Showing 1–18 of 18 results
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Amendments and Corrections |
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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 |
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
- Christina Lissewski
- , Valérie Chune
- , Francesca Pantaleoni
- , Alessandro De Luca
- , Yline Capri
- , Julia Brinkmann
- , Francesca Lepri
- , Paola Daniele
- , Erika Leenders
- , Laura Mazzanti
- , Emanuela Scarano
- , Francesca Clementina Radio
- , Kerstin Kutsche
- , Alma Kuechler
- , Marion Gérard
- , Kara Ranguin
- , Marine Legendre
- , Yoann Vial
- , Ineke van der Burgt
- , Tuula Rinne
- , Elena Andreucci
- , Gioia Mastromoro
- , Maria Cristina Digilio
- , Hélène Cave
- , Marco Tartaglia
- & Martin Zenker
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Correspondence |
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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 |
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome
- Lisenka ELM Vissers
- , Monica Bonetti
- , Jeroen Paardekooper Overman
- , Willy M Nillesen
- , Suzanna G M Frints
- , Joep de Ligt
- , Giuseppe Zampino
- , Ana Justino
- , José C Machado
- , Marga Schepens
- , Han G Brunner
- , Joris A Veltman
- , Hans Scheffer
- , Piet Gros
- , José L Costa
- , Marco Tartaglia
- , Ineke van der Burgt
- , Helger G Yntema
- & Jeroen den Hertog
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Research |
Identification of mutations in CUL7 in 3-M syndrome
- Céline Huber
- , Dora Dias-Santagata
- , Anna Glaser
- , James O'Sullivan
- , Raja Brauner
- , Kenneth Wu
- , Xinsong Xu
- , Kerra Pearce
- , Rong Wang
- , Maria Luisa Giovannucci Uzielli
- , Nathalie Dagoneau
- , Wassim Chemaitilly
- , Andrea Superti-Furga
- , Heloisa Dos Santos
- , André Mégarbané
- , Gilles Morin
- , Gabriele Gillessen-Kaesbach
- , Raoul Hennekam
- , Ineke Van der Burgt
- , Graeme C M Black
- , Peter E Clayton
- , Andrew Read
- , Martine Le Merrer
- , Peter J Scambler
- , Arnold Munnich
- , Zhen-Qiang Pan
- , Robin Winter
- & Valérie Cormier-Daire
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Research | | Open
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De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
- M. Felicia Basilicata
- , Ange-Line Bruel
- , Giuseppe Semplicio
- , Claudia Isabelle Keller Valsecchi
- , Tuğçe Aktaş
- , Yannis Duffourd
- , Tobias Rumpf
- , Jenny Morton
- , Iben Bache
- , Witold G. Szymanski
- , Christian Gilissen
- , Olivier Vanakker
- , Katrin Õunap
- , Gerhard Mittler
- , Ineke van der Burgt
- , Salima El Chehadeh
- , Megan T. Cho
- , Rolph Pfundt
- , Tiong Yang Tan
- , Maria Kirchhoff
- , Björn Menten
- , Sarah Vergult
- , Kristin Lindstrom
- , André Reis
- , Diana S. Johnson
- , Alan Fryer
- , Victoria McKay
- , Richard B. Fisher
- , Christel Thauvin-Robinet
- , David Francis
- , Tony Roscioli
- , Sander Pajusalu
- , Kelly Radtke
- , Jaya Ganesh
- , Han G. Brunner
- , Meredith Wilson
- , Laurence Faivre
- , Vera M. Kalscheuer
- , Julien Thevenon
- & Asifa Akhtar
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Research |
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
- Claire Redin
- , Harrison Brand
- , Ryan L Collins
- , Tammy Kammin
- , Elyse Mitchell
- , Jennelle C Hodge
- , Carrie Hanscom
- , Vamsee Pillalamarri
- , Catarina M Seabra
- , Mary-Alice Abbott
- , Omar A Abdul-Rahman
- , Erika Aberg
- , Rhett Adley
- , Sofia L Alcaraz-Estrada
- , Fowzan S Alkuraya
- , Yu An
- , Mary-Anne Anderson
- , Caroline Antolik
- , Kwame Anyane-Yeboa
- , Joan F Atkin
- , Tina Bartell
- , Jonathan A Bernstein
- , Elizabeth Beyer
- , Ian Blumenthal
- , Ernie M H F Bongers
- , Eva H Brilstra
- , Chester W Brown
- , Hennie T Brüggenwirth
- , Bert Callewaert
- , Colby Chiang
- , Ken Corning
- , Helen Cox
- , Edwin Cuppen
- , Benjamin B Currall
- , Tom Cushing
- , Dezso David
- , Matthew A Deardorff
- , Annelies Dheedene
- , Marc D'Hooghe
- , Bert B A de Vries
- , Dawn L Earl
- , Heather L Ferguson
- , Heather Fisher
- , David R FitzPatrick
- , Pamela Gerrol
- , Daniela Giachino
- , Joseph T Glessner
- , Troy Gliem
- , Margo Grady
- , Brett H Graham
- , Cristin Griffis
- , Karen W Gripp
- , Andrea L Gropman
- , Andrea Hanson-Kahn
- , David J Harris
- , Mark A Hayden
- , Rosamund Hill
- , Ron Hochstenbach
- , Jodi D Hoffman
- , Robert J Hopkin
- , Monika W Hubshman
- , A Micheil Innes
- , Mira Irons
- , Melita Irving
- , Jessie C Jacobsen
- , Sandra Janssens
- , Tamison Jewett
- , John P Johnson
- , Marjolijn C Jongmans
- , Stephen G Kahler
- , David A Koolen
- , Jerome Korzelius
- , Peter M Kroisel
- , Yves Lacassie
- , William Lawless
- , Emmanuelle Lemyre
- , Kathleen Leppig
- , Alex V Levin
- , Haibo Li
- , Hong Li
- , Eric C Liao
- , Cynthia Lim
- , Edward J Lose
- , Diane Lucente
- , Michael J Macera
- , Poornima Manavalan
- , Giorgia Mandrile
- , Carlo L Marcelis
- , Lauren Margolin
- , Tamara Mason
- , Diane Masser-Frye
- , Michael W McClellan
- , Cinthya J Zepeda Mendoza
- , Björn Menten
- , Sjors Middelkamp
- , Liya R Mikami
- , Emily Moe
- , Shehla Mohammed
- , Tarja Mononen
- , Megan E Mortenson
- , Graciela Moya
- , Aggie W Nieuwint
- , Zehra Ordulu
- , Sandhya Parkash
- , Susan P Pauker
- , Shahrin Pereira
- , Danielle Perrin
- , Katy Phelan
- , Raul E Piña Aguilar
- , Pino J Poddighe
- , Giulia Pregno
- , Salmo Raskin
- , Linda Reis
- , William Rhead
- , Debra Rita
- , Ivo Renkens
- , Filip Roelens
- , Jayla Ruliera
- , Patrick Rump
- , Samantha L P Schilit
- , Ranad Shaheen
- , Rebecca Sparkes
- , Erica Spiegel
- , Blair Stevens
- , Matthew R Stone
- , Julia Tagoe
- , Joseph V Thakuria
- , Bregje W van Bon
- , Jiddeke van de Kamp
- , Ineke van Der Burgt
- , Ton van Essen
- , Conny M van Ravenswaaij-Arts
- , Markus J van Roosmalen
- , Sarah Vergult
- , Catharina M L Volker-Touw
- , Dorothy P Warburton
- , Matthew J Waterman
- , Susan Wiley
- , Anna Wilson
- , Maria de la Concepcion A Yerena-de Vega
- , Roberto T Zori
- , Brynn Levy
- , Han G Brunner
- , Nicole de Leeuw
- , Wigard P Kloosterman
- , Erik C Thorland
- , Cynthia C Morton
- , James F Gusella
- & Michael E Talkowski
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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 |
