Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3
Divya Nair(Children's Hospital of Philadelphia), Elizabeth Bhoj(Children's Hospital of Philadelphia), Emanuele Agolini(Bambino Gesù Children's Hospital), Maruša Škrjanec Pušenjak(Ljubljana University Medical Centre), Kimia Kahrizi(Isfahan Fertility and Infertility Center), Hans‐Hilger Ropers(Max Planck Institute for Molecular Genetics), Rolph Pfundt(University Medical Center Groningen), Alpa Sidhu(University of Iowa), Margaret Harr(Children's Hospital of Philadelphia), Sheila Saliganan(Ambry Genetics (United States)), Arthur Jacob(Weill Cornell Medical College in Qatar), Sandra Jansen(Radboud University Nijmegen), Jennifer Pasquier(Cornell University), Gaber Bergant(Ljubljana University Medical Centre), Hossein Najmabadi(Yahoo (Spain)), Andrew Yoon(Children's Hospital of Philadelphia), Kirsty McWalter, Dong Li(Children's Hospital of Philadelphia), Rafii Arash(Weill Cornell Medical College in Qatar), Borut Peterlin(National Hospital for Neurology and Neurosurgery), Parul Jayakar(Miami Children's Hospital), Hannah Erdogan(Children's Hospital of Philadelphia)
Cited by 7
Related Papers
Abnormal Behavior Associated with a Point Mutation in the Structural Gene for Monoamine Oxidase A
|Science|1993|1.6k
X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family
|The American Journal of Human Genetics|2004|760
Evidence for 28 genetic disorders discovered by combining healthcare and research data
|Nature|2020|672
Localization of the gene for Cowden disease to chromosome 10q22–23
|Nature Genetics|1996|670