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Anna Alkelai
Researcher at Columbia University Medical Center
Publications - 50
Citations - 1207
Anna Alkelai is an academic researcher from Columbia University Medical Center. The author has contributed to research in topics: Exome sequencing & Gene. The author has an hindex of 15, co-authored 41 publications receiving 961 citations. Previous affiliations of Anna Alkelai include Tel Aviv University & Weizmann Institute of Science.
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Journal ArticleDOI
The CC2D1A , a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation
Lina Basel-Vanagaite,Revital Attia,Michal Yahav,Russell J. Ferland,Limor Anteki,Christopher A. Walsh,Tsviya Olender,Rachel Straussberg,Nurit Magal,Ellen Taub,Valerie Drasinover,Anna Alkelai,Dani Bercovich,Gideon Rechavi,Amos J. Simon,Mordechai Shohat +15 more
TL;DR: A previously unknown signal transduction pathway is important in human cognitive development and a protein truncating mutation was identified in the gene CC2D1A in nine consanguineous families with severe autosomal recessive NSMR.
Journal ArticleDOI
VarElect: the phenotype-based variation prioritizer of the GeneCards Suite.
Gil Stelzer,Inbar Plaschkes,Danit Oz-Levi,Anna Alkelai,Tsviya Olender,Shahar Zimmerman,Michal Twik,Frida Belinky,Simon Fishilevich,Ron Nudel,Yaron Guan-Golan,David Warshawsky,Dvir Dahary,Asher Kohn,Yaron Mazor,Sergey Kaplan,Tsippi Iny Stein,Hagit N. Baris,Hagit N. Baris,Noa Rappaport,Marilyn Safran,Doron Lancet +21 more
TL;DR: VarElect is described, a comprehensive phenotype-dependent variant/gene prioritizer based on the widely-used GeneCards, which helps rapidly identify causal mutations with extensive evidence, and is indispensable for emerging clinical projects that involve thousands of whole exome/genome NGS analyses.
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Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis
Danit Oz-Levi,Bruria Ben-Zeev,Bruria Ben-Zeev,Elizabeth K. Ruzzo,Yuki Hitomi,Amir Gelman,Kimberly Pelak,Yair Anikster,Yair Anikster,Haike Reznik-Wolf,Haike Reznik-Wolf,Ifat Bar-Joseph,Ifat Bar-Joseph,Tsviya Olender,Anna Alkelai,Meira Weiss,Edna Ben-Asher,Dongliang Ge,Kevin V. Shianna,Zvulun Elazar,David Goldstein,Elon Pras,Elon Pras,Doron Lancet +23 more
TL;DR: Examination of the autophagy-related fate of two key autophagic proteins in skin fibroblasts of an affected individual, as compared to a healthy control, found that both protein levels were decreased and that there was a more pronounced decrease in the lipidated form of LC3 (LC3II).
Journal ArticleDOI
The human olfactory transcriptome.
Tsviya Olender,Ifat Keydar,Jayant M. Pinto,Pavlo Tatarskyy,Anna Alkelai,Ming-Shan Chien,Simon Fishilevich,Diego Restrepo,Hiroaki Matsunami,Yoav Gilad,Doron Lancet +10 more
TL;DR: An overview of expression levels of ORs and auxiliary genes in human olfactory epithelium is provided and a transcriptomic view of the entire OR repertoire is revealed, revealing a large number of over-expressed uncharacterized human non-receptor genes, providing a platform for future discovery.
Journal ArticleDOI
Association of the type 2 diabetes mellitus susceptibility gene, TCF7L2, with schizophrenia in an Arab-Israeli family sample.
Anna Alkelai,Lior Greenbaum,Sara Lupoli,Yoav Kohn,K. Sarner-Kanyas,Edna Ben-Asher,Doron Lancet,Fabio Macciardi,Fabio Macciardi,Bernard Lerer +9 more
TL;DR: Preliminary results independently support previous findings regarding a possible role of TCF7L2 in susceptibility to schizophrenia, and strengthen the importance of integrating linkage analysis models of inheritance while performing association analyses in regions of interest.