalie Kingston
- , Neil Walker
- , John R. Bradley
- , Sofie Ashford
- , Christopher J. Penkett
- , Kathleen Freson
- , Kathleen E. Stirrups
- , F. Lucy Raymond
- & Willem H. Ouwehand
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Research |
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Research |
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Research |
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Research |
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Research |
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
- Karin Weiss
- , Hayley P. Lazar
- , Alina Kurolap
- , Ariel F. Martinez
- , Tamar Paperna
- , Lior Cohen
- , Marie F. Smeland
- , Sandra Whalen
- , Solveig Heide
- , Boris Keren
- , Pauline Terhal
- , Melita Irving
- , Motoki Takaku
- , John D. Roberts
- , Robert M. Petrovich
- , Samantha A. Schrier Vergano
- , Amy Kenney
- , Hanne Hove
- , Elizabeth DeChene
- , Shane C. Quinonez
- , Estelle Colin
- , Alban Ziegler
- , Melissa Rumple
- , Mahim Jain
- , Danielle Monteil
- , Elizabeth R. Roeder
- , Kimberly Nugent
- , Arie van Haeringen
- , Michael Gambello
- , Avni Santani
- , Līvija Medne
- , Bryan Krock
- , Cara M. Skraban
- , Elaine H. Zackai
- , Holly A. Dubbs
- , Thomas Smol
- , Jamal Ghoumid
- , Michael J. Parker
- , Michael Wright
- , Peter Turnpenny
- , Jill Clayton-Smith
- , Kay Metcalfe
- , Hitoshi Kurumizaka
- , Bruce D. Gelb
- , Hagit Baris Feldman
- , Philippe M. Campeau
- , Maximilian Muenke
- , Paul A. Wade
- & Katherine Lachlan
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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 |
-
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 |
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
- Claire Redin
- , Harrison Brand
- , Ryan L Collins
- , Tammy Kammin
- , Elyse Mitchell
- , Jennelle C Hodge
- , Carrie Hanscom
- , Vamsee Pillalamarri
- , Catarina M Seabra
- , Mary-Alice Abbott
- , Omar A Abdul-Rahman
- , Erika Aberg
- , Rhett Adley
- , Sofia L Alcaraz-Estrada
- , Fowzan S Alkuraya
- , Yu An
- , Mary-Anne Anderson
- , Caroline Antolik
- , Kwame Anyane-Yeboa
- , Joan F Atkin
- , Tina Bartell
- , Jonathan A Bernstein
- , Elizabeth Beyer
- , Ian Blumenthal
- , Ernie M H F Bongers
- , Eva H Brilstra
- , Chester W Brown
- , Hennie T Brüggenwirth
- , Bert Callewaert
- , Colby Chiang
- , Ken Corning
- , Helen Cox
- , Edwin Cuppen
- , Benjamin B Currall
- , Tom Cushing
- , Dezso David
- , Matthew A Deardorff
- , Annelies Dheedene
- , Marc D'Hooghe
- , Bert B A de Vries
- , Dawn L Earl
- , Heather L Ferguson
- , Heather Fisher
- , David R FitzPatrick
- , Pamela Gerrol
- , Daniela Giachino
- , Joseph T Glessner
- , Troy Gliem
- , Margo Grady
- , Brett H Graham
- , Cristin Griffis
- , Karen W Gripp
- , Andrea L Gropman
- , Andrea Hanson-Kahn
- , David J Harris
- , Mark A Hayden
- , Rosamund Hill
- , Ron Hochstenbach
- , Jodi D Hoffman
- , Robert J Hopkin
- , Monika W Hubshman
- , A Micheil Innes
- , Mira Irons
- , Melita Irving
- , Jessie C Jacobsen
- , Sandra Janssens
- , Tamison Jewett
- , John P Johnson
- , Marjolijn C Jongmans
- , Stephen G Kahler
- , David A Koolen
- , Jerome Korzelius
- , Peter M Kroisel
- , Yves Lacassie
- , William Lawless
- , Emmanuelle Lemyre
- , Kathleen Leppig
- , Alex V Levin
- , Haibo Li
- , Hong Li
- , Eric C Liao
- , Cynthia Lim
- , Edward J Lose
- , Diane Lucente
- , Michael J Macera
- , Poornima Manavalan
- , Giorgia Mandrile
- , Carlo L Marcelis
- , Lauren Margolin
- , Tamara Mason
- , Diane Masser-Frye
- , Michael W McClellan
- , Cinthya J Zepeda Mendoza
- , Björn Menten
- , Sjors Middelkamp
- , Liya R Mikami
- , Emily Moe
- , Shehla Mohammed
- , Tarja Mononen
- , Megan E Mortenson
- , Graciela Moya
- , Aggie W Nieuwint
- , Zehra Ordulu
- , Sandhya Parkash
- , Susan P Pauker
- , Shahrin Pereira
- , Danielle Perrin
- , Katy Phelan
- , Raul E Piña Aguilar
- , Pino J Poddighe
- , Giulia Pregno
- , Salmo Raskin
- , Linda Reis
- , William Rhead
- , Debra Rita
- , Ivo Renkens
- , Filip Roelens
- , Jayla Ruliera
- , Patrick Rump
- , Samantha L P Schilit
- , Ranad Shaheen
- , Rebecca Sparkes
- , Erica Spiegel
- , Blair Stevens
- , Matthew R Stone
- , Julia Tagoe
- , Joseph V Thakuria
- , Bregje W van Bon
- , Jiddeke van de Kamp
- , Ineke van Der Burgt
- , Ton van Essen
- , Conny M van Ravenswaaij-Arts
- , Markus J van Roosmalen
- , Sarah Vergult
- , Catharina M L Volker-Touw
- , Dorothy P Warburton
- , Matthew J Waterman
- , Susan Wiley
- , Anna Wilson
- , Maria de la Concepcion A Yerena-de Vega
- , Roberto T Zori
- , Brynn Levy
- , Han G Brunner
- , Nicole de Leeuw
- , Wigard P Kloosterman
- , Erik C Thorland
- , Cynthia C Morton
- , James F Gusella
- & Michael E Talkowski
