Publications by authors named "Tulay Tos"

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Domain specific phenotypic expansion associated with variants in .
Nikhita Gogate, Angad Jolly, Jill A Rosenfeld, Paulina Bahena-Carbajal, Jonathan A Bernstein, Tulay Tos

medRxiv· June 2025

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Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir Fonov, Tulay Tos

Nat Commun· August 2024

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Loss of symmetric cell division of apical neural progenitors drives -related developmental and epileptic encephalopathy.
Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir Fonov, Tulay Tos

medRxiv· January 2024

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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Tadahiro Mitani, Sedat Isikay, Alper Gezdirici, Elif Yilmaz Gulec, Jaya Punetha, Tulay Tos

Am J Hum Genet· October 2021

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Prenatal differential diagnosis of fibular agenesis, tibial campomelia and oligosyndactyly.
Ozge Yucel Celik, Mine Gultekin Calik, Ayse Keles, Tulay Tos, Aykan Yucel

Clin Dysmorphol· July 2021

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Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.
Nichole Link, Hyunglok Chung, Angad Jolly, Marjorie Withers, Burak Tepe, Tulay Tos

Dev Cell· December 2019

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Mothers of 0-3-year-old children with Down syndrome: Effects on quality of life.
Gulser Senses Dinc, Esra Cop, Tulay Tos, Eyup Sari, Saliha Senel

Pediatr Int· September 2019

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Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
Angad Jolly, Yavuz Bayram, Serap Turan, Zehra Aycan, Tulay Tos

J Clin Endocrinol Metab· August 2019

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Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
Marie Morimoto, Helen Waller-Evans, Zineb Ammous, Xiaofei Song, Kevin A Strauss, Tulay Tos

Am J Hum Genet· November 2018

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Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration.
Wan Hee Yoon, Hector Sandoval, Sonal Nagarkar-Jaiswal, Manish Jaiswal, Shinya Yamamoto, Tulay Tos

Neuron· January 2017

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Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
Guney Bademci, Joseph Foster, Nejat Mahdieh, Mortaza Bonyadi, Duygu Duman, Tulay Tos

Genet Med· April 2016

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Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Ender Karaca, Tamar Harel, Davut Pehlivan, Shalini N Jhangiani, Tomasz Gambin, Tulay Tos

Neuron· November 2015

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Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Bo Yuan, Davut Pehlivan, Ender Karaca, Nisha Patel, Wu-Lin Charng, Tulay Tos

J Clin Invest· February 2015

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The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
Ayşegül Ozantürk, Jan D Marshall, Gayle B Collin, Selma Düzenli, Robert P Marshall, Tülay Tos

J Hum Genet· January 2015

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The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
Ayşegül Ozantürk, Jan D Marshall, Gayle B Collin, Selma Düzenli, Robert P Marshall, Tülay Tos

J Hum Genet· January 2015

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Increased central corneal thickness in patients with Turner syndrome.
Pinar Nalcacioglu-Yüksekkaya, Emine Sen, Asan Onder, Semra Cetinkaya, Tulay Tos

Eur J Ophthalmol· October 2014

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Genotoxicity of thallium-201 in patients with angina pectoris undergoing myocardial perfusion study.
Mustafa Yildirim, Mevlit Ikbal, Tulay Tos, Bedri Seven, Ibrahim Pirim

Tohoku J Exp Med· August 2005

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