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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 |
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
- Peter M Krawitz
- , Michal R Schweiger
- , Christian Rödelsperger
- , Carlo Marcelis
- , Uwe Kölsch
- , Christian Meisel
- , Friederike Stephani
- , Taroh Kinoshita
- , Yoshiko Murakami
- , Sebastian Bauer
- , Melanie Isau
- , Axel Fischer
- , Andreas Dahl
- , Martin Kerick
- , Jochen Hecht
- , Sebastian Köhler
- , Marten Jäger
- , Johannes Grünhagen
- , Birgit Jonske de Condor
- , Sandra Doelken
- , Han G Brunner
- , Peter Meinecke
- , Eberhard Passarge
- , Miles D Thompson
- , David E Cole
- , Denise Horn
- , Tony Roscioli
- , Stefan Mundlos
- & Peter N Robinson
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Amendments and Corrections |
Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
- Kristien P Hoornaert
- , Inge Vereecke
- , Chantal Dewinter
- , Thomas Rosenberg
- , Frits A Beemer
- , Jules G Leroy
- , Laila Bendix
- , Erik Björck
- , Maryse Bonduelle
- , Odile Boute
- , Valerie Cormier-Daire
- , Christine De Die-Smulders
- , Anne Dieux-Coeslier
- , Hélène Dollfus
- , Mariet Elting
- , Andrew Green
- , Veronica I Guerci
- , Raoul CM Hennekam
- , Yvonne Hilhorts-Hofstee
- , Muriel Holder
- , Carel Hoyng
- , Kristi J Jones
- , Dragana Josifova
- , Ilkka Kaitila
- , Suzanne Kjaergaard
- , Yolande H Kroes
- , Kristina Lagerstedt
- , Melissa Lees
- , Martine LeMerrer
- , Cinzia Magnani
- , Carlo Marcelis
- , Loreto Martorell
- , Michèle Mathieu
- , Meriel McEntagart
- , Angela Mendicino
- , Jenny Morton
- , Gabrielli Orazio
- , Véronique Paquis
- , Orit Reish
- , Kalle OJ Simola
- , Sarah F Smithson
- , Karen I Temple
- , Elisabeth Van Aken
- , Yolande Van Bever
- , Jenneke van den Ende
- , Johanna M Van Hagen
- , Leopoldo Zelante
- , Riina Zordania
- , Anne De Paepe
- , Bart P Leroy
- , Marc De Buyzere
- , Paul J Coucke
- & Geert R Mortier
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Research |
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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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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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Research | | Open
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development
- Rong Zhang
- , Michael Knapp
- , Kentaro Suzuki
- , Daiki Kajioka
- , Johanna M. Schmidt
- , Jonas Winkler
- , Öznur Yilmaz
- , Michael Pleschka
- , Jia Cao
- , Christina Clementson Kockum
- , Gillian Barker
- , Gundela Holmdahl
- , Glenda Beaman
- , David Keene
- , Adrian S. Woolf
- , Raimondo M. Cervellione
- , Wei Cheng
- , Simon Wilkins
- , John P. Gearhart
- , Fabio Sirchia
- , Massimo Di Grazia
- , Anne-Karolin Ebert
- , Wolfgang Rösch
- , Jörg Ellinger
- , Ekkehart Jenetzky
- , Nadine Zwink
- , Wout F. Feitz
- , Carlo Marcelis
- , Johannes Schumacher
- , Federico Martinón-Torres
- , Martin Lloyd Hibberd
- , Chiea Chuen Khor
- , Stefanie Heilmann-Heimbach
- , Sandra Barth
- , Simeon A. Boyadjiev
- , Alfredo Brusco
- , Michael Ludwig
- , William Newman
- , Agneta Nordenskjöld
- , Gen Yamada
- , Benjamin Odermatt
- & Heiko Reutter
-
Research |
Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
- Kristien P Hoornaert
- , Inge Vereecke
- , Chantal Dewinter
- , Thomas Rosenberg
- , Frits A Beemer
- , Jules G Leroy
- , Laila Bendix
- , Erik Björck
- , Maryse Bonduelle
- , Odile Boute
- , Valerie Cormier-Daire
- , Christine De Die-Smulders
- , Anne Dieux-Coeslier
- , Hélène Dollfus
- , Mariet Elting
- , Andrew Green
- , Veronica I Guerci
- , Raoul C M Hennekam
- , Yvonne Hilhorts-Hofstee
- , Muriel Holder
- , Carel Hoyng
- , Kristi J Jones
- , Dragana Josifova
- , Ilkka Kaitila
- , Suzanne Kjaergaard
- , Yolande H Kroes
- , Kristina Lagerstedt
- , Melissa Lees
- , Martine LeMerrer
- , Cinzia Magnani
- , Carlo Marcelis
- , Loreto Martorell
- , Michèle Mathieu
- , Meriel McEntagart
- , Angela Mendicino
- , Jenny Morton
- , Gabrielli Orazio
- , Véronique Paquis
- , Orit Reish
- , Kalle O J Simola
- , Sarah F Smithson
- , Karen I Temple
- , Elisabeth Van Aken
- , Yolande Van Bever
- , Jenneke van den Ende
- , Johanna M Van Hagen
- , Leopoldo Zelante
- , Riina Zordania
- , Anne De Paepe
- , Bart P Leroy
- , Marc De Buyzere
- , Paul J Coucke
- & Geert R Mortier
