Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.

doi:10.1186/s40246-021-00342-3

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Article

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.

Human genomics - 13 Jul 2021

Padhi Evin M, Hayeck Tristan J, Cheng Zhang, Chatterjee Sumantra, Mannion Brandon J, Byrska-Bishop Marta, Willems Marjolaine, Pinson Lucile, Redon Sylvia, Benech Caroline, Uguen Kevin, Audebert-Bellanger Séverine, Le Marechal Cédric, Férec Claude, Efthymiou Stephanie, Rahman Fatima, Maqbool Shazia, Maroofian Reza, Houlden Henry, Musunuri Rajeeva, Narzisi Giuseppe, Abhyankar Avinash, Hunter Riana D, Akiyama Jennifer, Fries Lauren E, Ng Jeffrey K, Mehinovic Elvisa, Stong Nick, Allen Andrew S, Dickel Diane E, Bernier Raphael A, Gorkin David U, Pennacchio Len A, Zody Michael C, Turner Tychele N

Abstract excerpt

BACKGROUND: Previous research in autism and other neurodevelopmental disorders (NDDs) has indicated an important contribution of protein-coding (coding) de novo variants (DNVs) within specific genes. The role of de novo noncoding variation has been observable as a general increase in genetic burden but has yet to be resolved to individual functional elements. In this study, we assessed whole-genome sequencing...

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PMID: 34256850
DOI: 10.1186/s40246-021-00342-3
PMCID: PMC8278787

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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