Loading Filters
Showing 1–10 of 10 results
-
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
-
Amendments and Corrections | | Open
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
- Pleuntje J. van der Sluijs
- , Sandra Jansen
- , Samantha A. Vergano
- , Miho Adachi-Fukuda
- , Yasemin Alanay
- , Adila AlKindy
- , Anwar Baban
- , Allan Bayat
- , Stefanie Beck-Wödl
- , Katherine Berry
- , Emilia K. Bijlsma
- , Levinus A. Bok
- , Alwin F. J. Brouwer
- , Ineke van der Burgt
- , Philippe M. Campeau
- , Natalie Canham
- , Krystyna Chrzanowska
- , Yoyo W. Y. Chu
- , Brain H. Y. Chung
- , Karin Dahan
- , Marjan De Rademaeker
- , Anne Destree
- , Tracy Dudding-Byth
- , Rachel Earl
- , Nursel Elcioglu
- , Ellen R. Elias
- , Christina Fagerberg
- , Alice Gardham
- , Blanca Gener
- , Erica H. Gerkes
- , Ute Grasshoff
- , Arie van Haeringen
- , Karin R. Heitink
- , Johanna C. Herkert
- , Nicolette S. den Hollander
- , Denise Horn
- , David Hunt
- , Sarina G. Kant
- , Mitsuhiro Kato
- , Hülya Kayserili
- , Rogier Kersseboom
- , Esra Kilic
- , Malgorzata Krajewska-Walasek
- , Kylin Lammers
- , Lone W. Laulund
- , Damien Lederer
- , Melissa Lees
- , Vanesa López-González
- , Saskia Maas
- , Grazia M. S. Mancini
- , Carlo Marcelis
- , Francisco Martinez
- , Isabelle Maystadt
- , Marianne McGuire
- , Shane McKee
- , Sarju Mehta
- , Kay Metcalfe
- , Jeff Milunsky
- , Seiji Mizuno
- , John B. Moeschler
- , Christian Netzer
- , Charlotte W. Ockeloen
- , Barbara Oehl-Jaschkowitz
- , Nobuhiko Okamoto
- , Sharon N. M. Olminkhof
- , Carmen Orellana
- , Laurent Pasquier
- , Caroline Pottinger
- , Vera Riehmer
- , Stephen P. Robertson
- , Maian Roifman
- , Caroline Rooryck
- , Fabienne G. Ropers
- , Monica Rosello
- , Claudia A. L. Ruivenkamp
- , Mahmut S. Sagiroglu
- , Suzanne C. E. H. Sallevelt
- , Amparo Sanchis Calvo
- , Pelin O. Simsek-Kiper
- , Gabriela Soares
- , Lucia Solaeche
- , Fatma Mujgan Sonmez
- , Miranda Splitt
- , Duco Steenbeek
- , Alexander P. A. Stegmann
- , Constance T. R. M. Stumpel
- , Saori Tanabe
- , Eyyup Uctepe
- , G. Eda Utine
- , Hermine E. Veenstra-Knol
- , Sunita Venkateswaran
- , Catheline Vilain
- , Catherine Vincent-Delorme
- , Anneke T. Vulto-van Silfhout
- , Patricia Wheeler
- , Golder N. Wilson
- , Louise C. Wilson
- , Bernd Wollnik
- , Tomoki Kosho
- , Dagmar Wieczorek
- , Evan Eichler
- , Rolph Pfundt
- , Bert B. A. de Vries
- , Jill Clayton-Smith
- & Gijs W. E. Santen
-
Research | | Open
Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study
- Fabio Girardi
- , Daniel R Barnes
- , Daniel Barrowdale
- , Debra Frost
- , Angela F Brady
- , Claire Miller
- , Alex Henderson
- , Alan Donaldson
- , Alex Murray
- , Carole Brewer
- , Caroline Pottinger
- , D Gareth Evans
- , Diana Eccles
- , Fiona Lalloo
- , Helen Gregory
- , Jackie Cook
- , Jacqueline Eason
- , Julian Adlard
- , Julian Barwell
- , Kai Ren Ong
- , Lisa Walker
- , Louise Izatt
- , Lucy E Side
- , M John Kennedy
- , Marc Tischkowitz
- , Mark T Rogers
- , Mary E Porteous
- , Patrick J Morrison
- , Ros Eeles
- , Rosemarie Davidson
- , Katie Snape
- , Douglas F Easton
- & Antonis C Antoniou
-
Research |
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
- Clare V Logan
- , Barbara Lucke
- , Caroline Pottinger
- , Zakia A Abdelhamed
- , David A Parry
- , Katarzyna Szymanska
- , Christine P Diggle
- , Anne van Riesen
- , Joanne E Morgan
- , Grace Markham
- , Ian Ellis
- , Adnan Y Manzur
- , Alexander F Markham
- , Mike Shires
- , Tim Helliwell
- , Mariacristina Scoto
- , Christoph Hübner
- , David T Bonthron
- , Graham R Taylor
- , Eamonn Sheridan
- , Francesco Muntoni
- , Ian M Carr
- , Markus Schuelke
- & Colin A Johnson
-
Research |
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
- Laura Fachal
- , Hugues Aschard
- , Jonathan Beesley
- , Daniel R. Barnes
- , Jamie Allen
- , Siddhartha Kar
- , Karen A. Pooley
- , Joe Dennis
- , Kyriaki Michailidou
- , Constance Turman
- , Penny Soucy
- , Audrey Lemaçon
- , Michael Lush
- , Jonathan P. Tyrer
- , Maya Ghoussaini
- , Mahdi Moradi Marjaneh
- , Xia Jiang
- , Simona Agata
- , Kristiina Aittomäki
- , M. Rosario Alonso
- , Irene L. Andrulis
- , Hoda Anton-Culver
- , Natalia N. Antonenkova
- , Adalgeir Arason
- , Volker Arndt
- , Kristan J. Aronson
- , Banu K. Arun
- , Bernd Auber
- , Paul L. Auer
- , Jacopo Azzollini
- , Judith Balmaña
- , Rosa B. Barkardottir
- , Daniel Barrowdale
- , Alicia Beeghly-Fadiel
- , Javier Benitez
- , Marina Bermisheva
- , Katarzyna Białkowska
- , Amie M. Blanco
- , Carl Blomqvist
- , William Blot
- , Natalia V. Bogdanova
- , Stig E. Bojesen
- , Manjeet K. Bolla
- , Bernardo Bonanni
- , Ake Borg
- , Kristin Bosse
- , Hiltrud Brauch
- , Hermann Brenner
- , Ignacio Briceno
- , Ian W. Brock
- , Angela Brooks-Wilson
- , Thomas Brüning
- , Barbara Burwinkel
- , Saundra S. Buys
- , Qiuyin Cai
- , Trinidad Caldés
- , Maria A. Caligo
- , Nicola J. Camp
- , Ian Campbell
- , Federico Canzian
- , Jason S. Carroll
- , Brian D. Carter
- , Jose E. Castelao
- , Jocelyne Chiquette
- , Hans Christiansen
- , Wendy K. Chung
- , Kathleen B. M. Claes
- , Christine L. Clarke
- , Véronique Mari
- , Pascaline Berthet
- , Laurent Castera
- , Dominique Vaur
- , Hakima Lallaoui
- , Yves-Jean Bignon
- , Nancy Uhrhammer
- , Valérie Bonadona
- , Christine Lasset
- , Françoise Révillion
- , Paul Vennin
- , Daniele Muller
- , Denise Molina Gomes
- , Olivier Ingster
- , Isabelle Coupier
- , Pascal Pujol
- , Marie-Agnès Collonge-Rame
- , Isabelle Mortemousque
- , Odile Bera
- , Mickaelle Rose
- , Amandine Baurand
- , Geoffrey Bertolone
- , Laurence Faivre
- , Hélène Dreyfus
- , Dominique Leroux
- , Laurence Venat-Bouvet
- , Stéphane Bézieau
- , Capucine Delnatte
- , Jean Chiesa
- , Brigitte Gilbert-Dussardier
- , Paul Gesta
- , Fabienne Prieur Prieur
- , Myriam Bronner
- , Johanna Sokolowska
- , Florence Coulet
- , Nadia Boutry-Kryza
- , Alain Calender
- , Sophie Giraud
- , Mélanie Leone
- , Sandra Fert-Ferrer
- , Dominique Stoppa-Lyonnet
- , Yue Jiao
- , Fabienne Lesueur Lesueur
- , Noura Mebirouk
- , Emmanuelle Barouk-Simonet
- , Virginie Bubien
- , Michel Longy
- , Nicolas Sevenet
- , Laurence Gladieff
- , Christine Toulas
- , Audrey Reimineras
- , Hagay Sobol
- , Brigitte Bressac-de Paillerets
- , Odile Cabaret
- , Olivier Caron
- , Marine Guillaud-Bataille
- , Etienne Rouleau
- , Muriel Belotti
- , Bruno Buecher
- , Sandrine Caputo
- , Chrystelle Colas
- , Antoine De Pauw
- , Emmanuelle Fourme
- , Marion Gauthier-Villars
- , Lisa Golmard
- , Virginie Moncoutier
- , Claire Saule
- , Alan Donaldson
- , Alex Murray
- , Angela Brady
- , Carole Brewer
- , Caroline Pottinger
- , Clare Miller
- , David Gallagher
- , Helen Gregory
- , Jackie Cook
- , Jacqueline Eason
- , Julian Adlard
- , Julian Barwell
- , Kai-Ren Ong
- , Katie Snape
- , Lisa Walker
- , Louise Izatt
- , Lucy Side
- , Marc Tischkowitz
- , Mark T. Rogers
- , Mary E. Porteous
- , Munaza Ahmed
- , Patrick J. Morrison
- , Paul Brennan
- , Ros Eeles
- , Rosemarie Davidson
- , J. Margriet Collée
- , Sten Cornelissen
- , Fergus J. Couch
- , Angela Cox
- , Simon S. Cross
- , Cezary Cybulski
- , Kamila Czene
- , Mary B. Daly
- , Miguel de la Hoya
- , Peter Devilee
- , Orland Diez
- , Yuan Chun Ding
- , Gillian S. Dite
- , Susan M. Domchek
- , Thilo Dörk
- , Isabel dos-Santos-Silva
- , Arnaud Droit
- , Stéphane Dubois
- , Martine Dumont
- , Mercedes Duran
- , Lorraine Durcan
- , Miriam Dwek
- , Diana M. Eccles
- , Christoph Engel
- , Mikael Eriksson
- , D. Gareth Evans
- , Peter A. Fasching
- , Olivia Fletcher
- , Giuseppe Floris
- , Henrik Flyger
- , Lenka Foretova
- , William D. Foulkes
- , Eitan Friedman
- , Lin Fritschi
- , Debra Frost
- , Marike Gabrielson
- , Manuela Gago-Dominguez
- , Gaetana Gambino
- , Patricia A. Ganz
- , Susan M. Gapstur
- , Judy Garber
- , José A. García-Sáenz
- , Mia M. Gaudet
- , Vassilios Georgoulias
- , Graham G. Giles
- , Gord Glendon
- , Andrew K. Godwin
- , Mark S. Goldberg
- , David E. Goldgar
- , Anna González-Neira
- , Maria Grazia Tibiletti
- , Mark H. Greene
- , Mervi Grip
- , Jacek Gronwald
- , Anne Grundy
- , Pascal Guénel
- , Eric Hahnen
- , Christopher A. Haiman
- , Niclas Håkansson
- , Per Hall
- , Ute Hamann
- , Patricia A. Harrington
- , Jaana M. Hartikainen
- , Mikael Hartman
- , Wei He
- , Catherine S. Healey
- , Bernadette A. M. Heemskerk-Gerritsen
- , Jane Heyworth
- , Peter Hillemanns
- , Frans B. L. Hogervorst
- , Antoinette Hollestelle
- , Maartje J. Hooning
- , John L. Hopper
- , Anthony Howell
- , Guanmengqian Huang
- , Peter J. Hulick
- , Evgeny N. Imyanitov
- , Adrienne Sexton
- , Alice Christian
- , Alison Trainer
- , Allan Spigelman
- , Andrew Fellows
- , Andrew Shelling
- , Anna De Fazio
- , Anneke Blackburn
- , Ashley Crook
- , Bettina Meiser
- , Briony Patterson
- , Christine Clarke
- , Christobel Saunders
- , Clare Hunt
- , Clare Scott
- , David Amor
- , Deb Marsh
- , Edward Edkins
- , Elizabeth Salisbury
- , Eric Haan
- , Eveline Neidermayr
- , Finlay Macrea
- , Gelareh Farshid
- , Geoff Lindeman
- , Georgia Trench
- , Graham Mann
- , Graham Giles
- , Grantley Gill
- , Heather Thorne
- , Ian Campbell
- , Ian Hickie
- , Ingrid Winship
- , James Flanagan
- , James Kollias
- , Jane Visvader
- , Jennifer Stone
- , Jessica Taylor
- , Jo Burke
- , Jodi Saunus
- , John Forbes
- , John Hopper
- , Jonathan Beesley
- , Judy Kirk
- , Juliet French
- , Kathy Tucker
- , Kathy Wu
- , Kelly Phillips
- , Lara Lipton
- , Leslie Andrews
- , Lizz Lobb
- , Logan Walker
- , Maira Kentwell
- , Mandy Spurdle
- , Margaret Cummings
- , Margaret Gleeson
- , Marion Harris
- , Mark Jenkins
- , Mary Anne Young
- , Martin Delatycki
- , Mathew Wallis
- , Matthew Burgess
- , Melanie Price
- , Melissa Brown
- , Melissa Southey
- , Michael Bogwitz
- , Michael Field
- , Michael Friedlander
- , Michael Gattas
- , Mona Saleh
- , Nick Hayward
- , Nick Pachter
- , Paul Cohen
- , Pascal Duijf
- , Paul James
- , Pete Simpson
- , Peter Fong
- , Phyllis Butow
- , Rachael Williams
- , Rick Kefford
- , Rodney Scott
- , Roger Milne
- , Rosemary Balleine
- , Sarah–Jane Dawson
- , Sheau Lok
- , Shona O’Connell
- , Sian Greening
- , Sophie Nightingale
- , Stacey Edwards
- , Stephen Fox
- , Sue-Anne McLachlan
- , Sunil Lakhani
- , Yoland Antill
- , Cora Aalfs
- , Hanne Meijers-Heijboer
- , Klaartje van Engelen
- , Hans Gille
- , Ingrid Boere
- , Margriet Collée
- , Carolien van Deurzen
- , Maartje Hooning
- , Inge-Marie Obdeijn
- , Ans van den Ouweland
- , Caroline Seynaeve
- , Sabine Siesling
- , Janneke Verloop
- , Christi van Asperen
- , Peter Devilee
- , Twiggy van Cronenburg
- , Rien Blok
- , Maaike de Boer
- , Encarna Gómez Garcia
- , Muriel Adank
- , Frans Hogervorst
- , Denise Jenner
- , Flora van Leeuwen
- , Matti Rookus
- , Nicola Russell
- , Marjanka Schmidt
- , Sandra van den Belt-Dusebout
- , Carolien Kets
- , Arjen Mensenkamp
- , Truuske de Bock
- , Annemieke van der Hout
- , Marian Mourits
- , Jan Oosterwijk
- , Margreet Ausems
- , Marco Koudijs
- , Christine Clarke
- , Deborah Marsh
- , Rodney Scott
- , Robert Baxter
- , Desmond Yip
- , Jane Carpenter
- , Alison Davis
- , Nirmala Pathmanathan
- , Peter Simpson
- , Dinny Graham
- , Mythily Sachchithananthan
- , Claudine Isaacs
- , Motoki Iwasaki
- , Agnes Jager
- , Milena Jakimovska
- , Anna Jakubowska
- , Paul A. James
- , Ramunas Janavicius
- , Rachel C. Jankowitz
- , Esther M. John
- , Nichola Johnson
- , Michael E. Jones
- , Arja Jukkola-Vuorinen
- , Audrey Jung
- , Rudolf Kaaks
- , Daehee Kang
- , Pooja Middha Kapoor
- , Beth Y. Karlan
- , Renske Keeman
- , Michael J. Kerin
- , Elza Khusnutdinova
- , Johanna I. Kiiski
- , Judy Kirk
- , Cari M. Kitahara
- , Yon-Dschun Ko
- , Irene Konstantopoulou
- , Veli-Matti Kosma
- , Stella Koutros
- , Katerina Kubelka-Sabit
- , Ava Kwong
- , Kyriacos Kyriacou
- , Yael Laitman
- , Diether Lambrechts
- , Eunjung Lee
- , Goska Leslie
- , Jenny Lester
- , Fabienne Lesueur
- , Annika Lindblom
- , Wing-Yee Lo
- , Jirong Long
- , Artitaya Lophatananon
- , Jennifer T. Loud
- , Jan Lubiński
- , Robert J. MacInnis
- , Tom Maishman
- , Enes Makalic
- , Arto Mannermaa
- , Mehdi Manoochehri
- , Siranoush Manoukian
- , Sara Margolin
- , Maria Elena Martinez
- , Keitaro Matsuo
- , Tabea Maurer
- , Dimitrios Mavroudis
- , Rebecca Mayes
- , Lesley McGuffog
- , Catriona McLean
- , Noura Mebirouk
- , Alfons Meindl
- , Austin Miller
- , Nicola Miller
- , Marco Montagna
- , Fernando Moreno
- , Kenneth Muir
- , Anna Marie Mulligan
- , Victor M. Muñoz-Garzon
- , Taru A. Muranen
- , Steven A. Narod
- , Rami Nassir
- , Katherine L. Nathanson
- , Susan L. Neuhausen
- , Heli Nevanlinna
- , Patrick Neven
- , Finn C. Nielsen
- , Liene Nikitina-Zake
- , Aaron Norman
- , Kenneth Offit
- , Edith Olah
- , Olufunmilayo I. Olopade
- , Håkan Olsson
- , Nick Orr
- , Ana Osorio
- , V. Shane Pankratz
- , Janos Papp
- , Sue K. Park
- , Tjoung-Won Park-Simon
- , Michael T. Parsons
- , James Paul
- , Inge Sokilde Pedersen
- , Bernard Peissel
- , Beth Peshkin
- , Paolo Peterlongo
- , Julian Peto
- , Dijana Plaseska-Karanfilska
- , Karolina Prajzendanc
- , Ross Prentice
- , Nadege Presneau
- , Darya Prokofyeva
- , Miquel Angel Pujana
- , Katri Pylkäs
- , Paolo Radice
- , Susan J. Ramus
- , Johanna Rantala
- , Rohini Rau-Murthy
- , Gad Rennert
- , Harvey A. Risch
- , Mark Robson
- , Atocha Romero
- , Maria Rossing
- , Emmanouil Saloustros
- , Estela Sánchez-Herrero
- , Dale P. Sandler
- , Marta Santamariña
- , Christobel Saunders
- , Elinor J. Sawyer
- , Maren T. Scheuner
- , Daniel F. Schmidt
- , Rita K. Schmutzler
- , Andreas Schneeweiss
- , Minouk J. Schoemaker
- , Ben Schöttker
- , Peter Schürmann
- , Christopher Scott
- , Rodney J. Scott
- , Leigha Senter
- , Caroline M. Seynaeve
- , Mitul Shah
- , Priyanka Sharma
- , Chen-Yang Shen
- , Xiao-Ou Shu
- , Christian F. Singer
- , Thomas P. Slavin
- , Snezhana Smichkoska
- , Melissa C. Southey
- , John J. Spinelli
- , Amanda B. Spurdle
- , Jennifer Stone
- , Dominique Stoppa-Lyonnet
- , Christian Sutter
- , Anthony J. Swerdlow
- , Rulla M. Tamimi
- , Yen Yen Tan
- , William J. Tapper
- , Jack A. Taylor
- , Manuel R. Teixeira
- , Maria Tengström
- , Soo Hwang Teo
- , Mary Beth Terry
- , Alex Teulé
- , Mads Thomassen
- , Darcy L. Thull
- , Marc Tischkowitz
- , Amanda E. Toland
- , Rob A. E. M. Tollenaar
- , Ian Tomlinson
- , Diana Torres
- , Gabriela Torres-Mejía
- , Melissa A. Troester
- , Thérèse Truong
- , Nadine Tung
- , Maria Tzardi
- , Hans-Ulrich Ulmer
- , Celine M. Vachon
- , Christi J. van Asperen
- , Lizet E. van der Kolk
- , Elizabeth J. van Rensburg
- , Ana Vega
- , Alessandra Viel
- , Joseph Vijai
- , Maartje J. Vogel
- , Qin Wang
- , Barbara Wappenschmidt
- , Clarice R. Weinberg
- , Jeffrey N. Weitzel
- , Camilla Wendt
- , Hans Wildiers
- , Robert Winqvist
- , Alicja Wolk
- , Anna H. Wu
- , Drakoulis Yannoukakos
- , Yan Zhang
- , Wei Zheng
- , David Hunter
- , Paul D. P. Pharoah
- , Jenny Chang-Claude
- , Montserrat García-Closas
- , Marjanka K. Schmidt
- , Roger L. Milne
- , Vessela N. Kristensen
- , Juliet D. French
- , Stacey L. Edwards
- , Antonis C. Antoniou
- , Georgia Chenevix-Trench
- , Jacques Simard
- , Douglas F. Easton
- , Peter Kraft
- & Alison M. Dunning
-
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
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
- Pleuntje J. van der Sluijs
- , Sandra Jansen
- , Samantha A. Vergano
- , Miho Adachi-Fukuda
- , Yasemin Alanay
- , Adila AlKindy
- , Anwar Baban
- , Allan Bayat
- , Stefanie Beck-Wödl
- , Katherine Berry
- , Emilia K. Bijlsma
- , Levinus A. Bok
- , Alwin F. J. Brouwer
- , Ineke van der Burgt
- , Philippe M. Campeau
- , Natalie Canham
- , Krystyna Chrzanowska
- , Yoyo W. Y. Chu
- , Brain H. Y. Chung
- , Karin Dahan
- , Marjan De Rademaeker
- , Anne Destree
- , Tracy Dudding-Byth
- , Rachel Earl
- , Nursel Elcioglu
- , Ellen R. Elias
- , Christina Fagerberg
- , Alice Gardham
- , Blanca Gener
- , Erica H. Gerkes
- , Ute Grasshoff
- , Arie van Haeringen
- , Karin R. Heitink
- , Johanna C. Herkert
- , Nicolette S. den Hollander
- , Denise Horn
- , David Hunt
- , Sarina G. Kant
- , Mitsuhiro Kato
- , Hülya Kayserili
- , Rogier Kersseboom
- , Esra Kilic
- , Malgorzata Krajewska-Walasek
- , Kylin Lammers
- , Lone W. Laulund
- , Damien Lederer
- , Melissa Lees
- , Vanesa López-González
- , Saskia Maas
- , Grazia M. S. Mancini
- , Carlo Marcelis
- , Francisco Martinez
- , Isabelle Maystadt
- , Marianne McGuire
- , Shane McKee
- , Sarju Mehta
- , Kay Metcalfe
- , Jeff Milunsky
- , Seiji Mizuno
- , John B. Moeschler
- , Christian Netzer
- , Charlotte W. Ockeloen
- , Barbara Oehl-Jaschkowitz
- , Nobuhiko Okamoto
- , Sharon N. M. Olminkhof
- , Carmen Orellana
- , Laurent Pasquier
- , Caroline Pottinger
- , Vera Riehmer
- , Stephen P. Robertson
- , Maian Roifman
- , Caroline Rooryck
- , Fabienne G. Ropers
- , Monica Rosello
- , Claudia A. L. Ruivenkamp
- , Mahmut S. Sagiroglu
- , Suzanne C. E. H. Sallevelt
- , Amparo Sanchis Calvo
- , Pelin O. Simsek-Kiper
- , Gabriela Soares
- , Lucia Solaeche
- , Fatma Mujgan Sonmez
- , Miranda Splitt
- , Duco Steenbeek
- , Alexander P. A. Stegmann
- , Constance T. R. M. Stumpel
- , Saori Tanabe
- , Eyyup Uctepe
- , G. Eda Utine
- , Hermine E. Veenstra-Knol
- , Sunita Venkateswaran
- , Catheline Vilain
- , Catherine Vincent-Delorme
- , Anneke T. Vulto-van Silfhout
- , Patricia Wheeler
- , Golder N. Wilson
- , Louise C. Wilson
- , Bernd Wollnik
- , Tomoki Kosho
- , Dagmar Wieczorek
- , Evan Eichler
- , Rolph Pfundt
- , Bert B. A. de Vries
- , Jill Clayton-Smith
- & Gijs W. E. Santen
-
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
