Showing 1–23 of 23 results
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Amendments and Corrections |
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
- Christine Shieh
- , Natasha Jones
- , Brigitte Vanle
- , Margaret Au
- , Alden Y. Huang
- , Ana P. G. Silva
- , Hane Lee
- , Emilie D. Douine
- , Maria G. Otero
- , Andrew Choi
- , Katheryn Grand
- , Ingrid P. Taff
- , Mauricio R. Delgado
- , M. J. Hajianpour
- , Andrea Seeley
- , Luis Rohena
- , Hilary Vernon
- , Karen W. Gripp
- , Samantha A. Vergano
- , Sonal Mahida
- , Sakkubai Naidu
- , Ana Berta Sousa
- , Karen E. Wain
- , Thomas D. Challman
- , Geoffrey Beek
- , Donald Basel
- , Judith Ranells
- , Rosemarie Smith
- , Roman Yusupov
- , Mary-Louise Freckmann
- , Lisa Ohden
- , Laura Davis-Keppen
- , David Chitayat
- , James J. Dowling
- , Richard Finkel
- , Andrew Dauber
- , Rebecca Spillmann
- , Loren D. M. Pena
- , Kay Metcalfe
- , Miranda Splitt
- , Katherine Lachlan
- , Shane A. McKee
- , Jane Hurst
- , David R. Fitzpatrick
- , Jenny E. V. Morton
- , Helen Cox
- , Sunita Venkateswaran
- , Juan I. Young
- , Eric D. Marsh
- , Stanley F. Nelson
- , Julian A. Martinez
- , John M. Graham Jr
- , Usha Kini
- , Joel P. Mackay
- & Tyler Mark Pierson
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Correspondence |
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Research |
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Research | | Open
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy
- Yu-Ri Lee
- , Kamal Khan
- , Kim Armfield-Uhas
- , Sujata Srikanth
- , Nicola A. Thompson
- , Mercedes Pardo
- , Lu Yu
- , Joy W. Norris
- , Yunhui Peng
- , Karen W. Gripp
- , Kirk A. Aleck
- , Chumei Li
- , Ed Spence
- , Tae-Ik Choi
- , Soo Jeong Kwon
- , Hee-Moon Park
- , Daseuli Yu
- , Won Do Heo
- , Marie R. Mooney
- , Shahid M. Baig
- , Ingrid M. Wentzensen
- , Aida Telegrafi
- , Kirsty McWalter
- , Trevor Moreland
- , Chelsea Roadhouse
- , Keri Ramsey
- , Michael J. Lyons
- , Cindy Skinner
- , Emil Alexov
- , Nicholas Katsanis
- , Roger E. Stevenson
- , Jyoti S. Choudhary
- , David J. Adams
- , Cheol-Hee Kim
- , Erica E. Davis
- & Charles E. Schwartz
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Research |
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Research |
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Research |
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Research |
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Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure
- Surabhi Mulchandani
- , Elizabeth J. Bhoj
- , Minjie Luo
- , Nina Powell-Hamilton
- , Kim Jenny
- , Karen W. Gripp
- , Miriam Elbracht
- , Thomas Eggermann
- , Claire L. S. Turner
- , I. Karen Temple
- , Deborah J. G. Mackay
- , Holly Dubbs
- , David A. Stevenson
- , Leah Slattery
- , Elaine H. Zackai
- , Nancy B. Spinner
- , Ian D. Krantz
- & Laura K. Conlin
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Research |
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Research |
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Research |
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
- Christine Shieh
- , Natasha Jones
- , Brigitte Vanle
- , Margaret Au
- , Alden Y. Huang
- , Ana P. G. Silva
- , Hane Lee
- , Emilie D. Douine
- , Maria G. Otero
- , Andrew Choi
- , Katheryn Grand
- , Ingrid P. Taff
- , Mauricio R. Delgado
- , M. J. Hajianpour
- , Andrea Seeley
- , Luis Rohena
- , Hilary Vernon
- , Karen W. Gripp
- , Samantha A. Vergano
- , Sonal Mahida
- , Sakkubai Naidu
- , Ana Berta Sousa
- , Karen E. Wain
- , Thomas D. Challman
- , Geoffrey Beek
- , Donald Basel
- , Judith Ranells
- , Rosemarie Smith
- , Roman Yusupov
- , Mary-Louise Freckmann
- , Lisa Ohden
- , Laura Davis-Keppen
- , David Chitayat
- , James J. Dowling
- , Richard Finkel
- , Andrew Dauber
- , Rebecca Spillmann
- , Loren D. M. Pena
- , Kay Metcalfe
- , Miranda Splitt
- , Katherine Lachlan
- , Shane A. McKee
- , Jane Hurst
- , David R. Fitzpatrick
- , Jenny E. V. Morton
- , Helen Cox
- , Sunita Venkateswaran
- , Juan I. Young
- , Eric D. Marsh
- , Stanley F. Nelson
- , Julian A. Martinez
- , John M. Graham Jr
- , Usha Kini
- , Joel P. Mackay
- & Tyler Mark Pierson
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Research |
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
- Ghayda M. Mirzaa
- , Jessica X. Chong
- , Amélie Piton
- , Bernt Popp
- , Kimberly Foss
- , Hui Guo
- , Ricardo Harripaul
- , Kun Xia
- , Joshua Scheck
- , Kimberly A. Aldinger
- , Samin A. Sajan
- , Sha Tang
- , Dominique Bonneau
- , Anita Beck
- , Janson White
- , Sonal Mahida
- , Jacqueline Harris
- , Constance Smith-Hicks
- , Juliane Hoyer
- , Christiane Zweier
- , André Reis
- , Christian T. Thiel
- , Rami Abou Jamra
- , Natasha Zeid
- , Amy Yang
- , Laura S. Farach
- , Laurence Walsh
- , Katelyn Payne
- , Luis Rohena
- , Milen Velinov
- , Alban Ziegler
- , Elise Schaefer
- , Vincent Gatinois
- , David Geneviève
- , Marleen E. H. Simon
- , Jennefer Kohler
- , Joshua Rotenberg
- , Patricia Wheeler
- , Austin Larson
- , Michelle E. Ernst
- , Cigdem I. Akman
- , Rachel Westman
- , Patricia Blanchet
- , Lori-Anne Schillaci
- , Catherine Vincent-Delorme
- , Karen W. Gripp
- , Francesca Mattioli
- , Gwenaël Le Guyader
- , Bénédicte Gerard
- , Michèle Mathieu-Dramard
- , Gilles Morin
- , Roksana Sasanfar
- , Muhammad Ayub
- , Nasim Vasli
- , Sandra Yang
- , Rick Person
- , Kristin G. Monaghan
- , Deborah A. Nickerson
- , Ellen van Binsbergen
- , Gregory M. Enns
- , Annika M. Dries
- , Leah J. Rowe
- , Anne C. H. Tsai
- , Shayna Svihovec
- , Jennifer Friedman
- , Zehra Agha
- , Raheel Qamar
- , Lance H. Rodan
- , Julian Martinez-Agosto
- , Charlotte W. Ockeloen
- , Marie Vincent
- , William James Sunderland
- , Jonathan A. Bernstein
- , Evan E. Eichler
- , John B. Vincent
- & Michael J. Bamshad
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Research | | Open
PEDIA: prioritization of exome data by image analysis
- Tzung-Chien Hsieh
- , Martin A. Mensah
- , Jean T. Pantel
- , Dione Aguilar
- , Omri Bar
- , Allan Bayat
- , Luis Becerra-Solano
- , Heidi B. Bentzen
- , Saskia Biskup
- , Oleg Borisov
- , Oivind Braaten
- , Claudia Ciaccio
- , Marie Coutelier
- , Kirsten Cremer
- , Magdalena Danyel
- , Svenja Daschkey
- , Hilda David Eden
- , Koenraad Devriendt
- , Sandra Wilson
- , Sofia Douzgou
- , Dejan Đukić
- , Nadja Ehmke
- , Christine Fauth
- , Björn Fischer-Zirnsak
- , Nicole Fleischer
- , Heinz Gabriel
- , Luitgard Graul-Neumann
- , Karen W. Gripp
- , Yaron Gurovich
- , Asya Gusina
- , Nechama Haddad
- , Nurulhuda Hajjir
- , Yair Hanani
- , Jakob Hertzberg
- , Konstanze Hoertnagel
- , Janelle Howell
- , Ivan Ivanovski
- , Angela Kaindl
- , Tom Kamphans
- , Susanne Kamphausen
- , Catherine Karimov
- , Hadil Kathom
- , Anna Keryan
- , Alexej Knaus
- , Sebastian Köhler
- , Uwe Kornak
- , Alexander Lavrov
- , Maximilian Leitheiser
- , Gholson J. Lyon
- , Elisabeth Mangold
- , Purificación Marín Reina
- , Antonio Martinez Carrascal
- , Diana Mitter
- , Laura Morlan Herrador
- , Guy Nadav
- , Markus Nöthen
- , Alfredo Orrico
- , Claus-Eric Ott
- , Kristen Park
- , Borut Peterlin
- , Laura Pölsler
- , Annick Raas-Rothschild
- , Linda Randolph
- , Nicole Revencu
- , Christina Ringmann Fagerberg
- , Peter Nick Robinson
- , Stanislav Rosnev
- , Sabine Rudnik
- , Gorazd Rudolf
- , Ulrich Schatz
- , Anna Schossig
- , Max Schubach
- , Or Shanoon
- , Eamonn Sheridan
- , Pola Smirin-Yosef
- , Malte Spielmann
- , Eun-Kyung Suk
- , Yves Sznajer
- , Christian T. Thiel
- , Gundula Thiel
- , Alain Verloes
- , Irena Vrecar
- , Dagmar Wahl
- , Ingrid Weber
- , Korina Winter
- , Marzena Wiśniewska
- , Bernd Wollnik
- , Ming W. Yeung
- , Max Zhao
- , Na Zhu
- , Johannes Zschocke
- , Stefan Mundlos
- , Denise Horn
- & Peter M. Krawitz
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Research |
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Research |
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
- Suzanna G. M. Frints
- , Aysegul Ozanturk
- , Germán Rodríguez Criado
- , Ute Grasshoff
- , Bas de Hoon
- , Michael Field
- , Sylvie Manouvrier-Hanu
- , Scott E. Hickey
- , Molka Kammoun
- , Karen W. Gripp
- , Claudia Bauer
- , Christopher Schroeder
- , Annick Toutain
- , Theresa Mihalic Mosher
- , Benjamin J. Kelly
- , Peter White
- , Andreas Dufke
- , Eveline Rentmeester
- , Sungjin Moon
- , Daniel C Koboldt
- , Kees E. P. van Roozendaal
- , Hao Hu
- , Stefan A. Haas
- , Hans-Hilger Ropers
- , Lucinda Murray
- , Eric Haan
- , Marie Shaw
- , Renee Carroll
- , Kathryn Friend
- , Jan Liebelt
- , Lynne Hobson
- , Marjan De Rademaeker
- , Joep Geraedts
- , Jean-Pierre Fryns
- , Joris Vermeesch
- , Martine Raynaud
- , Olaf Riess
- , Joost Gribnau
- , Nicholas Katsanis
- , Koen Devriendt
- , Peter Bauer
- , Jozef Gecz
- , Christelle Golzio
- , Cristina Gontan
- & Vera M. Kalscheuer
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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 |
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
- Ghayda M Mirzaa
- , David A Parry
- , Andrew E Fry
- , Kristin A Giamanco
- , Jeremy Schwartzentruber
- , Megan Vanstone
- , Clare V Logan
- , Nicola Roberts
- , Colin A Johnson
- , Shawn Singh
- , Stanislav S Kholmanskikh
- , Carissa Adams
- , Rebecca D Hodge
- , Robert F Hevner
- , David T Bonthron
- , Kees P J Braun
- , Laurence Faivre
- , Jean-Baptiste Rivière
- , Judith St-Onge
- , Karen W Gripp
- , Grazia M S Mancini
- , Ki Pang
- , Elizabeth Sweeney
- , Hilde van Esch
- , Nienke Verbeek
- , Dagmar Wieczorek
- , Michelle Steinraths
- , Jacek Majewski
- , Kym M Boycott
- , Daniela T Pilz
- , M Elizabeth Ross
- , William B Dobyns
- & Eamonn G Sheridan
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Research |
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome
- Julián Nevado
- , Jill A Rosenfeld
- , Rocío Mena
- , María Palomares-Bralo
- , Elena Vallespín
- , María Ángeles Mori
- , Jair A Tenorio
- , Karen W Gripp
- , Elizabeth Denenberg
- , Miguel del Campo
- , Alberto Plaja
- , Rubén Martín-Arenas
- , Fernando Santos-Simarro
- , Lluis Armengol
- , Gordon Gowans
- , María Orera
- , M Carmen Sanchez-Hombre
- , Esther Corbacho-Fernández
- , Alberto Fernández-Jaén
- , Chad Haldeman-Englert
- , Sulagna Saitta
- , Holly Dubbs
- , Duban B Bénédicte
- , Xia Li
- , Lani Devaney
- , Mary Beth Dinulos
- , Stephanie Vallee
- , M Carmen Crespo
- , Blanca Fernández
- , Victoria E Fernández-Montaño
- , Inmaculada Rueda-Arenas
- , María Luisa de Torres
- , Jay W Ellison
- , Salmo Raskin
- , Carlos A Venegas-Vega
- , Fernando Fernández-Ramírez
- , Alicia Delicado
- , Sixto García-Miñaúr
- & Pablo Lapunzina
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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 |
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
- Jean-Baptiste Rivière
- , Ghayda M Mirzaa
- , Brian J O'Roak
- , Margaret Beddaoui
- , Diana Alcantara
- , Robert L Conway
- , Judith St-Onge
- , Jeremy A Schwartzentruber
- , Karen W Gripp
- , Sarah M Nikkel
- , Thea Worthylake
- , Christopher T Sullivan
- , Thomas R Ward
- , Hailly E Butler
- , Nancy A Kramer
- , Beate Albrecht
- , Christine M Armour
- , Linlea Armstrong
- , Oana Caluseriu
- , Cheryl Cytrynbaum
- , Beth A Drolet
- , A Micheil Innes
- , Julie L Lauzon
- , Angela E Lin
- , Grazia M S Mancini
- , Wendy S Meschino
- , James D Reggin
- , Anand K Saggar
- , Tally Lerman-Sagie
- , Gökhan Uyanik
- , Rosanna Weksberg
- , Birgit Zirn
- , Chandree L Beaulieu
- , Jacek Majewski
- , Dennis E Bulman
- , Mark O'Driscoll
- , Jay Shendure
- , John M Graham Jr
- , Kym M Boycott
- & William B Dobyns
