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Başak Rosti · SciRah

Researcher profile · Semantic Scholar

Başak Rosti

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Başak Rosti — researcher profile on SciRah

h-index: 10
Works: 15
Citations: 1,328

Most-cited papers

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
G. Novarino, A. Fenstermaker, M. Zaki, Matan Hofree +48 more
2014Science540 citations Open access
Semantic Scholar
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, M. Zaki +19 more
2015Nature Genetics221 citations Open access
Semantic Scholar
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
Naiara Akizu, Vincent Cantagrel, M. Zaki, L. Al-Gazali +40 more
2015Nature Genetics131 citations Open access
Semantic Scholar
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
F. Radmanesh, A. Çağlayan, J. Silhavy, C. Yılmaz +12 more
2013American Journal of Human Genetics107 citations Open access
Semantic Scholar
Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing
Rea M. Lardelli, A. Schaffer, V. Eggens, M. Zaki +55 more
2017Nature Genetics88 citations Open access
Semantic Scholar
Mutations in CSPP1 lead to classical Joubert syndrome.
Naiara Akizu, J. Silhavy, R. O. Rosti, Eric Scott +20 more
2014American Journal of Human Genetics81 citations Open access
Semantic Scholar
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
I. Marín-Valencia, Andreas Gerondopoulos, M. Zaki, T. Ben-Omran +14 more
2017American Journal of Human Genetics51 citations Open access
Semantic Scholar
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features
I. Marín-Valencia, G. Novarino, Anide Johansen, Başak Rosti +11 more
2017Journal of Medical Genetics46 citations Open access
Semantic Scholar
Extending the Mutation Spectrum for Galloway–Mowat Syndrome to Include Homozygous Missense Mutations in the WDR73 Gene
R. O. Rosti, E. Dikoglu, M. Zaki, G. Abdel-Salam +8 more
2016American Journal of Medical Genetics. Part A34 citations Open access
Semantic Scholar
Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome
S. Roosing, R. O. Rosti, Başak Rosti, E. de Vrieze +4 more
2016Human Genetics20 citations Open access
Semantic Scholar
Motor neurons are dispensable for the assembly of a sensorimotor circuit for gaze stabilization
D. Goldblatt, Başak Rosti, K. Hamling, Paige Leary +6 more
2024bioRxiv9 citations Open access
Semantic Scholar
Transcriptional profiling of extraocular motor neurons reveals sim1a as a candidate strabismus-related gene
Emily Gershowitz, K. Hamling, Başak Rosti, Hannah Gelnaw +5 more
2026bioRxiv1 citations Open access
Semantic Scholar
Development of the Motor Periphery is the Rate-Limiting Step in the Ontogeny of the Vestibulo-ocular Reflex
Paige Leary, Celine Bellegarda, Cheryl Quainoo, D. Goldblatt +2 more
2024bioRxiv0 citations Open access
Semantic Scholar
Motor neurons are dispensable for the assembly of a sensorimotor circuit for gaze stabilization
D. Goldblatt, Başak Rosti, K. Hamling, Paige Leary +6 more
2024eLife0 citations Open access
Semantic Scholar
Gaia Novarino Common Neurodegenerative Disorders Exome Sequencing Links Corticospinal Motor Neuron Disease to
G. Novarino, A. Fenstermaker, M. Zaki, Matan Hofree +48 more
20140 citations
Semantic Scholar

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