Loading Filters
Showing 1–22 of 22 results
-
Correspondence | | Open
-
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
-
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
-
Research |
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
- Hannah Stamberger
- , Trine B. Hammer
- , Elena Gardella
- , Danique R. M. Vlaskamp
- , Birgitte Bertelsen
- , Simone Mandelstam
- , Iris de Lange
- , Jing Zhang
- , Candace T. Myers
- , Christina Fenger
- , Zaid Afawi
- , Edith P. Almanza Fuerte
- , Danielle M. Andrade
- , Yunus Balcik
- , Bruria Ben Zeev
- , Mark F. Bennett
- , Samuel F. Berkovic
- , Bertrand Isidor
- , Arjan Bouman
- , Eva Brilstra
- , Øyvind L. Busk
- , Anita Cairns
- , Roseline Caumes
- , Nicolas Chatron
- , Russell C. Dale
- , Christa de Geus
- , Patrick Edery
- , Deepak Gill
- , Jacob Bie Granild-Jensen
- , Lauren Gunderson
- , Boudewijn Gunning
- , Gali Heimer
- , Johan R. Helle
- , Michael S. Hildebrand
- , Georgie Hollingsworth
- , Volodymyr Kharytonov
- , Eric W. Klee
- , Bobby P. C. Koeleman
- , David A. Koolen
- , Christian Korff
- , Sébastien Küry
- , Gaetan Lesca
- , Dorit Lev
- , Richard J. Leventer
- , Mark T. Mackay
- , Erica L. Macke
- , Meriel McEntagart
- , Shekeeb S. Mohammad
- , Pauline Monin
- , Martino Montomoli
- , Eva Morava
- , Sebastien Moutton
- , Alison M. Muir
- , Elena Parrini
- , Peter Procopis
- , Emmanuelle Ranza
- , Laura Reed
- , Philipp S. Reif
- , Felix Rosenow
- , Massimiliano Rossi
- , Lynette G. Sadleir
- , Tara Sadoway
- , Helenius J. Schelhaas
- , Amy L. Schneider
- , Krati Shah
- , Ruth Shalev
- , Sanjay M. Sisodiya
- , Thomas Smol
- , Connie T. R. M. Stumpel
- , Kyra Stuurman
- , Joseph D. Symonds
- , Frederic Tran Mau-Them
- , Nienke Verbeek
- , Judith S. Verhoeven
- , Geoffrey Wallace
- , Keren Yosovich
- , Yuri A. Zarate
- , Ayelet Zerem
- , Sameer M. Zuberi
- , Renzo Guerrini
- , Heather C. Mefford
- , Chirag Patel
- , Yue-Hua Zhang
- , Rikke S. Møller
- & Ingrid E. Scheffer
-
Reviews | | Open
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease
- Christian R. Marshall
- , Shimul Chowdhury
- , Ryan J. Taft
- , Mathew S. Lebo
- , Jillian G. Buchan
- , Steven M. Harrison
- , Ross Rowsey
- , Eric W. Klee
- , Pengfei Liu
- , Elizabeth A. Worthey
- , Vaidehi Jobanputra
- , David Dimmock
- , Hutton M. Kearney
- , David Bick
- , Shashikant Kulkarni
- , Stacie L. Taylor
- , John W. Belmont
- , Dimitri J. Stavropoulos
- & Niall J. Lennon
-
Research | | Open
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy
- Sakshi Singh
- , Aditi Gupta
- , Michael Zech
- , Ashley N. Sigafoos
- , Karl J. Clark
- , Yasemin Dincer
- , Matias Wagner
- , Jennifer B. Humberson
- , Sarah Green
- , Koen van Gassen
- , Tracy Brandt
- , Rhonda E. Schnur
- , Francisca Millan
- , Yue Si
- , Volker Mall
- , Juliane Winkelmann
- , Ralitza H. Gavrilova
- , Eric W. Klee
- , Kendra Engleman
- , Nicole P. Safina
- , Rachel Slaugh
- , Emily M. Bryant
- , Wen-Hann Tan
- , Jorge Granadillo
- , Sunita N. Misra
- , G. Bradley Schaefer
- , Shelley Towner
- , Eva H. Brilstra
- & Bobby P. C. Koeleman
-
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
-
-
Research |
Genome-wide detection of tandem DNA repeats that are expanded in autism
- Brett Trost
- , Worrawat Engchuan
- , Charlotte M. Nguyen
- , Bhooma Thiruvahindrapuram
- , Egor Dolzhenko
- , Ian Backstrom
- , Mila Mirceta
- , Bahareh A. Mojarad
- , Yue Yin
- , Alona Dov
- , Induja Chandrakumar
- , Tanya Prasolava
- , Natalie Shum
- , Omar Hamdan
- , Giovanna Pellecchia
- , Jennifer L. Howe
- , Joseph Whitney
- , Eric W. Klee
- , Saurabh Baheti
- , David G. Amaral
- , Evdokia Anagnostou
- , Mayada Elsabbagh
- , Bridget A. Fernandez
- , Ny Hoang
- , M. E. Suzanne Lewis
- , Xudong Liu
- , Calvin Sjaarda
- , Isabel M. Smith
- , Peter Szatmari
- , Lonnie Zwaigenbaum
- , David Glazer
- , Dean Hartley
- , A. Keith Stewart
- , Michael A. Eberle
- , Nozomu Sato
- , Christopher E. Pearson
- , Stephen W. Scherer
- & Ryan K. C. Yuen
-
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
-
Research |
-
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
-
Research | | Open
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
- Holger Hengel
- , Célia Bosso-Lefèvre
- , George Grady
- , Emmanuelle Szenker-Ravi
- , Hankun Li
- , Sarah Pierce
- , Élise Lebigot
- , Thong-Teck Tan
- , Michelle Y. Eio
- , Gunaseelan Narayanan
- , Kagistia Hana Utami
- , Monica Yau
- , Nader Handal
- , Werner Deigendesch
- , Reinhard Keimer
- , Hiyam M. Marzouqa
- , Meral Gunay-Aygun
- , Michael J. Muriello
- , Helene Verhelst
- , Sarah Weckhuysen
- , Sonal Mahida
- , Sakkubai Naidu
- , Terrence G. Thomas
- , Jiin Ying Lim
- , Ee Shien Tan
- , Damien Haye
- , Michèl A. A. P. Willemsen
- , Renske Oegema
- , Wendy G. Mitchell
- , Tyler Mark Pierson
- , Marisa V. Andrews
- , Marcia C. Willing
- , Lance H. Rodan
- , Tahsin Stefan Barakat
- , Marjon van Slegtenhorst
- , Ralitza H. Gavrilova
- , Diego Martinelli
- , Tal Gilboa
- , Abdullah M. Tamim
- , Mais O. Hashem
- , Moeenaldeen D. AlSayed
- , Maha M. Abdulrahim
- , Mohammed Al-Owain
- , Ali Awaji
- , Adel A. H. Mahmoud
- , Eissa A. Faqeih
- , Ali Al Asmari
- , Sulwan M. Algain
- , Lamyaa A. Jad
- , Hesham M. Aldhalaan
- , Ingo Helbig
- , David A. Koolen
- , Angelika Riess
- , Ingeborg Kraegeloh-Mann
- , Peter Bauer
- , Suleyman Gulsuner
- , Hannah Stamberger
- , Alvin Yu Jin Ng
- , Sha Tang
- , Sumanty Tohari
- , Boris Keren
- , Laura E. Schultz-Rogers
- , Eric W. Klee
- , Sabina Barresi
- , Marco Tartaglia
- , Hagar Mor-Shaked
- , Sateesh Maddirevula
- , Amber Begtrup
- , Aida Telegrafi
- , Rolph Pfundt
- , Rebecca Schüle
- , Brian Ciruna
- , Carine Bonnard
- , Mahmoud A. Pouladi
- , James C. Stewart
- , Adam Claridge-Chang
- , Dirk J. Lefeber
- , Fowzan S. Alkuraya
- , Ajay S. Mathuru
- , Byrappa Venkatesh
- , Joseph J. Barycki
- , Melanie A. Simpson
- , Saumya S. Jamuar
- , Ludger Schöls
- & Bruno Reversade
-
Research |
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
- Ash Zawerton
- , Cyril Mignot
- , Ashley Sigafoos
- , Patrick R. Blackburn
- , Abdul Haseeb
- , Kirsty McWalter
- , Shoji Ichikawa
- , Caroline Nava
- , Boris Keren
- , Perrine Charles
- , Isabelle Marey
- , Anne-Claude Tabet
- , Jonathan Levy
- , Laurence Perrin
- , Andreas Hartmann
- , Gaetan Lesca
- , Caroline Schluth-Bolard
- , Pauline Monin
- , Sophie Dupuis-Girod
- , Maria J. Guillen Sacoto
- , Rhonda E. Schnur
- , Zehua Zhu
- , Alice Poisson
- , Salima El Chehadeh
- , Yves Alembik
- , Ange-Line Bruel
- , Daphné Lehalle
- , Sophie Nambot
- , Sébastien Moutton
- , Sylvie Odent
- , Sylvie Jaillard
- , Christèle Dubourg
- , Yvonne Hilhorst-Hofstee
- , Tina Barbaro-Dieber
- , Lucia Ortega
- , Elizabeth J. Bhoj
- , Diane Masser-Frye
- , Lynne M. Bird
- , Kristin Lindstrom
- , Keri M. Ramsey
- , Vinodh Narayanan
- , Emily Fassi
- , Marcia Willing
- , Trevor Cole
- , Claire G. Salter
- , Rhoda Akilapa
- , Anthony Vandersteen
- , Natalie Canham
- , Patrick Rump
- , Erica H. Gerkes
- , Jolien S. Klein Wassink-Ruiter
- , Emilia Bijlsma
- , Mariëtte J. V. Hoffer
- , Marcelo Vargas
- , Antonina Wojcik
- , Florian Cherik
- , Christine Francannet
- , Jill A. Rosenfeld
- , Keren Machol
- , Daryl A. Scott
- , Carlos A. Bacino
- , Xia Wang
- , Gary D. Clark
- , Marta Bertoli
- , Simon Zwolinski
- , Rhys H. Thomas
- , Ela Akay
- , Richard C. Chang
- , Rebekah Bressi
- , Rossana Sanchez Russo
- , Myriam Srour
- , Laura Russell
- , Anne-Marie E. Goyette
- , Lucie Dupuis
- , Roberto Mendoza-Londono
- , Catherine Karimov
- , Maries Joseph
- , Mathilde Nizon
- , Benjamin Cogné
- , Alma Kuechler
- , Amélie Piton
- , Eric W. Klee
- , Véronique Lefebvre
- , Karl J. Clark
- & Christel Depienne
-
Research | | Open
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
-
Research | | Open
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
- Enrico D. H. Konrad
- , Niels Nardini
- , Almuth Caliebe
- , Inga Nagel
- , Dana Young
- , Gabriella Horvath
- , Stephanie L. Santoro
- , Christine Shuss
- , Alban Ziegler
- , Dominique Bonneau
- , Marlies Kempers
- , Rolph Pfundt
- , Eric Legius
- , Arjan Bouman
- , Kyra E. Stuurman
- , Katrin Õunap
- , Sander Pajusalu
- , Monica H. Wojcik
- , Georgia Vasileiou
- , Gwenaël Le Guyader
- , Hege M. Schnelle
- , Siren Berland
- , Evelien Zonneveld-Huijssoon
- , Simone Kersten
- , Aditi Gupta
- , Patrick R. Blackburn
- , Marissa S. Ellingson
- , Matthew J. Ferber
- , Radhika Dhamija
- , Eric W. Klee
- , Meriel McEntagart
- , Klaske D. Lichtenbelt
- , Amy Kenney
- , Samantha A. Vergano
- , Rami Abou Jamra
- , Konrad Platzer
- , Mary Ella Pierpont
- , Divya Khattar
- , Robert J. Hopkin
- , Richard J. Martin
- , Marjolijn C. J. Jongmans
- , Vivian Y. Chang
- , Julian A. Martinez-Agosto
- , Outi Kuismin
- , Mitja I. Kurki
- , Olli Pietiläinen
- , Aarno Palotie
- , Timothy J. Maarup
- , Diana S. Johnson
- , Katja Venborg Pedersen
- , Lone W. Laulund
- , Sally A. Lynch
- , Moira Blyth
- , Katrina Prescott
- , Natalie Canham
- , Rita Ibitoye
- , Eva H. Brilstra
- , Marwan Shinawi
- , Emily Fassi
- , Heinrich Sticht
- , Anne Gregor
- , Hilde Van Esch
- & Christiane Zweier
-
Research |
-
Research |
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
- Sandra Jansen
- , Ilse M. van der Werf
- , A. Micheil Innes
- , Alexandra Afenjar
- , Pankaj B. Agrawal
- , Ilse J. Anderson
- , Paldeep S. Atwal
- , Ellen van Binsbergen
- , Marie-José van den Boogaard
- , Lucia Castiglia
- , Zeynep H. Coban-Akdemir
- , Anke van Dijck
- , Diane Doummar
- , Albertien M. van Eerde
- , Anthonie J. van Essen
- , Koen L. van Gassen
- , Maria J. Guillen Sacoto
- , Mieke M. van Haelst
- , Ivan Iossifov
- , Jessica L. Jackson
- , Elizabeth Judd
- , Charu Kaiwar
- , Boris Keren
- , Eric W. Klee
- , Jolien S. Klein Wassink-Ruiter
- , Marije E. Meuwissen
- , Kristin G. Monaghan
- , Sonja A. de Munnik
- , Caroline Nava
- , Charlotte W. Ockeloen
- , Rosa Pettinato
- , Hilary Racher
- , Tuula Rinne
- , Corrado Romano
- , Victoria R. Sanders
- , Rhonda E. Schnur
- , Eric J. Smeets
- , Alexander P. A. Stegmann
- , Asbjørg Stray-Pedersen
- , David A. Sweetser
- , Paulien A. Terhal
- , Kristian Tveten
- , Grace E. VanNoy
- , Petra F. de Vries
- , Jessica L. Waxler
- , Marcia Willing
- , Rolph Pfundt
- , Joris A. Veltman
- , R. Frank Kooy
- , Lisenka E. L. M. Vissers
- & Bert B. A. de Vries
-
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
-
Research |
-
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
-
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
