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Research | | Open
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
- Theresa Brunet
- , Kirsty McWalter
- , Katharina Mayerhanser
- , Grace M. Anbouba
- , Amy Armstrong-Javors
- , Ingrid Bader
- , Evan Baugh
- , Amber Begtrup
- , Caleb P. Bupp
- , Bert L. Callewaert
- , Anna Cereda
- , Margot A. Cousin
- , Juan C. Del Rey Jimenez
- , Laurie Demmer
- , Nikita R. Dsouza
- , Nicole Fleischer
- , Ralitza H. Gavrilova
- , Sumedha Ghate
- , Elisabeth Graf
- , Andrew Green
- , Sarah R. Green
- , Maria Iascone
- , Ameni Kdissa
- , Dirk Klee
- , Eric W. Klee
- , Emily Lancaster
- , Kristin Lindstrom
- , Johannes A. Mayr
- , Meriel McEntagart
- , Naomi J. L. Meeks
- , Dana Mittag
- , Harrison Moore
- , Anne K. Olsen
- , Damara Ortiz
- , Gretchen Parsons
- , Loren D. M. Pena
- , Richard E. Person
- , Sumit Punj
- , Gonzalo Alonso Ramos-Rivera
- , Maria J. Guillen Sacoto
- , G. Bradley Schaefer
- , Rhonda E. Schnur
- , Tiana M. Scott
- , Daryl A. Scott
- , Carolyn R. Serbinski
- , Vandana Shashi
- , Victoria M. Siu
- , Barbro Fossøy Stadheim
- , Jennifer A. Sullivan
- , Jana Švantnerová
- , Lea Velsher
- , David S. Wargowski
- , Ingrid M. Wentzensen
- , Dagmar Wieczorek
- , Juliane Winkelmann
- , Patrick Yap
- , Michael Zech
- , Michael T. Zimmermann
- , Thomas Meitinger
- , Felix Distelmaier
- & Matias Wagner
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Research |
Impact of integrated translational research on clinical exome sequencing
- Eric W. Klee
- , Margot A. Cousin
- , Filippo Pinto e Vairo
- , Joel A. Morales-Rosado
- , Erica L. Macke
- , W. Garrett Jenkinson
- , Alejandro Ferrer
- , Laura E. Schultz-Rogers
- , Rory J. Olson
- , Gavin R. Oliver
- , Ashley N. Sigafoos
- , Tanya L. Schwab
- , Michael T. Zimmermann
- , Raul A. Urrutia
- , Charu Kaiwar
- , Aditi Gupta
- , Patrick R. Blackburn
- , Nicole J. Boczek
- , Carri A. Prochnow
- , Rebecca J. Lowy
- , Lindsay A. Mulvihill
- , Tammy M. McAllister
- , Stacy L. Aoudia
- , Teresa M. Kruisselbrink
- , Lauren B. Gunderson
- , Jennifer L. Kemppainen
- , Laura J. Fisher
- , Jessica M. Tarnowski
- , Megan M. Hager
- , Sarah A. Kroc
- , Nicole L. Bertsch
- , Katherine E. Agre
- , Jessica L. Jackson
- , Sarah K. Macklin-Mantia
- , Marine I. Murphree
- , Laura M. Rust
- , Jolene M. Summer Bolster
- , Scott A. Beck
- , Paldeep S. Atwal
- , Marissa S. Ellingson
- , Sarah S. Barnett
- , Kristen J. Rasmussen
- , Carrie A. Lahner
- , Zhiyv Niu
- , Linda Hasadsri
- , Matthew J. Ferber
- , Cherisse A. Marcou
- , Karl J. Clark
- , Pavel N. Pichurin
- , David R. Deyle
- , Eva Morava-Kozicz
- , Ralitza H. Gavrilova
- , Radhika Dhamija
- , Klaas J. Wierenga
- , Brendan C. Lanpher
- , Dusica Babovic-Vuksanovic
- , Gianrico Farrugia
- , Lisa A. Schimmenti
- , A. Keith Stewart
- & Konstantinos N. Lazaridis
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Amendments and Corrections |
Correction: Arterial tortuosity syndrome: 40 new families and literature review
- Aude Beyens
- , Juliette Albuisson
- , Annekatrien Boel
- , Mazen Al-Essa
- , Waheed Al-Manea
- , Damien Bonnet
- , Ozlem Bostan
- , Odile Boute
- , Tiffany Busa
- , Nathalie Canham
- , Ergun Cil
- , Paul J. Coucke
- , Margot A. Cousin
- , Majed Dasouki
- , Julie De Backer
- , Anne De Paepe
- , Sofie De Schepper
- , Deepthi De Silva
- , Koenraad Devriendt
- , Inge De Wandele
- , David R. Deyle
- , Harry Dietz
- , Sophie Dupuis-Girod
- , Eudice Fontenot
- , Björn Fischer-Zirnsak
- , Alper Gezdirici
- , Jamal Ghoumid
- , Fabienne Giuliano
- , Neus Baena
- , Mohammed Z. Haider
- , Joshua S. Hardin
- , Xavier Jeunemaitre
- , Eric W. Klee
- , Uwe Kornak
- , Manuel F. Landecho
- , Anne Legrand
- , Bart Loeys
- , Stanislas Lyonnet
- , Helen Michael
- , Pamela Moceri
- , Shehla Mohammed
- , Laura Muiño-Mosquera
- , Sheela Nampoothiri
- , Karin Pichler
- , Katrina Prescott
- , Anna Rajeb
- , Maria Ramos-Arroyo
- , Massimiliano Rossi
- , Mustafa Salih
- , Mohammed Z. Seidahmed
- , Elise Schaefer
- , Elisabeth Steichen-Gersdorf
- , Sehime Temel
- , Fahrettin Uysal
- , Marine Vanhomwegen
- , Lut Van Laer
- , Lionel Van Maldergem
- , David Warner
- , Andy Willaert
- , Tom R. Collins II
- , Andrea Taylor
- , Elaine C. Davis
- , Yuri Zarate
- & Bert Callewaert
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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
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Research |
Variants in DOCK3 cause developmental delay and hypotonia
- Kimberly Wiltrout
- , Alejandro Ferrer
- , Ingrid van de Laar
- , Kazuhiko Namekata
- , Takayuki Harada
- , Eric W. Klee
- , Michael T. Zimmerman
- , Margot A. Cousin
- , Jennifer L. Kempainen
- , Dusica Babovic-Vuksanovic
- , Marjon A. van Slegtenhorst
- , Coranne D. Aarts-Tesselaar
- , Rhonda E. Schnur
- , Marisa Andrews
- & Marwan Shinawi
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Research |
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Research |
Arterial tortuosity syndrome: 40 new families and literature review
- Aude Beyens
- , Juliette Albuisson
- , Annekatrien Boel
- , Mazen Al-Essa
- , Waheed Al-Manea
- , Damien Bonnet
- , Ozlem Bostan
- , Odile Boute
- , Tiffany Busa
- , Nathalie Canham
- , Ergun Cil
- , Paul J Coucke
- , Margot A Cousin
- , Majed Dasouki
- , Julie De Backer
- , Anne De Paepe
- , Sofie De Schepper
- , Deepthi De Silva
- , Koenraad Devriendt
- , Inge De Wandele
- , David R Deyle
- , Harry Dietz
- , Sophie Dupuis-Girod
- , Eudice Fontenot
- , Björn Fischer-Zirnsak
- , Alper Gezdirici
- , Jamal Ghoumid
- , Fabienne Giuliano
- , Neus Baena Diéz
- , Mohammed Z Haider
- , Joshua S Hardin
- , Xavier Jeunemaitre
- , Eric W Klee
- , Uwe Kornak
- , Manuel F Landecho
- , Anne Legrand
- , Bart Loeys
- , Stanislas Lyonnet
- , Helen Michael
- , Pamela Moceri
- , Shehla Mohammed
- , Laura Muiño-Mosquera
- , Sheela Nampoothiri
- , Karin Pichler
- , Katrina Prescott
- , Anna Rajeb
- , Maria Ramos-Arroyo
- , Massimiliano Rossi
- , Mustafa Salih
- , Mohammed Z Seidahmed
- , Elise Schaefer
- , Elisabeth Steichen-Gersdorf
- , Sehime Temel
- , Fahrettin Uysal
- , Marine Vanhomwegen
- , Lut Van Laer
- , Lionel Van Maldergem
- , David Warner
- , Andy Willaert
- , Tom R Collins
- , Andrea Taylor
- , Elaine C Davis
- , Yuri Zarate
- & Bert Callewaert
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Research |
Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans
- Hsiang-Chih Lu
- , Qiumin Tan
- , Maxime W C Rousseaux
- , Wei Wang
- , Ji-Yoen Kim
- , Ronald Richman
- , Ying-Wooi Wan
- , Szu-Ying Yeh
- , Jay M Patel
- , Xiuyun Liu
- , Tao Lin
- , Yoontae Lee
- , John D Fryer
- , Jing Han
- , Maria Chahrour
- , Richard H Finnell
- , Yunping Lei
- , Maria E Zurita-Jimenez
- , Priyanka Ahimaz
- , Kwame Anyane-Yeboa
- , Lionel Van Maldergem
- , Daphne Lehalle
- , Nolwenn Jean-Marcais
- , Anne-Laure Mosca-Boidron
- , Julien Thevenon
- , Margot A Cousin
- , Della E Bro
- , Brendan C Lanpher
- , Eric W Klee
- , Nora Alexander
- , Matthew N Bainbridge
- , Harry T Orr
- , Roy V Sillitoe
- , M Cecilia Ljungberg
- , Zhandong Liu
- , Christian P Schaaf
- & Huda Y Zoghbi
