Shao, Diane D. http://orcid.org/0000-0003-2087-4082
Straussberg, Rachel
Ahmed, Hind
Khan, Amjad
Tian, Songhai
Hill, R. Sean
Smith, Richard S.
Majmundar, Amar J.
Ameziane, Najim
Neil, Jennifer E.
Yang, Edward
Al Tenaiji, Amal
Jamuar, Saumya S.
Schlaeger, Thorsten M.
Al-Saffar, Muna
Hovel, Iris
Al-Shamsi, Aisha
Basel-Salmon, Lina
Amir, Achiya Z.
Rento, Lariza M.
Lim, Jiin Ying
Ganesan, Indra
Shril, Shirlee
Evrony, Gilad
Barkovich, A. James
Bauer, Peter
Hildebrandt, Friedhelm
Dong, Min
Borck, Guntram
Beetz, Christian
Al-Gazali, Lihadh
Eyaid, Wafaa
Walsh, Christopher A.
Funding for this research was provided by:
National Institutes of Health (R01NS080833)
National Institutes of Health
Harvard Digestive Disease Center
Boston Children’s Hospital Intellectual and Developmental Disabilities Research Center
Burroughs Wellcome Fund
National Institutes of Health
This article is maintained by: Elsevier
Article Title: A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features
Journal Title: Genetics in Medicine
CrossRef DOI link to publisher maintained version: https://doi.org/10.1038/s41436-021-01097-x
Content Type: article
Copyright: © 2021, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics