Showing 1–42 of 42 results
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Research |
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Research |
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
- Sandra Jansen
- , Ilse M. van der Werf
- , A. Micheil Innes
- , Alexandra Afenjar
- , Pankaj B. Agrawal
- , Ilse J. Anderson
- , Paldeep S. Atwal
- , Ellen van Binsbergen
- , Marie-José van den Boogaard
- , Lucia Castiglia
- , Zeynep H. Coban-Akdemir
- , Anke van Dijck
- , Diane Doummar
- , Albertien M. van Eerde
- , Anthonie J. van Essen
- , Koen L. van Gassen
- , Maria J. Guillen Sacoto
- , Mieke M. van Haelst
- , Ivan Iossifov
- , Jessica L. Jackson
- , Elizabeth Judd
- , Charu Kaiwar
- , Boris Keren
- , Eric W. Klee
- , Jolien S. Klein Wassink-Ruiter
- , Marije E. Meuwissen
- , Kristin G. Monaghan
- , Sonja A. de Munnik
- , Caroline Nava
- , Charlotte W. Ockeloen
- , Rosa Pettinato
- , Hilary Racher
- , Tuula Rinne
- , Corrado Romano
- , Victoria R. Sanders
- , Rhonda E. Schnur
- , Eric J. Smeets
- , Alexander P. A. Stegmann
- , Asbjørg Stray-Pedersen
- , David A. Sweetser
- , Paulien A. Terhal
- , Kristian Tveten
- , Grace E. VanNoy
- , Petra F. de Vries
- , Jessica L. Waxler
- , Marcia Willing
- , Rolph Pfundt
- , Joris A. Veltman
- , R. Frank Kooy
- , Lisenka E. L. M. Vissers
- & Bert B. A. de Vries
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Amendments and Corrections |
Correction: Corrigendum: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations
- Chun-An Chen
- , Daniëlle G M Bosch
- , Megan T Cho ScM
- , Jill A Rosenfeld
- , Marwan Shinawi
- , Richard Alan Lewis
- , John Mann
- , Parul Jayakar
- , Katelyn Payne
- , Laurence Walsh
- , Timothy Moss
- , Allison Schreiber
- , Cheri Schoonveld
- , Kristin G Monaghan
- , Frances Elmslie
- , Ganka Douglas
- , F Nienke Boonstra
- , Francisca Millan
- , Frans P M Cremers
- , Dianalee McKnight
- , Gabriele Richard
- , Jane Juusola
- , Fran Kendall
- , Keri Ramsey
- , Kwame Anyane-Yeboa
- , Elfrida Malkin
- , Wendy K Chung
- , Dmitriy Niyazov
- , Juan M Pascual
- , Magdalena Walkiewicz
- , Vivekanand Veluchamy
- , Chumei Li
- , Fuki M Hisama
- , Bert B A de Vries
- & Christian Schaaf
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News and Views |
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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
- David A Koolen
- , Lisenka E L M Vissers
- , Rolph Pfundt
- , Nicole de Leeuw
- , Samantha JL Knight
- , Regina Regan
- , R Frank Kooy
- , Edwin Reyniers
- , Corrado Romano
- , Marco Fichera
- , Albert Schinzel
- , Alessandra Baumer
- , Britt-Marie Anderlid
- , Jacqueline Schoumans
- , Nine V Knoers
- , Ad Geurts van Kessel
- , Erik A Sistermans
- , Joris A Veltman
- , Han G Brunner
- & Bert B A de Vries
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Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
- David A Koolen
- , Jamie M Kramer
- , Kornelia Neveling
- , Willy M Nillesen
- , Heather L Moore-Barton
- , Frances V Elmslie
- , Annick Toutain
- , Jeanne Amiel
- , Valérie Malan
- , Anne Chun-Hui Tsai
- , Sau Wai Cheung
- , Christian Gilissen
- , Eugene T P Verwiel
- , Sarah Martens
- , Ton Feuth
- , Ernie M H F Bongers
- , Petra de Vries
- , Hans Scheffer
- , Lisenka E L M Vissers
- , Arjan P M de Brouwer
- , Han G Brunner
- , Joris A Veltman
- , Annette Schenck
- , Helger G Yntema
- & Bert B A de Vries
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Research |
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
- Alexander Hoischen
- , Bregje W M van Bon
- , Christian Gilissen
- , Peer Arts
- , Bart van Lier
- , Marloes Steehouwer
- , Petra de Vries
- , Rick de Reuver
- , Nienke Wieskamp
- , Geert Mortier
- , Koen Devriendt
- , Marta Z Amorim
- , Nicole Revencu
- , Alexa Kidd
- , Mafalda Barbosa
- , Anne Turner
- , Janine Smith
- , Christina Oley
- , Alex Henderson
- , Ian M Hayes
- , Elizabeth M Thompson
- , Han G Brunner
- , Bert B A de Vries
- & Joris A Veltman
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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
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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
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Research |
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy
- Maria J. Nabais Sá
- , Hanka Venselaar
- , Laurens Wiel
- , Aurélien Trimouille
- , Eulalie Lasseaux
- , Sophie Naudion
- , Didier Lacombe
- , Amélie Piton
- , Catherine Vincent-Delorme
- , Christiane Zweier
- , André Reis
- , Regina Trollmann
- , Anna Ruiz
- , Elisabeth Gabau
- , Annalisa Vetro
- , Renzo Guerrini
- , Somayeh Bakhtiari
- , Michael C. Kruer
- , David J. Amor
- , Monica S. Cooper
- , Emilia K. Bijlsma
- , Tahsin Stefan Barakat
- , Marieke F. van Dooren
- , Marjon van Slegtenhorst
- , Rolph Pfundt
- , Christian Gilissen
- , Michèl A. Willemsen
- , Bert B. A. de Vries
- , Arjan P. M. de Brouwer
- & David A. Koolen
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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
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Research | | Open
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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
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The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations
- Chun-An Chen
- , Daniëlle G. M. Bosch
- , Megan T. Cho
- , Jill A. Rosenfeld
- , Marwan Shinawi
- , Richard Alan Lewis
- , John Mann
- , Parul Jayakar
- , Katelyn Payne
- , Laurence Walsh
- , Timothy Moss
- , Allison Schreiber
- , Cheri Schoonveld
- , Kristin G. Monaghan
- , Frances Elmslie
- , Ganka Douglas
- , F. Nienke Boonstra
- , Francisca Millan
- , Frans P. M. Cremers
- , Dianalee McKnight
- , Gabriele Richard
- , Jane Juusola
- , Fran Kendall
- , Keri Ramsey
- , Kwame Anyane-Yeboa
- , Elfrida Malkin
- , Wendy K. Chung
- , Dmitriy Niyazov
- , Juan M. Pascual
- , Magdalena Walkiewicz
- , Vivekanand Veluchamy
- , Chumei Li
- , Fuki M. Hisama
- , Bert B. A. de Vries
- & Christian Schaaf
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Research |
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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Research |
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder
- Sureni V Mullegama
- , Jill A Rosenfeld
- , Carmen Orellana
- , Bregje W M van Bon
- , Sara Halbach
- , Elena A Repnikova
- , Lauren Brick
- , Chumei Li
- , Lucie Dupuis
- , Monica Rosello
- , Swaroop Aradhya
- , D James Stavropoulos
- , Kandamurugu Manickam
- , Elyse Mitchell
- , Jennelle C Hodge
- , Michael E Talkowski
- , James F Gusella
- , Kory Keller
- , Jonathan Zonana
- , Stuart Schwartz
- , Robert E Pyatt
- , Darrel J Waggoner
- , Lisa G Shaffer
- , Angela E Lin
- , Bert B A de Vries
- , Roberto Mendoza-Londono
- & Sarah H Elsea
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Mutations in PHF6 are associated with Börjeson–Forssman –Lehmann syndrome
- Karen M. Lower
- , Gillian Turner
- , Bronwyn A. Kerr
- , Katherine D. Mathews
- , Marie A. Shaw
- , Ági K. Gedeon
- , Susan Schelley
- , H. Eugene Hoyme
- , Susan M. White
- , Martin B. Delatycki
- , Anne K. Lampe
- , Jill Clayton-Smith
- , Helen Stewart
- , Conny M. A. van Ravenswaay
- , Bert B. A. de Vries
- , Barbara Cox
- , Markus Grompe
- , Shelley Ross
- , Paul Thomas
- , John C. Mulley
- & Jozef Gécz
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Research |
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome
- Veronica Parri
- , Eleni Katzaki
- , Vera Uliana
- , Francesca Scionti
- , Rossella Tita
- , Rosangela Artuso
- , Ilaria Longo
- , Renske Boschloo
- , Raymon Vijzelaar
- , Angelo Selicorni
- , Francesco Brancati
- , Bruno Dallapiccola
- , Leopoldo Zelante
- , Christian P Hamel
- , Pierre Sarda
- , Seema R Lalani
- , Rita Grasso
- , Sabrina Buoni
- , Joussef Hayek
- , Laurent Servais
- , Bert B A de Vries
- , Nelly Georgoudi
- , Sheena Nakou
- , Michael B Petersen
- , Francesca Mari
- , Alessandra Renieri
- & Francesca Ariani
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Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies
- Beata A Nowakowska
- , Nicole de Leeuw
- , Claudia AL Ruivenkamp
- , Birgit Sikkema-Raddatz
- , John A Crolla
- , Reinhilde Thoelen
- , Marije Koopmans
- , Nicolette den Hollander
- , Arie van Haeringen
- , Anne-Marie van der Kevie-Kersemaekers
- , Rolph Pfundt
- , Hanneke Mieloo
- , Ton van Essen
- , Bert B A de Vries
- , Andrew Green
- , Willie Reardon
- , Jean-Pierre Fryns
- & Joris R Vermeesch
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Research | | Open
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
- Maartje Pennings
- , Meyke I. Schouten
- , Judith van Gaalen
- , Rowdy P. P. Meijer
- , Susanne T. de Bot
- , Marjolein Kriek
- , Christiaan G. J. Saris
- , Leonard H. van den Berg
- , Michael A. van Es
- , Dick M. H. Zuidgeest
- , Mariet W. Elting
- , Jiddeke M. van de Kamp
- , Karin Y. van Spaendonck-Zwarts
- , Christine de Die-Smulders
- , Eva H. Brilstra
- , Corien C. Verschuuren
- , Bert B. A. de Vries
- , Jacques Bruijn
- , Kalliopi Sofou
- , Floor A. Duijkers
- , B. Jaeger
- , Jolanda H. Schieving
- , Bart P. van de Warrenburg
- & Erik-Jan Kamsteeg
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Research |
De novo and biallelic DEAF1 variants cause a phenotypic spectrum
- Maria J. Nabais Sá
- , Philip J. Jensik
- , Stacey R. McGee
- , Michael J. Parker
- , Nayana Lahiri
- , Evan P. McNeil
- , Hester Y. Kroes
- , Randi J. Hagerman
- , Rachel E. Harrison
- , Tara Montgomery
- , Miranda Splitt
- , Elizabeth E. Palmer
- , Rani K. Sachdev
- , Heather C. Mefford
- , Abbey A. Scott
- , Julian A. Martinez-Agosto
- , Rüdiger Lorenz
- , Naama Orenstein
- , Jonathan N. Berg
- , Jeanne Amiel
- , Delphine Heron
- , Boris Keren
- , Jan-Maarten Cobben
- , Leonie A. Menke
- , Elysa J. Marco
- , John M. Graham Jr
- , Tyler Mark Pierson
- , Ehsan Ghayoor Karimiani
- , Reza Maroofian
- , M. Chiara Manzini
- , Edmund S. Cauley
- , Roberto Colombo
- , Sylvie Odent
- , Christele Dubourg
- , Chanika Phornphutkul
- , Arjan P. M. de Brouwer
- , Bert B. A. de Vries
- & Anneke T. Vulto-vanSilfhout
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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
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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
-
Research |
Refining analyses of copy number variation identifies specific genes associated with developmental delay
- Bradley P Coe
- , Kali Witherspoon
- , Jill A Rosenfeld
- , Bregje W M van Bon
- , Anneke T Vulto-van Silfhout
- , Paolo Bosco
- , Kathryn L Friend
- , Carl Baker
- , Serafino Buono
- , Lisenka E L M Vissers
- , Janneke H Schuurs-Hoeijmakers
- , Alex Hoischen
- , Rolph Pfundt
- , Nik Krumm
- , Gemma L Carvill
- , Deana Li
- , David Amaral
- , Natasha Brown
- , Paul J Lockhart
- , Ingrid E Scheffer
- , Antonino Alberti
- , Marie Shaw
- , Rosa Pettinato
- , Raymond Tervo
- , Nicole de Leeuw
- , Margot R F Reijnders
- , Beth S Torchia
- , Hilde Peeters
- , Elizabeth Thompson
- , Brian J O'Roak
- , Marco Fichera
- , Jayne Y Hehir-Kwa
- , Jay Shendure
- , Heather C Mefford
- , Eric Haan
- , Jozef Gécz
- , Bert B A de Vries
- , Corrado Romano
- & Evan E Eichler
-
Research |
TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function
- Fernando Gómez-Herreros
- , Janneke H M Schuurs-Hoeijmakers
- , Mark McCormack
- , Marie T Greally
- , Stuart Rulten
- , Rocío Romero-Granados
- , Timothy J Counihan
- , Elijah Chaila
- , Judith Conroy
- , Sean Ennis
- , Norman Delanty
- , Felipe Cortés-Ledesma
- , Arjan P M de Brouwer
- , Gianpiero L Cavalleri
- , Sherif F El-Khamisy
- , Bert B A de Vries
- & Keith W Caldecott
-
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
-
Research |
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
- Sébastien Jacquemont
- , Alexandre Reymond
- , Flore Zufferey
- , Louise Harewood
- , Robin G. Walters
- , Zoltán Kutalik
- , Danielle Martinet
- , Yiping Shen
- , Armand Valsesia
- , Noam D. Beckmann
- , Gudmar Thorleifsson
- , Marco Belfiore
- , Sonia Bouquillon
- , Dominique Campion
- , Nicole de Leeuw
- , Bert B. A. de Vries
- , Tõnu Esko
- , Bridget A. Fernandez
- , Fernando Fernández-Aranda
- , José Manuel Fernández-Real
- , Mònica Gratacòs
- , Audrey Guilmatre
- , Juliane Hoyer
- , Marjo-Riitta Jarvelin
- , R. Frank Kooy
- , Ants Kurg
- , Cédric Le Caignec
- , Katrin Männik
- , Orah S. Platt
- , Damien Sanlaville
- , Mieke M. Van Haelst
- , Sergi Villatoro Gomez
- , Faida Walha
- , Bai-lin Wu
- , Yongguo Yu
- , Azzedine Aboura
- , Marie-Claude Addor
- , Yves Alembik
- , Stylianos E. Antonarakis
- , Benoît Arveiler
- , Magalie Barth
- , Nathalie Bednarek
- , Frédérique Béna
- , Sven Bergmann
- , Mylène Beri
- , Laura Bernardini
- , Bettina Blaumeiser
- , Dominique Bonneau
- , Armand Bottani
- , Odile Boute
- , Han G. Brunner
- , Dorothée Cailley
- , Patrick Callier
- , Jean Chiesa
- , Jacqueline Chrast
- , Lachlan Coin
- , Charles Coutton
- , Jean-Marie Cuisset
- , Jean-Christophe Cuvellier
- , Albert David
- , Bénédicte de Freminville
- , Bruno Delobel
- , Marie-Ange Delrue
- , Bénédicte Demeer
- , Dominique Descamps
- , Gérard Didelot
- , Klaus Dieterich
- , Vittoria Disciglio
- , Martine Doco-Fenzy
- , Séverine Drunat
- , Bénédicte Duban-Bedu
- , Christèle Dubourg
- , Julia S. El-Sayed Moustafa
- , Paul Elliott
- , Brigitte H. W. Faas
- , Laurence Faivre
- , Anne Faudet
- , Florence Fellmann
- , Alessandra Ferrarini
- , Richard Fisher
- , Elisabeth Flori
- , Lukas Forer
- , Dominique Gaillard
- , Marion Gerard
- , Christian Gieger
- , Stefania Gimelli
- , Giorgio Gimelli
- , Hans J. Grabe
- , Agnès Guichet
- , Olivier Guillin
- , Anna-Liisa Hartikainen
- , Délphine Heron
- , Loyse Hippolyte
- , Muriel Holder
- , Georg Homuth
- , Bertrand Isidor
- , Sylvie Jaillard
- , Zdenek Jaros
- , Susana Jiménez-Murcia
- , Géraldine Joly Helas
- , Philippe Jonveaux
- , Satu Kaksonen
- , Boris Keren
- , Anita Kloss-Brandstätter
- , Nine V. A. M. Knoers
- , David A. Koolen
- , Peter M. Kroisel
- , Florian Kronenberg
- , Audrey Labalme
- , Emilie Landais
- , Elisabetta Lapi
- , Valérie Layet
- , Solenn Legallic
- , Bruno Leheup
- , Barbara Leube
- , Suzanne Lewis
- , Josette Lucas
- , Kay D. MacDermot
- , Pall Magnusson
- , Christian Marshall
- , Michèle Mathieu-Dramard
- , Mark I. McCarthy
- , Thomas Meitinger
- , Maria Antonietta Mencarelli
- , Giuseppe Merla
- , Alexandre Moerman
- , Vincent Mooser
- , Fanny Morice-Picard
- , Mafalda Mucciolo
- , Matthias Nauck
- , Ndeye Coumba Ndiaye
- , Ann Nordgren
- , Laurent Pasquier
- , Florence Petit
- , Rolph Pfundt
- , Ghislaine Plessis
- , Evica Rajcan-Separovic
- , Gian Paolo Ramelli
- , Anita Rauch
- , Roberto Ravazzolo
- , Andre Reis
- , Alessandra Renieri
- , Cristobal Richart
- , Janina S. Ried
- , Claudine Rieubland
- , Wendy Roberts
- , Katharina M. Roetzer
- , Caroline Rooryck
- , Massimiliano Rossi
- , Evald Saemundsen
- , Véronique Satre
- , Claudia Schurmann
- , Engilbert Sigurdsson
- , Dimitri J. Stavropoulos
- , Hreinn Stefansson
- , Carola Tengström
- , Unnur Thorsteinsdóttir
- , Francisco J. Tinahones
- , Renaud Touraine
- , Louis Vallée
- , Ellen van Binsbergen
- , Nathalie Van der Aa
- , Catherine Vincent-Delorme
- , Sophie Visvikis-Siest
- , Peter Vollenweider
- , Henry Völzke
- , Anneke T. Vulto-van Silfhout
- , Gérard Waeber
- , Carina Wallgren-Pettersson
- , Robert M. Witwicki
- , Simon Zwolinksi
- , Joris Andrieux
- , Xavier Estivill
- , James F. Gusella
- , Omar Gustafsson
- , Andres Metspalu
- , Stephen W. Scherer
- , Kari Stefansson
- , Alexandra I. F. Blakemore
- , Jacques S. Beckmann
- & Philippe Froguel
-
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
-
Research |
The phenotype of recurrent 10q22q23 deletions and duplications
- Bregje W M van Bon
- , Jorune Balciuniene
- , Gary Fruhman
- , Sandesh Chakravarthy Sreenath Nagamani
- , Diane L Broome
- , Elizabeth Cameron
- , Danielle Martinet
- , Eliane Roulet
- , Sebastien Jacquemont
- , Jacques S Beckmann
- , Mira Irons
- , Lorraine Potocki
- , Brendan Lee
- , Sau Wai Cheung
- , Ankita Patel
- , Melissa Bellini
- , Angelo Selicorni
- , Roberto Ciccone
- , Margherita Silengo
- , Annalisa Vetro
- , Nine V Knoers
- , Nicole de Leeuw
- , Rolph Pfundt
- , Barry Wolf
- , Petr Jira
- , Swaroop Aradhya
- , Pawel Stankiewicz
- , Han G Brunner
- , Orsetta Zuffardi
- , Scott B Selleck
- , James R Lupski
- & Bert B A de Vries
