Showing 1–11 of 11 results
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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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Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
- Erin Torti
- , Boris Keren
- , Elizabeth E. Palmer
- , Zehua Zhu
- , Alexandra Afenjar
- , Ilse. J. Anderson
- , Marisa V. Andrews
- , Celia Atkinson
- , Margaret Au
- , Susan A. Berry
- , Kevin M. Bowling
- , Jackie Boyle
- , Julien Buratti
- , Sara S. Cathey
- , Perrine Charles
- , Benjamin Cogne
- , Thomas Courtin
- , Luis F. Escobar
- , Sabra Ledare Finley
- , John M. Graham Jr.
- , Dorothy K. Grange
- , Delphine Heron
- , Stacy Hewson
- , Susan M. Hiatt
- , Kathleen A. Hibbs
- , Parul Jayakar
- , Louisa Kalsner
- , Lise Larcher
- , Gaetan Lesca
- , Paul R. Mark
- , Kathryn Miller
- , Caroline Nava
- , Mathilde Nizon
- , G. Shashidhar Pai
- , John Pappas
- , Gretchen Parsons
- , Katelyn Payne
- , Audrey Putoux
- , Rachel Rabin
- , Isabelle Sabatier
- , Marwan Shinawi
- , Natasha Shur
- , Steven A. Skinner
- , Stephanie Valence
- , Hannah Warren
- , Sandra Whalen
- , Amy Crunk
- , Ganka Douglas
- , Kristin G. Monaghan
- , Richard E. Person
- , Rebecca Willaert
- , Benjamin D. Solomon
- & Jane Juusola
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Molecular diagnostic experience of whole-exome sequencing in adult patients
- Jennifer E. Posey
- , Jill A. Rosenfeld
- , Regis A. James
- , Matthew Bainbridge
- , Zhiyv Niu
- , Xia Wang
- , Shweta Dhar
- , Wojciech Wiszniewski
- , Zeynep H. C. Akdemir
- , Tomasz Gambin
- , Fan Xia
- , Richard E. Person
- , Magdalena Walkiewicz
- , Chad A. Shaw
- , V. Reid Sutton
- , Arthur L. Beaudet
- , Donna Muzny
- , Christine M. Eng
- , Yaping Yang
- , Richard A. Gibbs
- , James R. Lupski
- , Eric Boerwinkle
- & Sharon E. Plon
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
- Vincenzo Salpietro
- , Christine L. Dixon
- , Hui Guo
- , Oscar D. Bello
- , Jana Vandrovcova
- , Stephanie Efthymiou
- , Reza Maroofian
- , Gali Heimer
- , Lydie Burglen
- , Stephanie Valence
- , Erin Torti
- , Moritz Hacke
- , Julia Rankin
- , Huma Tariq
- , Estelle Colin
- , Vincent Procaccio
- , Pasquale Striano
- , Kshitij Mankad
- , Andreas Lieb
- , Sharon Chen
- , Laura Pisani
- , Conceicao Bettencourt
- , Roope Männikkö
- , Andreea Manole
- , Alfredo Brusco
- , Enrico Grosso
- , Giovanni Battista Ferrero
- , Judith Armstrong-Moron
- , Sophie Gueden
- , Omer Bar-Yosef
- , Michal Tzadok
- , Kristin G. Monaghan
- , Teresa Santiago-Sim
- , Richard E. Person
- , Megan T. Cho
- , Rebecca Willaert
- , Yongjin Yoo
- , Jong-Hee Chae
- , Yingting Quan
- , Huidan Wu
- , Tianyun Wang
- , Raphael A. Bernier
- , Kun Xia
- , Alyssa Blesson
- , Mahim Jain
- , Mohammad M. Motazacker
- , Bregje Jaeger
- , Amy L. Schneider
- , Katja Boysen
- , Alison M. Muir
- , Candace T. Myers
- , Ralitza H. Gavrilova
- , Lauren Gunderson
- , Laura Schultz-Rogers
- , Eric W. Klee
- , David Dyment
- , Matthew Osmond
- , Mara Parellada
- , Cloe Llorente
- , Javier Gonzalez-Peñas
- , Angel Carracedo
- , Arie Van Haeringen
- , Claudia Ruivenkamp
- , Caroline Nava
- , Delphine Heron
- , Rosaria Nardello
- , Michele Iacomino
- , Carlo Minetti
- , Aldo Skabar
- , Antonella Fabretto
- , Michael G. Hanna
- , Enrico Bugiardini
- , Isabel Hostettler
- , Benjamin O’Callaghan
- , Alaa Khan
- , Andrea Cortese
- , Emer O’Connor
- , Wai Y. Yau
- , Thomas Bourinaris
- , Rauan Kaiyrzhanov
- , Viorica Chelban
- , Monika Madej
- , Maria C. Diana
- , Maria S. Vari
- , Marina Pedemonte
- , Claudio Bruno
- , Ganna Balagura
- , Marcello Scala
- , Chiara Fiorillo
- , Lino Nobili
- , Nancy T. Malintan
- , Maria N. Zanetti
- , Shyam S. Krishnakumar
- , Gabriele Lignani
- , James E. C. Jepson
- , Paolo Broda
- , Simona Baldassari
- , Pia Rossi
- , Floriana Fruscione
- , Francesca Madia
- , Monica Traverso
- , Patrizia De-Marco
- , Belen Pérez-Dueñas
- , Francina Munell
- , Yamna Kriouile
- , Mohamed El-Khorassani
- , Blagovesta Karashova
- , Daniela Avdjieva
- , Hadil Kathom
- , Radka Tincheva
- , Lionel Van-Maldergem
- , Wolfgang Nachbauer
- , Sylvia Boesch
- , Antonella Gagliano
- , Elisabetta Amadori
- , Jatinder S. Goraya
- , Tipu Sultan
- , Salman Kirmani
- , Shahnaz Ibrahim
- , Farida Jan
- , Jun Mine
- , Selina Banu
- , Pierangelo Veggiotti
- , Gian V. Zuccotti
- , Michel D. Ferrari
- , Arn M. J. Van Den Maagdenberg
- , Alberto Verrotti
- , Gian L. Marseglia
- , Salvatore Savasta
- , Miguel A. Soler
- , Carmela Scuderi
- , Eugenia Borgione
- , Roberto Chimenz
- , Eloisa Gitto
- , Valeria Dipasquale
- , Alessia Sallemi
- , Monica Fusco
- , Caterina Cuppari
- , Maria C. Cutrupi
- , Martino Ruggieri
- , Armando Cama
- , Valeria Capra
- , Niccolò E. Mencacci
- , Richard Boles
- , Neerja Gupta
- , Madhulika Kabra
- , Savvas Papacostas
- , Eleni Zamba-Papanicolaou
- , Efthymios Dardiotis
- , Shazia Maqbool
- , Nuzhat Rana
- , Osama Atawneh
- , Shen Y. Lim
- , Farooq Shaikh
- , George Koutsis
- , Marianthi Breza
- , Domenico A. Coviello
- , Yves A. Dauvilliers
- , Issam AlKhawaja
- , Mariam AlKhawaja
- , Fuad Al-Mutairi
- , Tanya Stojkovic
- , Veronica Ferrucci
- , Massimo Zollo
- , Fowzan S. Alkuraya
- , Maria Kinali
- , Hamed Sherifa
- , Hanene Benrhouma
- , Ilhem B. Y. Turki
- , Meriem Tazir
- , Makram Obeid
- , Sophia Bakhtadze
- , Nebal W. Saadi
- , Maha S. Zaki
- , Chahnez C. Triki
- , Fabio Benfenati
- , Stefano Gustincich
- , Majdi Kara
- , Vincenzo Belcastro
- , Nicola Specchio
- , Giuseppe Capovilla
- , Ehsan G. Karimiani
- , Ahmed M. Salih
- , Njideka U. Okubadejo
- , Oluwadamilola O. Ojo
- , Olajumoke O. Oshinaike
- , Olapeju Oguntunde
- , Kolawole Wahab
- , Abiodun H. Bello
- , Sanni Abubakar
- , Yahaya Obiabo
- , Ernest Nwazor
- , Oluchi Ekenze
- , Uduak Williams
- , Alagoma Iyagba
- , Lolade Taiwo
- , Morenikeji Komolafe
- , Konstantin Senkevich
- , Chingiz Shashkin
- , Nazira Zharkynbekova
- , Kairgali Koneyev
- , Ganieva Manizha
- , Maksud Isrofilov
- , Ulviyya Guliyeva
- , Kamran Salayev
- , Samson Khachatryan
- , Salvatore Rossi
- , Gabriella Silvestri
- , Nourelhoda Haridy
- , Luca A. Ramenghi
- , Georgia Xiromerisiou
- , Emanuele David
- , Mhammed Aguennouz
- , Liana Fidani
- , Cleanthe Spanaki
- , Arianna Tucci
- , Miquel Raspall-Chaure
- , Michael Chez
- , Anne Tsai
- , Emily Fassi
- , Marwan Shinawi
- , John N. Constantino
- , Rita De Zorzi
- , Sara Fortuna
- , Fernando Kok
- , Boris Keren
- , Dominique Bonneau
- , Murim Choi
- , Bruria Benzeev
- , Federico Zara
- , Heather C. Mefford
- , Ingrid E. Scheffer
- , Jill Clayton-Smith
- , Alfons Macaya
- , James E. Rothman
- , Evan E. Eichler
- , Dimitri M. Kullmann
- & Henry Houlden
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Research | | Open
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
- Michael D. Fountain
- , David S. Oleson
- , Megan E. Rech
- , Lara Segebrecht
- , Jill V. Hunter
- , John M. McCarthy
- , Philip J. Lupo
- , Manuel Holtgrewe
- , Rocio Moran
- , Jill A. Rosenfeld
- , Bertrand Isidor
- , Cédric Le Caignec
- , Margarita S. Saenz
- , Robert C. Pedersen
- , Thomas M. Morgan
- , Jean P. Pfotenhauer
- , Fan Xia
- , Weimin Bi
- , Sung-Hae L. Kang
- , Ankita Patel
- , Ian D. Krantz
- , Sarah E. Raible
- , Wendy Smith
- , Ingrid Cristian
- , Erin Torti
- , Jane Juusola
- , Francisca Millan
- , Ingrid M. Wentzensen
- , Richard E. Person
- , Sébastien Küry
- , Stéphane Bézieau
- , Kévin Uguen
- , Claude Férec
- , Arnold Munnich
- , Mieke van Haelst
- , Klaske D. Lichtenbelt
- , Koen van Gassen
- , Tanner Hagelstrom
- , Aditi Chawla
- , Denise L. Perry
- , Ryan J. Taft
- , Marilyn Jones
- , Diane Masser-Frye
- , David Dyment
- , Sunita Venkateswaran
- , Chumei Li
- , Luis F. Escobar
- , Denise Horn
- , Rebecca C. Spillmann
- , Loren Peña
- , Jolanta Wierzba
- , Tim M. Strom
- , Ilaria Parenti
- , Frank J. Kaiser
- , Nadja Ehmke
- & Christian P. Schaaf
