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Showing 1–7 of 7 results
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Research |
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
- Dong Li
- , Alanna Strong
- , Kaitlyn M. Shen
- , David Cassiman
- , Maria Van Dyck
- , Natalia Duarte Linhares
- , Eugenia Ribeiro Valadares
- , Tiancheng Wang
- , Sergio D. J. Pena
- , Jaak Jaeken
- , Samantha Vergano
- , Elaine Zackai
- , Anne Hing
- , Penny Chow
- , Arupa Ganguly
- , Tasja Scholz
- , Tatjana Bierhals
- , Deindl Philipp
- , Hakon Hakonarson
- & Elizabeth Bhoj
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Amendments and Corrections |
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data
- Kristin McDonald Gibson
- , Addie Nesbitt
- , Kajia Cao
- , Zhenming Yu
- , Elizabeth Denenberg
- , Elizabeth DeChene
- , Qiaoning Guan
- , Elizabeth Bhoj
- , Xiangdong Zhou
- , Bo Zhang
- , Chao Wu
- , Holly Dubbs
- , Alisha Wilkens
- , Livija Medne
- , Emma Bedoukian
- , Peter S White
- , Jeffrey Pennington
- , Minjie Luo
- , Laura Conlin
- , Dimitri Monos
- , Mahdi Sarmady
- , Eric Marsh
- , Elaine Zackai
- , Nancy Spinner
- , Ian Krantz
- , Matt Deardorff
- & Avni Santani
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Research |
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
- Theodore G. Drivas
- , Dong Li
- , Divya Nair
- , Joseph T. Alaimo
- , Mariëlle Alders
- , Janine Altmüller
- , Tahsin Stefan Barakat
- , E. Martina Bebin
- , Nicole L. Bertsch
- , Patrick R. Blackburn
- , Alyssa Blesson
- , Arjan M. Bouman
- , Knut Brockmann
- , Perrine Brunelle
- , Margit Burmeister
- , Gregory M. Cooper
- , Jonas Denecke
- , Anne Dieux-Coëslier
- , Holly Dubbs
- , Alejandro Ferrer
- , Danna Gal
- , Lauren E. Bartik
- , Lauren B. Gunderson
- , Linda Hasadsri
- , Mahim Jain
- , Catherine Karimov
- , Beth Keena
- , Eric W. Klee
- , Katja Kloth
- , Baiba Lace
- , Marina Macchiaiolo
- , Julien L. Marcadier
- , Jeff M. Milunsky
- , Melanie P. Napier
- , Xilma R. Ortiz-Gonzalez
- , Pavel N. Pichurin
- , Jason Pinner
- , Zoe Powis
- , Chitra Prasad
- , Francesca Clementina Radio
- , Kristen J. Rasmussen
- , Deborah L. Renaud
- , Eric T. Rush
- , Carol Saunders
- , Duygu Selcen
- , Ann R. Seman
- , Deepali N. Shinde
- , Erica D. Smith
- , Thomas Smol
- , Lot Snijders Blok
- , Joan M. Stoler
- , Sha Tang
- , Marco Tartaglia
- , Michelle L. Thompson
- , Jiddeke M. van de Kamp
- , Jingmin Wang
- , Dagmar Weise
- , Karin Weiss
- , Rixa Woitschach
- , Bernd Wollnik
- , Huifang Yan
- , Elaine H. Zackai
- , Giuseppe Zampino
- , Philippe Campeau
- & Elizabeth Bhoj
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Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data
- Kristin McDonald Gibson
- , Addie Nesbitt
- , Kajia Cao
- , Zhenming Yu
- , Elizabeth Denenberg
- , Elizabeth DeChene
- , Qiaoning Guan
- , Elizabeth Bhoj
- , Xiangdong Zhou
- , Bo Zhang
- , Chao Wu
- , Holly Dubbs
- , Alisha Wilkens
- , Livija Medne
- , Emma Bedoukian
- , Peter S White
- , Jeffrey Pennington
- , Minjie Lou
- , Laura Conlin
- , Dimitri Monos
- , Mahdi Sarmady
- , Eric Marsh
- , Elaine Zackai
- , Nancy Spinner
- , Ian Krantz
- , Matt Deardorff
- & Avni Santani
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Amendments and Corrections |
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data
- Kristin McDonald Gibson
- , Addie Nesbitt
- , Kajia Cao
- , Zhenming Yu
- , Elizabeth Denenberg
- , Elizabeth DeChene
- , Qiaoning Guan
- , Elizabeth Bhoj
- , Xiangdong Zhou
- , Bo Zhang
- , Chao Wu
- , Holly Dubbs
- , Alisha Wilkens
- , Livija Medne
- , Emma Bedoukian
- , Peter S White
- , Jeffrey Pennington
- , Minjie Lou
- , Laura Conlin
- , Dimitri Monos
- , Mahdi Sarmady
- , Eric Marsh
- , Elaine Zackai
- , Nancy Spinner
- , Ian Krantz
- , Matt Deardorff
- & Avni Santani
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Research |
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
- Li Xin Zhang
- , Gabrielle Lemire
- , Claudia Gonzaga-Jauregui
- , Sirinart Molidperee
- , Carolina Galaz-Montoya
- , David S. Liu
- , Alain Verloes
- , Amelle G. Shillington
- , Kosuke Izumi
- , Alyssa L. Ritter
- , Beth Keena
- , Elaine Zackai
- , Dong Li
- , Elizabeth Bhoj
- , Jennifer M. Tarpinian
- , Emma Bedoukian
- , Mary K. Kukolich
- , A. Micheil Innes
- , Grace U. Ediae
- , Sarah L. Sawyer
- , Karippoth Mohandas Nair
- , Para Chottil Soumya
- , Kinattinkara R. Subbaraman
- , Frank J. Probst
- , Jennifer A. Bassetti
- , Reid V. Sutton
- , Richard A. Gibbs
- , Chester Brown
- , Philip M. Boone
- , Ingrid A. Holm
- , Marco Tartaglia
- , Giovanni Battista Ferrero
- , Marcello Niceta
- , Maria Lisa Dentici
- , Francesca Clementina Radio
- , Boris Keren
- , Constance F. Wells
- , Christine Coubes
- , Annie Laquerrière
- , Jacqueline Aziza
- , Charlotte Dubucs
- , Sheela Nampoothiri
- , David Mowat
- , Millan S. Patel
- , Ana Bracho
- , Francisco Cammarata-Scalisi
- , Alper Gezdirici
- , Alberto Fernandez-Jaen
- , Natalie Hauser
- , Yuri A. Zarate
- , Katherine A. Bosanko
- , Klaus Dieterich
- , John C. Carey
- , Jessica X. Chong
- , Deborah A. Nickerson
- , Michael J. Bamshad
- , Brendan H. Lee
- , Xiang-Jiao Yang
- , James R. Lupski
- & Philippe M. Campeau
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Research |
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature
- Sophie Nambot
- , Laurence Faivre
- , Ghayda Mirzaa
- , Julien Thevenon
- , Ange-Line Bruel
- , Anne-Laure Mosca-Boidron
- , Alice Masurel-Paulet
- , Alice Goldenberg
- , Nathalie Le Meur
- , Aude Charollais
- , Cyril Mignot
- , Florence Petit
- , Massimiliano Rossi
- , Julia Metreau
- , Valérie Layet
- , Daniel Amram
- , Odile Boute-Bénéjean
- , Elizabeth Bhoj
- , Margot A. Cousin
- , Teresa M. Kruisselbrink
- , Brendan C. Lanpher
- , Eric W. Klee
- , Elise Fiala
- , Dorothy K. Grange
- , Wendy S. Meschino
- , Susan M. Hiatt
- , Gregory M. Cooper
- , Hilde Olivié
- , Wendy E. Smith
- , Meghan Dumas
- , Anna Lehman
- , Shelin Adam
- , Christèle du Souich
- , Alison M. Elliott
- , Anna Lehman
- , Jill Mwenifumbo
- , Tanya N. Nelson
- , Clara van Karnebeek
- , Jan M. Friedman
- , Cara Inglese
- , Mathilde Nizon
- , Renzo Guerrini
- , Annalisa Vetro
- , Eitan S. Kaplan
- , Dolores Miramar
- , Julien Van Gils
- , Patricia Fergelot
- , Olaf Bodamer
- , Johanna C. Herkert
- , Sander Pajusalu
- , Katrin Õunap
- , James J. Filiano
- , Thomas Smol
- , Amélie Piton
- , Bénédicte Gérard
- , Sandra Chantot-Bastaraud
- , Thierry Bienvenu
- , Dong Li
- , Jane Juusola
- , Koen Devriendt
- , Frederic Bilan
- , Charlotte Poé
- , Martin Chevarin
- , Thibaud Jouan
- , Emilie Tisserant
- , Jean-Baptiste Rivière
- , Frédéric Tran Mau-Them
- , Christophe Philippe
- , Yannis Duffourd
- , William B. Dobyns
- , Robert Hevner
- & Christel Thauvin-Robinet
