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Research |
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
- Shereen G. Ghosh
- , Marcello Scala
- , Christian Beetz
- , Guy Helman
- , Valentina Stanley
- , Xiaoxu Yang
- , Martin W. Breuss
- , Neda Mazaheri
- , Laila Selim
- , Fatemeh Hadipour
- , Lynn Pais
- , Chloe A. Stutterd
- , Vasiliki Karageorgou
- , Amber Begtrup
- , Amy Crunk
- , Jane Juusola
- , Rebecca Willaert
- , Leigh A. Flore
- , Kelly Kennelly
- , Christopher Spencer
- , Martha Brown
- , Pamela Trapane
- , Anna C. E. Hurst
- , S. Lane Rutledge
- , Dana H. Goodloe
- , Marie T. McDonald
- , Vandana Shashi
- , Kelly Schoch
- , Hoda Tomoum
- , Raghda Zaitoun
- , Zahra Hadipour
- , Hamid Galehdari
- , Alistair T. Pagnamenta
- , Majid Mojarrad
- , Alireza Sedaghat
- , Patrícia Dias
- , Sofia Quintas
- , Atiyeh Eslahi
- , Gholamreza Shariati
- , Peter Bauer
- , Cas Simons
- , Henry Houlden
- , Mahmoud Y. Issa
- , Maha S. Zaki
- , Reza Maroofian
- & Joseph G. Gleeson
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Research |
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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Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A
- Ian M. Campbell
- , Svetlana A. Yatsenko
- , Patricia Hixson
- , Tyler Reimschisel
- , Matthew Thomas
- , William Wilson
- , Usha Dayal
- , James W. Wheless
- , Amy Crunk
- , Cynthia Curry
- , Nicole Parkinson
- , Leona Fishman
- , James J. Riviello
- , Malgorzata J.M. Nowaczyk
- , Susan Zeesman
- , Jill A. Rosenfeld
- , Bassem A. Bejjani
- , Lisa G. Shaffer
- , Sau Wai Cheung
- , James R. Lupski
- , Pawel Stankiewicz
- & Fernando Scaglia
