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Showing 1–42 of 42 results
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Research | | Open
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
- Meena Balasubramanian
- , Alexander J. M. Dingemans
- , Shadi Albaba
- , Ruth Richardson
- , Thabo M. Yates
- , Helen Cox
- , Sofia Douzgou
- , Ruth Armstrong
- , Francis H. Sansbury
- , Katherine B. Burke
- , Andrew E. Fry
- , Nicola Ragge
- , Saba Sharif
- , Alison Foster
- , Annachiara De Sandre-Giovannoli
- , Sahar Elouej
- , Pradeep Vasudevan
- , Sahar Mansour
- , Kate Wilson
- , Helen Stewart
- , Solveig Heide
- , Caroline Nava
- , Boris Keren
- , Serwet Demirdas
- , Alice S. Brooks
- , Marie Vincent
- , Bertrand Isidor
- , Sebastien Küry
- , Meyke Schouten
- , Erika Leenders
- , Wendy K. Chung
- , Arie van Haeringen
- , Thomas Scheffner
- , Francois-Guillaume Debray
- , Susan M. White
- , Maria Irene Valenzuela Palafoll
- , Rolph Pfundt
- , Ruth Newbury-Ecob
- & Tjitske Kleefstra
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Research | | Open
Missense variant contribution to USP9X-female syndrome
- Lachlan A. Jolly
- , Euan Parnell
- , Alison E. Gardner
- , Mark A. Corbett
- , Luis A. Pérez-Jurado
- , Marie Shaw
- , Gaetan Lesca
- , Catherine Keegan
- , Michael C. Schneider
- , Emily Griffin
- , Felicitas Maier
- , Courtney Kiss
- , Andrea Guerin
- , Kathleen Crosby
- , Kenneth Rosenbaum
- , Pranoot Tanpaiboon
- , Sandra Whalen
- , Boris Keren
- , Julie McCarrier
- , Donald Basel
- , Simon Sadedin
- , Susan M. White
- , Martin B. Delatycki
- , Tjitske Kleefstra
- , Sébastien Küry
- , Alfredo Brusco
- , Elena Sukarova-Angelovska
- , Slavica Trajkova
- , Sehoun Yoon
- , Stephen A. Wood
- , Michael Piper
- , Peter Penzes
- & Jozef Gecz
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Research | | Open
Germline AGO2 mutations impair RNA interference and human neurological development
- Davor Lessel
- , Daniela M. Zeitler
- , Margot R. F. Reijnders
- , Andriy Kazantsev
- , Fatemeh Hassani Nia
- , Alexander Bartholomäus
- , Victoria Martens
- , Astrid Bruckmann
- , Veronika Graus
- , Allyn McConkie-Rosell
- , Marie McDonald
- , Bernarda Lozic
- , Ee-Shien Tan
- , Erica Gerkes
- , Jessika Johannsen
- , Jonas Denecke
- , Aida Telegrafi
- , Evelien Zonneveld-Huijssoon
- , Henny H. Lemmink
- , Breana W. M. Cham
- , Tanja Kovacevic
- , Linda Ramsdell
- , Kimberly Foss
- , Diana Le Duc
- , Diana Mitter
- , Steffen Syrbe
- , Andreas Merkenschlager
- , Margje Sinnema
- , Bianca Panis
- , Joanna Lazier
- , Matthew Osmond
- , Taila Hartley
- , Jeremie Mortreux
- , Tiffany Busa
- , Chantal Missirian
- , Pankaj Prasun
- , Sabine Lüttgen
- , Ilaria Mannucci
- , Ivana Lessel
- , Claudia Schob
- , Stefan Kindler
- , John Pappas
- , Rachel Rabin
- , Marjolein Willemsen
- , Thatjana Gardeitchik
- , Katharina Löhner
- , Patrick Rump
- , Kerith-Rae Dias
- , Carey-Anne Evans
- , Peter Ian Andrews
- , Tony Roscioli
- , Han G. Brunner
- , Chieko Chijiwa
- , M. E. Suzanne Lewis
- , Rami Abou Jamra
- , David A. Dyment
- , Kym M. Boycott
- , Alexander P. A. Stegmann
- , Christian Kubisch
- , Ene-Choo Tan
- , Ghayda M. Mirzaa
- , Kirsty McWalter
- , Tjitske Kleefstra
- , Rolph Pfundt
- , Zoya Ignatova
- , Gunter Meister
- & Hans-Jürgen Kreienkamp
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Research | | Open
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Research |
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Research |
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
- Joost Kummeling
- , Diante E. Stremmelaar
- , Nicholas Raun
- , Margot R. F. Reijnders
- , Marjolein H. Willemsen
- , Martina Ruiterkamp-Versteeg
- , Marga Schepens
- , Calvin C. O. Man
- , Christian Gilissen
- , Megan T. Cho
- , Kirsty McWalter
- , Margje Sinnema
- , James W. Wheless
- , Marleen E. H. Simon
- , Casie A. Genetti
- , Alicia M. Casey
- , Paulien A. Terhal
- , Jasper J. van der Smagt
- , Koen L. I. van Gassen
- , Pascal Joset
- , Angela Bahr
- , Katharina Steindl
- , Anita Rauch
- , Elmar Keller
- , Annick Raas-Rothschild
- , David A. Koolen
- , Pankaj B. Agrawal
- , Trevor L. Hoffman
- , Nina N. Powell-Hamilton
- , Isabelle Thiffault
- , Kendra Engleman
- , Dihong Zhou
- , Olaf Bodamer
- , Julia Hoefele
- , Korbinian M. Riedhammer
- , Eva M. C. Schwaibold
- , Velibor Tasic
- , Dirk Schubert
- , Deniz Top
- , Rolph Pfundt
- , Martin R. Higgs
- , Jamie M. Kramer
- & Tjitske Kleefstra
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Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis
- Charlotte W. Ockeloen
- , Kriti D. Khandelwal
- , Karoline Dreesen
- , Kerstin U. Ludwig
- , Robert Sullivan
- , Iris A. L. M. van Rooij
- , Michelle Thonissen
- , Steven Swinnen
- , Milien Phan
- , Federica Conte
- , Nina Ishorst
- , Christian Gilissen
- , Laury Roa Fuentes
- , Maartje van de Vorst
- , Arjen Henkes
- , Marloes Steehouwer
- , Ellen van Beusekom
- , Marjon Bloemen
- , Bruno Vankeirsbilck
- , Stefaan Bergé
- , Greet Hens
- , Joseph Schoenaers
- , Vincent Vander Poorten
- , Jasmien Roosenboom
- , An Verdonck
- , Koen Devriendt
- , Nel Roeleveldt
- , Shalini N. Jhangiani
- , Lisenka E.L.M. Vissers
- , James R. Lupski
- , Joep de Ligt
- , Johannes W. Von den Hoff
- , Rolph Pfundt
- , Han G. Brunner
- , Huiqing Zhou
- , Jill Dixon
- , Elisabeth Mangold
- , Hans van Bokhoven
- , Michael J. Dixon
- , Tjitske Kleefstra
- , Alexander Hoischen
- & Carine E. L. Carels
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Research | | Open
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Genome sequencing identifies major causes of severe intellectual disability
- Christian Gilissen
- , Jayne Y. Hehir-Kwa
- , Djie Tjwan Thung
- , Maartje van de Vorst
- , Bregje W. M. van Bon
- , Marjolein H. Willemsen
- , Michael Kwint
- , Irene M. Janssen
- , Alexander Hoischen
- , Annette Schenck
- , Richard Leach
- , Robert Klein
- , Rick Tearle
- , Tan Bo
- , Rolph Pfundt
- , Helger G. Yntema
- , Bert B. A. de Vries
- , Tjitske Kleefstra
- , Han G. Brunner
- , Lisenka E. L. M. Vissers
- & Joris A. Veltman
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Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
- Nina De Rocker
- , Sarah Vergult
- , David Koolen
- , Eva Jacobs
- , Alexander Hoischen
- , Susan Zeesman
- , Birgitte Bang
- , Frédérique Béna
- , Nele Bockaert
- , Ernie M. Bongers
- , Thomy de Ravel
- , Koenraad Devriendt
- , Sabrina Giglio
- , Laurence Faivre
- , Shelagh Joss
- , Saskia Maas
- , Nathalie Marle
- , Francesca Novara
- , Malgorzata J.M. Nowaczyk
- , Hilde Peeters
- , Abeltje Polstra
- , Filip Roelens
- , Carla Rosenberg
- , Julien Thevenon
- , Zeynep Tümer
- , Suzanne Vanhauwaert
- , Konstantinos Varvagiannis
- , Andy Willaert
- , Marjolein Willemsen
- , Marjolaine Willems
- , Orsetta Zuffardi
- , Paul Coucke
- , Frank Speleman
- , Evan E. Eichler
- , Tjitske Kleefstra
- & Björn Menten
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Research |
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy
- Arjan PM de Brouwer
- , Sander B Nabuurs
- , Ingrid EC Verhaart
- , Astrid R Oudakker
- , Roel Hordijk
- , Helger G Yntema
- , Jannet M Hordijk-Hos
- , Krysta Voesenek
- , Bert BA de Vries
- , Ton van Essen
- , Wei Chen
- , Hao Hu
- , Jamel Chelly
- , Johan T den Dunnen
- , Vera M Kalscheuer
- , Annemieke M Aartsma-Rus
- , Ben CJ Hamel
- , Hans van Bokhoven
- & Tjitske Kleefstra
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Research |
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Amendments and Corrections |
Erratum: Further delineation of the KBG syndrome caused by ANKRD11 aberrations
- Charlotte W Ockeloen
- , Marjolein H Willemsen
- , Sonja de Munnik
- , Bregje WM van Bon
- , Nicole de Leeuw
- , Aad Verrips
- , Sarina G Kant
- , Elizabeth A Jones
- , Han G Brunner
- , Rosa LE van Loon
- , Eric EJ Smeets
- , Mieke M van Haelst
- , Gijs van Haaften
- , Ann Nordgren
- , Helena Malmgren
- , Giedre Grigelioniene
- , Sascha Vermeer
- , Pedro Louro
- , Lina Ramos
- , Thomas JJ Maal
- , Celeste C van Heumen
- , Helger G Yntema
- , Carine EL Carels
- & Tjitske Kleefstra
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Research |
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Amendments and Corrections |
Erratum: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
- Dorien Lugtenberg
- , Tjitske Kleefstra
- , Astrid R Oudakker
- , Willy M Nillesen
- , Helger G Yntema
- , Andreas Tzschach
- , Martine Raynaud
- , Dietz Rating
- , Hubert Journel
- , Jamel Chelly
- , Cyril Goizet
- , Didier Lacombe
- , Jean-Michel Pedespan
- , Bernard Echenne
- , Gholamali Tariverdian
- , Declan O'Rourke
- , Mary D King
- , Andrew Green
- , Margriet van Kogelenberg
- , Hilde Van Esch
- , Jozef Gecz
- , Ben CJ Hamel
- , Hans van Bokhoven
- & Arjan PM de Brouwer
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Research |
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing
- Wei Chen
- , Reinhard Ullmann
- , Claudia Langnick
- , Corinna Menzel
- , Zofia Wotschofsky
- , Hao Hu
- , Andreas Döring
- , Yuhui Hu
- , Hui Kang
- , Andreas Tzschach
- , Maria Hoeltzenbein
- , Heidemarie Neitzel
- , Susanne Markus
- , Eberhard Wiedersberg
- , Gerd Kistner
- , Conny MA van Ravenswaaij-Arts
- , Tjitske Kleefstra
- , Vera M Kalscheuer
- & Hans-Hilger Ropers
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Research |
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Research |
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Research |
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
- Dorien Lugtenberg
- , Tjitske Kleefstra
- , Astrid R Oudakker
- , Willy M Nillesen
- , Helger G Yntema
- , Andreas Tzschach
- , Martine Raynaud
- , Dietz Rating
- , Hubert Journel
- , Jamel Chelly
- , Cyril Goizet
- , Didier Lacombe
- , Jean-Michel Pedespan
- , Bernard Echenne
- , Gholamali Tariverdian
- , Declan O'Rourke
- , Mary D King
- , Andrew Green
- , Margriet van Kogelenberg
- , Hilde Van Esch
- , Jozef Gecz
- , Ben C J Hamel
- , Hans van Bokhoven
- & Arjan P M de Brouwer
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Research |
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Research |
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Research | | Open
Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling
- Monica Frega
- , Katrin Linda
- , Jason M. Keller
- , Güvem Gümüş-Akay
- , Britt Mossink
- , Jon-Ruben van Rhijn
- , Moritz Negwer
- , Teun Klein Gunnewiek
- , Katharina Foreman
- , Nine Kompier
- , Chantal Schoenmaker
- , Willem van den Akker
- , Ilse van der Werf
- , Astrid Oudakker
- , Huiqing Zhou
- , Tjitske Kleefstra
- , Dirk Schubert
- , Hans van Bokhoven
- & Nael Nadif Kasri
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Research | | Open
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
- Hui Guo
- , Elisa Bettella
- , Paul C. Marcogliese
- , Rongjuan Zhao
- , Jonathan C. Andrews
- , Tomasz J. Nowakowski
- , Madelyn A. Gillentine
- , Kendra Hoekzema
- , Tianyun Wang
- , Huidan Wu
- , Sharayu Jangam
- , Cenying Liu
- , Hailun Ni
- , Marjolein H. Willemsen
- , Bregje W. van Bon
- , Tuula Rinne
- , Servi J. C. Stevens
- , Tjitske Kleefstra
- , Han G. Brunner
- , Helger G. Yntema
- , Min Long
- , Wenjing Zhao
- , Zhengmao Hu
- , Cindy Colson
- , Nicolas Richard
- , Charles E. Schwartz
- , Corrado Romano
- , Lucia Castiglia
- , Maria Bottitta
- , Shweta U. Dhar
- , Deanna J. Erwin
- , Lisa Emrick
- , Boris Keren
- , Alexandra Afenjar
- , Baosheng Zhu
- , Bing Bai
- , Pawel Stankiewicz
- , Kristin Herman
- , Deborah A. Nickerson
- , Michael J. Bamshad
- , Saadet Mercimek-Andrews
- , Jane Juusola
- , Amy B. Wilfert
- , Rami Abou Jamra
- , Benjamin Büttner
- , Heather C. Mefford
- , Alison M. Muir
- , Ingrid E. Scheffer
- , Brigid M. Regan
- , Stephen Malone
- , Jozef Gecz
- , Jan Cobben
- , Marjan M. Weiss
- , Quinten Waisfisz
- , Emilia K. Bijlsma
- , Mariëtte J. V. Hoffer
- , Claudia A. L. Ruivenkamp
- , Stefano Sartori
- , Fan Xia
- , Jill A. Rosenfeld
- , Raphael A. Bernier
- , Michael F. Wangler
- , Shinya Yamamoto
- , Kun Xia
- , Alexander P. A. Stegmann
- , Hugo J. Bellen
- , Alessandra Murgia
- & Evan E. Eichler
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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
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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
- , Jill Clayton-Smith
- , Virginia Clowes
- , Andrea Coates
- , Trevor Cole
- , Irina Colgiu
- , Amanda Collins
- , Morag N. Collinson
- , Fiona Connell
- , Nicola Cooper
- , Helen Cox
- , Lara Cresswell
- , Gareth Cross
- , Yanick Crow
- , Mariella D’Alessandro
- , Tabib Dabir
- , Rosemarie Davidson
- , Sally Davies
- , Dylan de Vries
- , John Dean
- , Charu Deshpande
- , Gemma Devlin
- , Abhijit Dixit
- , Angus Dobbie
- , Alan Donaldson
- , Dian Donnai
- , Deirdre Donnelly
- , Carina Donnelly
- , Angela Douglas
- , Sofia Douzgou
- , Alexis Duncan
- , Jacqueline Eason
- , Sian Ellard
- , Ian Ellis
- , Frances Elmslie
- , Karenza Evans
- , Sarah Everest
- , Tina Fendick
- , Richard Fisher
- , Frances Flinter
- , Nicola Foulds
- , Andrew Fry
- , Alan Fryer
- , Carol Gardiner
- , Lorraine Gaunt
- , Neeti Ghali
- , Richard Gibbons
- , Harinder Gill
- , Judith Goodship
- , David Goudie
- , Emma Gray
- , Andrew Green
- , Philip Greene
- , Lynn Greenhalgh
- , Susan Gribble
- , Rachel Harrison
- , Lucy Harrison
- , Victoria Harrison
- , Rose Hawkins
- , Liu He
- , Stephen Hellens
- , Alex Henderson
- , Sarah Hewitt
- , Lucy Hildyard
- , Emma Hobson
- , Simon Holden
- , Muriel Holder
- , Susan Holder
- , Georgina Hollingsworth
- , Tessa Homfray
- , Mervyn Humphreys
- , Jane Hurst
- , Ben Hutton
- , Stuart Ingram
- , Melita Irving
- , Lily Islam
- , Andrew Jackson
- , Joanna Jarvis
- , Lucy Jenkins
- , Diana Johnson
- , Elizabeth Jones
- , Dragana Josifova
- , Shelagh Joss
- , Beckie Kaemba
- , Sandra Kazembe
- , Rosemary Kelsell
- , Bronwyn Kerr
- , Helen Kingston
- , Usha Kini
- , Esther Kinning
- , Gail Kirby
- , Claire Kirk
- , Emma Kivuva
- , Alison Kraus
- , Dhavendra Kumar
- , V. K. Ajith Kumar
- , Katherine Lachlan
- , Wayne Lam
- , Anne Lampe
- , Caroline Langman
- , Melissa Lees
- , Derek Lim
- , Cheryl Longman
- , Gordon Lowther
- , Sally A. Lynch
- , Alex Magee
- , Eddy Maher
- , Alison Male
- , Sahar Mansour
- , Karen Marks
- , Katherine Martin
- , Una Maye
- , Emma McCann
- , Vivienne McConnell
- , Meriel McEntagart
- , Ruth McGowan
- , Kirsten McKay
- , Shane McKee
- , Dominic J. McMullan
- , Susan McNerlan
- , Catherine McWilliam
- , Sarju Mehta
- , Kay Metcalfe
- , Anna Middleton
- , Zosia Miedzybrodzka
- , Emma Miles
- , Shehla Mohammed
- , Tara Montgomery
- , David Moore
- , Sian Morgan
- , Jenny Morton
- , Hood Mugalaasi
- , Victoria Murday
- , Helen Murphy
- , Swati Naik
- , Andrea Nemeth
- , Louise Nevitt
- , Andrew Norman
- , Rosie O’Shea
- , Caroline Ogilvie
- , Kai-Ren Ong
- , Soo-Mi Park
- , Michael J. Parker
- , Chirag Patel
- , Joan Paterson
- , Stewart Payne
- , Daniel Perrett
- , Julie Phipps
- , Daniela T. Pilz
- , Martin Pollard
- , Caroline Pottinger
- , Joanna Poulton
- , Norman Pratt
- , Katrina Prescott
- , Abigail Pridham
- , Annie Procter
- , Hellen Purnell
- , Oliver Quarrell
- , Nicola Ragge
- , Raheleh Rahbari
- , Josh Randall
- , Lucy Raymond
- , Debbie Rice
- , Leema Robert
- , Eileen Roberts
- , Jonathan Roberts
- , Paul Roberts
- , Gillian Roberts
- , Alison Ross
- , Elisabeth Rosser
- , Anand Saggar
- , Shalaka Samant
- , Julian Sampson
- , Richard Sandford
- , Ajoy Sarkar
- , Susann Schweiger
- , Richard Scott
- , Ingrid Scurr
- , Ann Selby
- , Anneke Seller
- , Cheryl Sequeira
- , Nora Shannon
- , Saba Sharif
- , Charles Shaw-Smith
- , Emma Shearing
- , Debbie Shears
- , Eamonn Sheridan
- , Ingrid Simonic
- , Roldan Singzon
- , Zara Skitt
- , Audrey Smith
- , Kath Smith
- , Sarah Smithson
- , Linda Sneddon
- , Miranda Splitt
- , Miranda Squires
- , Fiona Stewart
- , Helen Stewart
- , Volker Straub
- , Mohnish Suri
- , Vivienne Sutton
- , Ganesh Jawahar Swaminathan
- , Elizabeth Sweeney
- , Kate Tatton-Brown
- , Cat Taylor
- , Rohan Taylor
- , Mark Tein
- , I. Karen Temple
- , Jenny Thomson
- , Marc Tischkowitz
- , Susan Tomkins
- , Audrey Torokwa
- , Becky Treacy
- , Claire Turner
- , Peter Turnpenny
- , Carolyn Tysoe
- , Anthony Vandersteen
- , Vinod Varghese
- , Pradeep Vasudevan
- , Parthiban Vijayarangakannan
- , Julie Vogt
- , Emma Wakeling
- , Sarah Wallwark
- , Jonathon Waters
- , Astrid Weber
- , Diana Wellesley
- , Margo Whiteford
- , Sara Widaa
- , Sarah Wilcox
- , Emily Wilkinson
- , Denise Williams
- , Nicola Williams
- , Louise Wilson
- , Geoff Woods
- , Christopher Wragg
- , Michael Wright
- , Laura Yates
- , Michael Yau
- , Chris Nellåker
- , Michael Parker
- , Helen V. Firth
- , Caroline F. Wright
- , David R. FitzPatrick
- , Jeffrey C. Barrett
- , Matthew E. Hurles
- , John D. Roberts
- , Robert M. Petrovich
- , Shinichi Machida
- , Hitoshi Kurumizaka
- , Stefan Lelieveld
- , Rolph Pfundt
- , Sandra Jansen
- , Pelagia Deriziotis
- , Laurence Faivre
- , Julien Thevenon
- , Mirna Assoum
- , Lawrence Shriberg
- , Tjitske Kleefstra
- , Han G. Brunner
- , Paul A. Wade
- , Simon E. Fisher
- & Philippe M. Campeau
-
Research | | Open
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
- Lot Snijders Blok
- , Justine Rousseau
- , Joanna Twist
- , Sophie Ehresmann
- , Motoki Takaku
- , Hanka Venselaar
- , Lance H. Rodan
- , Catherine B. Nowak
- , Jessica Douglas
- , Kathryn J. Swoboda
- , Marcie A. Steeves
- , Inderneel Sahai
- , Connie T. R. M. Stumpel
- , Alexander P. A. Stegmann
- , Patricia Wheeler
- , Marcia Willing
- , Elise Fiala
- , Aaina Kochhar
- , William T. Gibson
- , Ana S. A. Cohen
- , Ruky Agbahovbe
- , A. Micheil Innes
- , P. Y. Billie Au
- , Julia Rankin
- , Ilse J. Anderson
- , Steven A. Skinner
- , Raymond J. Louie
- , Hannah E. Warren
- , Alexandra Afenjar
- , Boris Keren
- , Caroline Nava
- , Julien Buratti
- , Arnaud Isapof
- , Diana Rodriguez
- , Raymond Lewandowski
- , Jennifer Propst
- , Ton van Essen
- , Murim Choi
- , Sangmoon Lee
- , Jong H. Chae
- , Susan Price
- , Rhonda E. Schnur
- , Ganka Douglas
- , Ingrid M. Wentzensen
- , Christiane Zweier
- , André Reis
- , Martin G. Bialer
- , Christine Moore
- , Marije Koopmans
- , Eva H. Brilstra
- , Glen R. Monroe
- , Koen L. I. van Gassen
- , Ellen van Binsbergen
- , Ruth Newbury-Ecob
- , Lucy Bownass
- , Ingrid Bader
- , Johannes A. Mayr
- , Saskia B. Wortmann
- , Kathy J. Jakielski
- , Edythe A. Strand
- , Katja Kloth
- , Tatjana Bierhals
- , Jeremy F. McRae
- , Stephen Clayton
- , Tomas W. Fitzgerald
- , Joanna Kaplanis
- , Elena Prigmore
- , Diana Rajan
- , Alejandro Sifrim
- , Stuart Aitken
- , Nadia Akawi
- , Mohsan Alvi
- , Kirsty Ambridge
- , Daniel M. Barrett
- , Tanya Bayzetinova
- , Philip Jones
- , Wendy D. Jones
- , Daniel King
- , Netravathi Krishnappa
- , Laura E. Mason
- , Tarjinder Singh
- , Adrian R. Tivey
- , Munaza Ahmed
- , Uruj Anjum
- , Hayley Archer
- , Ruth Armstrong
- , Jana Awada
- , Meena Balasubramanian
- , Siddharth Banka
- , Diana Baralle
- , Angela Barnicoat
- , Paul Batstone
- , David Baty
- , Chris Bennett
- , Jonathan Berg
- , Birgitta Bernhard
- , A. Paul Bevan
- , Maria Bitner-Glindzicz
- , Edward Blair
- , Moira Blyth
- , David Bohanna
- , Louise Bourdon
- , David Bourn
- , Lisa Bradley
- , Angela Brady
- , Simon Brent
- , Carole Brewer
- , Kate Brunstrom
- , David J. Bunyan
- , John Burn
- , Natalie Canham
- , Bruce Castle
- , Kate Chandler
- , Elena Chatzimichali
- , Deirdre Cilliers
- , Angus Clarke
- , Susan Clasper
- , Jill Clayton-Smith
- , Virginia Clowes
- , Andrea Coates
- , Trevor Cole
- , Irina Colgiu
- , Amanda Collins
- , Morag N. Collinson
- , Fiona Connell
- , Nicola Cooper
- , Helen Cox
- , Lara Cresswell
- , Gareth Cross
- , Yanick Crow
- , Mariella D’Alessandro
- , Tabib Dabir
- , Rosemarie Davidson
- , Sally Davies
- , Dylan de Vries
- , John Dean
- , Charu Deshpande
- , Gemma Devlin
- , Abhijit Dixit
- , Angus Dobbie
- , Alan Donaldson
- , Dian Donnai
- , Deirdre Donnelly
- , Carina Donnelly
- , Angela Douglas
- , Sofia Douzgou
- , Alexis Duncan
- , Jacqueline Eason
- , Sian Ellard
- , Ian Ellis
- , Frances Elmslie
- , Karenza Evans
- , Sarah Everest
- , Tina Fendick
- , Richard Fisher
- , Frances Flinter
- , Nicola Foulds
- , Andrew Fry
- , Alan Fryer
- , Carol Gardiner
- , Lorraine Gaunt
- , Neeti Ghali
- , Richard Gibbons
- , Harinder Gill
- , Judith Goodship
- , David Goudie
- , Emma Gray
- , Andrew Green
- , Philip Greene
- , Lynn Greenhalgh
- , Susan Gribble
- , Rachel Harrison
- , Lucy Harrison
- , Victoria Harrison
- , Rose Hawkins
- , Liu He
- , Stephen Hellens
- , Alex Henderson
- , Sarah Hewitt
- , Lucy Hildyard
- , Emma Hobson
- , Simon Holden
- , Muriel Holder
- , Susan Holder
- , Georgina Hollingsworth
- , Tessa Homfray
- , Mervyn Humphreys
- , Jane Hurst
- , Ben Hutton
- , Stuart Ingram
- , Melita Irving
- , Lily Islam
- , Andrew Jackson
- , Joanna Jarvis
- , Lucy Jenkins
- , Diana Johnson
- , Elizabeth Jones
- , Dragana Josifova
- , Shelagh Joss
- , Beckie Kaemba
- , Sandra Kazembe
- , Rosemary Kelsell
- , Bronwyn Kerr
- , Helen Kingston
- , Usha Kini
- , Esther Kinning
- , Gail Kirby
- , Claire Kirk
- , Emma Kivuva
- , Alison Kraus
- , Dhavendra Kumar
- , V. K. Ajith Kumar
- , Katherine Lachlan
- , Wayne Lam
- , Anne Lampe
- , Caroline Langman
- , Melissa Lees
- , Derek Lim
- , Cheryl Longman
- , Gordon Lowther
- , Sally A. Lynch
- , Alex Magee
- , Eddy Maher
- , Alison Male
- , Sahar Mansour
- , Karen Marks
- , Katherine Martin
- , Una Maye
- , Emma McCann
- , Vivienne McConnell
- , Meriel McEntagart
- , Ruth McGowan
- , Kirsten McKay
- , Shane McKee
- , Dominic J. McMullan
- , Susan McNerlan
- , Catherine McWilliam
- , Sarju Mehta
- , Kay Metcalfe
- , Anna Middleton
- , Zosia Miedzybrodzka
- , Emma Miles
- , Shehla Mohammed
- , Tara Montgomery
- , David Moore
- , Sian Morgan
- , Jenny Morton
- , Hood Mugalaasi
- , Victoria Murday
- , Helen Murphy
- , Swati Naik
- , Andrea Nemeth
- , Louise Nevitt
- , Andrew Norman
- , Rosie O’Shea
- , Caroline Ogilvie
- , Kai-Ren Ong
- , Soo-Mi Park
- , Michael J. Parker
- , Chirag Patel
- , Joan Paterson
- , Stewart Payne
- , Daniel Perrett
- , Julie Phipps
- , Daniela T. Pilz
- , Martin Pollard
- , Caroline Pottinger
- , Joanna Poulton
- , Norman Pratt
- , Katrina Prescott
- , Abigail Pridham
- , Annie Procter
- , Hellen Purnell
- , Oliver Quarrell
- , Nicola Ragge
- , Raheleh Rahbari
- , Josh Randall
- , Lucy Raymond
- , Debbie Rice
- , Leema Robert
- , Eileen Roberts
- , Jonathan Roberts
- , Paul Roberts
- , Gillian Roberts
- , Alison Ross
- , Elisabeth Rosser
- , Anand Saggar
- , Shalaka Samant
- , Julian Sampson
- , Richard Sandford
- , Ajoy Sarkar
- , Susann Schweiger
- , Richard Scott
- , Ingrid Scurr
- , Ann Selby
- , Anneke Seller
- , Cheryl Sequeira
- , Nora Shannon
- , Saba Sharif
- , Charles Shaw-Smith
- , Emma Shearing
- , Debbie Shears
- , Eamonn Sheridan
- , Ingrid Simonic
- , Roldan Singzon
- , Zara Skitt
- , Audrey Smith
- , Kath Smith
- , Sarah Smithson
- , Linda Sneddon
- , Miranda Splitt
- , Miranda Squires
- , Fiona Stewart
- , Helen Stewart
- , Volker Straub
- , Mohnish Suri
- , Vivienne Sutton
- , Ganesh Jawahar Swaminathan
- , Elizabeth Sweeney
- , Kate Tatton-Brown
- , Cat Taylor
- , Rohan Taylor
- , Mark Tein
- , I. Karen Temple
- , Jenny Thomson
- , Marc Tischkowitz
- , Susan Tomkins
- , Audrey Torokwa
- , Becky Treacy
- , Claire Turner
- , Peter Turnpenny
- , Carolyn Tysoe
- , Anthony Vandersteen
- , Vinod Varghese
- , Pradeep Vasudevan
- , Parthiban Vijayarangakannan
- , Julie Vogt
- , Emma Wakeling
- , Sarah Wallwark
- , Jonathon Waters
- , Astrid Weber
- , Diana Wellesley
- , Margo Whiteford
- , Sara Widaa
- , Sarah Wilcox
- , Emily Wilkinson
- , Denise Williams
- , Nicola Williams
- , Louise Wilson
- , Geoff Woods
- , Christopher Wragg
- , Michael Wright
- , Laura Yates
- , Michael Yau
- , Chris Nellåker
- , Michael Parker
- , Helen V. Firth
- , Caroline F. Wright
- , David R. FitzPatrick
- , Jeffrey C. Barrett
- , Matthew E. Hurles
- , John D. Roberts
- , Robert M. Petrovich
- , Shinichi Machida
- , Hitoshi Kurumizaka
- , Stefan Lelieveld
- , Rolph Pfundt
- , Sandra Jansen
- , Pelagia Deriziotis
- , Laurence Faivre
- , Julien Thevenon
- , Mirna Assoum
- , Lawrence Shriberg
- , Tjitske Kleefstra
- , Han G. Brunner
- , Paul A. Wade
- , Simon E. Fisher
- & Philippe M. Campeau
-
Research | | Open
Identification of rare de novo epigenetic variations in congenital disorders
- Mafalda Barbosa
- , Ricky S. Joshi
- , Paras Garg
- , Alejandro Martin-Trujillo
- , Nihir Patel
- , Bharati Jadhav
- , Corey T. Watson
- , William Gibson
- , Kelsey Chetnik
- , Chloe Tessereau
- , Hui Mei
- , Silvia De Rubeis
- , Jennifer Reichert
- , Fatima Lopes
- , Lisenka E. L. M. Vissers
- , Tjitske Kleefstra
- , Dorothy E. Grice
- , Lisa Edelmann
- , Gabriela Soares
- , Patricia Maciel
- , Han G. Brunner
- , Joseph D. Buxbaum
- , Bruce D. Gelb
- & Andrew J. Sharp
-
Research |
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
- Sandra Jansen
- , Alexander Hoischen
- , Bradley P. Coe
- , Gemma L. Carvill
- , Hilde Van Esch
- , Daniëlle G. M. Bosch
- , Ulla A. Andersen
- , Carl Baker
- , Marijke Bauters
- , Raphael A. Bernier
- , Bregje W. van Bon
- , Hedi L. Claahsen-van der Grinten
- , Jozef Gecz
- , Christian Gilissen
- , Lucia Grillo
- , Anna Hackett
- , Tjitske Kleefstra
- , David Koolen
- , Malin Kvarnung
- , Martin J. Larsen
- , Carlo Marcelis
- , Fiona McKenzie
- , Marie-Lorraine Monin
- , Caroline Nava
- , Janneke H. Schuurs-Hoeijmakers
- , Rolph Pfundt
- , Marloes Steehouwer
- , Servi J. C. Stevens
- , Connie T. Stumpel
- , Fleur Vansenne
- , Mirella Vinci
- , Maartje van de Vorst
- , Petra de Vries
- , Kali Witherspoon
- , Joris A. Veltman
- , Han G. Brunner
- , Heather C. Mefford
- , Corrado Romano
- , Lisenka E. L. M. Vissers
- , Evan E. Eichler
- & Bert B. A. de Vries
-
Research |
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity
- Sharon Kolk, Tjitske Kleefstra and colleagues identify loss-of...
- Josefine S Witteveen
- , Marjolein H Willemsen
- , Thaís C D Dombroski
- , Nick H M van Bakel
- , Willy M Nillesen
- , Josephus A van Hulten
- , Eric J R Jansen
- , Dave Verkaik
- , Hermine E Veenstra-Knol
- , Conny M A van Ravenswaaij-Arts
- , Jolien S Klein Wassink-Ruiter
- , Marie Vincent
- , Albert David
- , Cedric Le Caignec
- , Jolanda Schieving
- , Christian Gilissen
- , Nicola Foulds
- , Patrick Rump
- , Tim Strom
- , Kirsten Cremer
- , Alexander M Zink
- , Hartmut Engels
- , Sonja A de Munnik
- , Jasper E Visser
- , Han G Brunner
- , Gerard J M Martens
- , Rolph Pfundt
- , Tjitske Kleefstra
- & Sharon M Kolk
-
Research |
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila
- Dorien Lugtenberg
- , Margot R F Reijnders
- , Michaela Fenckova
- , Emilia K Bijlsma
- , Raphael Bernier
- , Bregje W M van Bon
- , Eric Smeets
- , Anneke T Vulto-van Silfhout
- , Danielle Bosch
- , Evan E Eichler
- , Heather C Mefford
- , Gemma L Carvill
- , Ernie M H F Bongers
- , Janneke HM Schuurs-Hoeijmakers
- , Claudia A Ruivenkamp
- , Gijs W E Santen
- , Arn M J M van den Maagdenberg
- , Cacha M P C D Peeters-Scholte
- , Sabine Kuenen
- , Patrik Verstreken
- , Rolph Pfundt
- , Helger G Yntema
- , Petra F de Vries
- , Joris A Veltman
- , Alexander Hoischen
- , Christian Gilissen
- , Bert B A de Vries
- , Annette Schenck
- , Tjitske Kleefstra
- & Lisenka E L M Vissers
-
Research |
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
- Stefan H Lelieveld
- , Margot R F Reijnders
- , Rolph Pfundt
- , Helger G Yntema
- , Erik-Jan Kamsteeg
- , Petra de Vries
- , Bert B A de Vries
- , Marjolein H Willemsen
- , Tjitske Kleefstra
- , Katharina Löhner
- , Maaike Vreeburg
- , Servi J C Stevens
- , Ineke van der Burgt
- , Ernie M H F Bongers
- , Alexander P A Stegmann
- , Patrick Rump
- , Tuula Rinne
- , Marcel R Nelen
- , Joris A Veltman
- , Lisenka E L M Vissers
- , Han G Brunner
- & Christian Gilissen
-
Research | | Open
-
Research |
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
- Charlotte W Ockeloen
- , Marjolein H Willemsen
- , Sonja de Munnik
- , Bregje WM van Bon
- , Nicole de Leeuw
- , Aad Verrips
- , Sarina G Kant
- , Elizabeth A Jones
- , Han G Brunner
- , Rosa LE van Loon
- , Eric EJ Smeets
- , Mieke M van Haelst
- , Gijs van Haaften
- , Ann Nordgren
- , Helena Malmgren
- , Giedre Grigelioniene
- , Sascha Vermeer
- , Pedro Louro
- , Lina Ramos
- , Thomas JJ Maal
- , Celeste C van Heumen
- , Helger G Yntema
- , Carine EL Carels
- & Tjitske Kleefstra
-
Research |
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
- Céline Helsmoortel
- , Anneke T Vulto-van Silfhout
- , Bradley P Coe
- , Geert Vandeweyer
- , Liesbeth Rooms
- , Jenneke van den Ende
- , Janneke H M Schuurs-Hoeijmakers
- , Carlo L Marcelis
- , Marjolein H Willemsen
- , Lisenka E L M Vissers
- , Helger G Yntema
- , Madhura Bakshi
- , Meredith Wilson
- , Kali T Witherspoon
- , Helena Malmgren
- , Ann Nordgren
- , Göran Annerén
- , Marco Fichera
- , Paolo Bosco
- , Corrado Romano
- , Bert B A de Vries
- , Tjitske Kleefstra
- , R Frank Kooy
- , Evan E Eichler
- & Nathalie Van der Aa
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Research |
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Research |
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
- Jean-Baptiste Rivière
- , Bregje W M van Bon
- , Alexander Hoischen
- , Stanislav S Kholmanskikh
- , Brian J O'Roak
- , Christian Gilissen
- , Sabine Gijsen
- , Christopher T Sullivan
- , Susan L Christian
- , Omar A Abdul-Rahman
- , Joan F Atkin
- , Nicolas Chassaing
- , Valerie Drouin-Garraud
- , Andrew E Fry
- , Jean-Pierre Fryns
- , Karen W Gripp
- , Marlies Kempers
- , Tjitske Kleefstra
- , Grazia M S Mancini
- , Małgorzata J M Nowaczyk
- , Conny M A van Ravenswaaij-Arts
- , Tony Roscioli
- , Michael Marble
- , Jill A Rosenfeld
- , Victoria M Siu
- , Bert B A de Vries
- , Jay Shendure
- , Alain Verloes
- , Joris A Veltman
- , Han G Brunner
- , M Elizabeth Ross
- , Daniela T Pilz
- & William B Dobyns
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Research |
