Výsledky vyhledávání - "Aarushi Nayak"

An Integrated Phenotypic and Genotypic Approach Reveals a High‐Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain

Autor: Cole A. Deisseroth, Vanesa C. Lerma, Christina L. Magyar, Jessica Mae Pfliger, Aarushi Nayak, Nathan D. Bliss, Ashley W. LeMaire, Vinodh Narayanan, Christopher Balak, Ginevra Zanni, Enza Maria Valente, Enrico Bertini, Paul J. Benke, Michael F. Wangler, Hsiao‐Tuan Chao

Publikováno v: Annals of Neurology. 92:138-153

Collier/Olf/EBF (COE) transcription factors have distinct expression patterns in the developing and mature nervous system. To date, a neurological disease association has been conclusively established for only the Early B-cell Factor-3 (EBF3) COE fam

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6924ddd64eb38328c16ee5847089edc
https://doi.org/10.1002/ana.26359

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Integrated phenotypic and mutational approach defines EBF3-related HADD syndrome genotype-phenotype relationships

Autor: Vanesa Lerma, Nathan D. Bliss, Hsiao-Tuan Chao, Paul J. Benke, Michael F. Wangler, Cole A. Deisseroth, Ginevra Zanni, Vinodh Narayanan, Enrico Bertini, Ashley W. LeMaire, Aarushi Nayak, Enza Maria Valente, Christopher Balak

Hypotonia, Ataxia, and Delayed Development syndrome is a neurodevelopmental disorder caused by heterozygousEarly B-Cell Factor 3(EBF3) loss-of-function variants. Identified in 2016, the full spectrum of clinical findings and the relationship between

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4f13c5dd39796728306cd51bcbf169e1
https://doi.org/10.1101/2020.12.07.20238691

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