Concepedia

Başak Rosti

BR

Statistics

Publications

10

Citations

1.4K

H-Index

10

Active since

2013

Affiliations

Howard Hughes Medical Institute(Current)

University of California San Diego

National Research Centre

Rockefeller University

Broad Institute

Başak Rosti is an author at Howard Hughes Medical Institute specializing in life sciences, genetics, and neurogenetic disorders.

ORCID

Publications per year

2013–2017

10

Publications

10

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki et al. · Science · 2014 · 540 citations

, , +17

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

Alicia Guemez‐Gamboa, Long N. Nguyen, Hongbo Yang et al. · Nature Genetics · 2015 · 216 citations · Full text

, , +14

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Naiara Akizu, Vincent Cantagrel, Maha S. Zaki et al. · Nature Genetics · 2015 · 136 citations · Full text

, , +16

Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities

Farid Radmanesh, Ahmet Okay Çağlayan, Jennifer L. Silhavy et al. · The American Journal of Human Genetics · 2013 · 112 citations · Full text

, , +14

Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Rea M. Lardelli, Ashleigh E. Schaffer, Veerle Rc Eggens et al. · Nature Genetics · 2017 · 104 citations · Full text

, , +8

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