Publications by authors named "Basak Rosti"

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Sensation is dispensable for the maturation of the vestibulo-ocular reflex.
Paige Leary, Celine Bellegarda, Cheryl Quainoo, Dena Goldblatt, Başak Rosti

Science· January 2025

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Motor neurons are dispensable for the assembly of a sensorimotor circuit for gaze stabilization.
Dena Goldblatt, Basak Rosti, Kyla Rose Hamling, Paige Leary, Harsh Panchal

Elife· November 2024

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Sensation is Dispensable for the Maturation of the Vestibulo-ocular Reflex.
Paige Leary, Celine Bellegarda, Cheryl Quainoo, Dena Goldblatt, Basak Rosti

bioRxiv· September 2024

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Motor neurons are dispensable for the assembly of a sensorimotor circuit for gaze stabilization.
Dena Goldblatt, Başak Rosti, Kyla R Hamling, Paige Leary, Harsh Panchal

bioRxiv· January 2024

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A homozygous founder mutation in associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.
Isaac Marin-Valencia, Gaia Novarino, Anide Johansen, Basak Rosti, Mahmoud Y Issa, Rasim O Rosti

J Med Genet· January 2018

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Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
Isaac Marin-Valencia, Andreas Gerondopoulos, Maha S Zaki, Tawfeg Ben-Omran, Mariam Almureikhi, Basak Rosti

Am J Hum Genet· September 2017

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Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Rea M Lardelli, Ashleigh E Schaffer, Veerle R C Eggens, Maha S Zaki, Stephanie Grainger, Basak Rosti, Rasim Ozgur Rosti

Nat Genet· March 2017

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Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.
Susanne Roosing, Rasim O Rosti, Basak Rosti, Erik de Vrieze, Jennifer L Silhavy

Hum Genet· August 2016

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Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.
Rasim O Rosti, Esra Dikoglu, Maha S Zaki, Ghada Abdel-Salam, Nawal Makhseed, Basak Rosti

Am J Med Genet A· April 2016

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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, Maha S Zaki, Majdi Kara, Rasim Ozgur Rosti, Basak Rosti

Nat Genet· July 2015

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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Naiara Akizu, Vincent Cantagrel, Maha S Zaki, Lihadh Al-Gazali, Xin Wang, Rasim Ozgur Rosti, Basak Rosti

Nat Genet· May 2015

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Mutations in CSPP1 lead to classical Joubert syndrome.
Naiara Akizu, Jennifer L Silhavy, Rasim Ozgur Rosti, Eric Scott, Ali G Fenstermaker, Basak Rosti

Am J Hum Genet· January 2014

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Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Gaia Novarino, Ali G Fenstermaker, Maha S Zaki, Matan Hofree, Jennifer L Silhavy, Basak Rosti, Rasim O Rosti

Science· January 2014

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Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
Farid Radmanesh, Ahmet Okay Caglayan, Jennifer L Silhavy, Cahide Yilmaz, Vincent Cantagrel, Başak Rosti

Am J Hum Genet· March 2013

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