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Tülay Tos

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
2015 · Ender Karaca, Tamar Harel, et al. · Neuron · 319
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Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes
2015 · Bo Yuan, Davut Pehlivan, et al. · Journal of Clinical Investigation · 161
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Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort
2015 · Guney Bademci, Joseph Foster, et al. · Genetics in Medicine · 150
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Ankle2, a Target of Zika Virus, Controls Asymmetric Cell Division of Neuroblasts and Uncovers a Novel Microcephaly Pathway
2019 · Nichole Link, Hyunglok Chung, et al. · Developmental Cell · 110
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Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration
2016 · Wan Hee Yoon, Hector Sandoval, et al. · Neuron · 104
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
2021 · Tadahiro Mitani, Sedat Isikay, et al. · The American Journal of Human Genetics · 101
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Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease
2019 · Angad Jolly, Yavuz Bayram, et al. · The Journal of Clinical Endocrinology & Metabolism · 84
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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
2014 · Ayşegül Ozantürk, Jan D Marshall, et al. · Journal of Human Genetics · 51
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Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay
2018 · Marie Morimoto, Helen Waller-Evans, et al. · The American Journal of Human Genetics · 28
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Mothers of 0–3‐year‐old children with Down syndrome: Effects on quality of life
2019 · Gulser Senses Dinc, Esra Cop, et al. · Pediatrics International · 24
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
2024 · Emily Banks, Vincent Francis, et al. · Nature Communications · 13
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Erratum: The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey
2015 · Ayşegül Ozantürk, Jan D Marshall, et al. · Journal of Human Genetics · 9
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Increased Central Corneal Thickness in Patients with Turner Syndrome
2013 · Pinar Nalcacioglu-Yüksekkaya, Emine Sen, et al. · European Journal of Ophthalmology · 9
A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings.
2015 · T Tos, M Y Alp, et al. · PubMed · 7
Genotoxicity of Thallium-201 in Patients with Angina Pectoris Undergoing Myocardial Perfusion Study
2005 · Mustafa Yildirim, Mevlit Ikbal, et al. · The Tohoku Journal of Experimental Medicine · 6
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Pentalogy of Cantrell diagnosed in the first trimester of pregnancy
2013 · Yasemin Cekmez, Tülay Tos, et al. · International Journal of Case Reports and Images · 4
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Prenatal differential diagnosis of fibular agenesis, tibial campomelia and oligosyndactyly
2021 · Ozge Yucel Celik, Mine Gultekin Calik, et al. · Clinical Dysmorphology · 3
Evaluation of Demographic and Clinical Features of Patients with Down Syndrome: Single Center Experience
2014 · Mehtap ACAR, Pelin ZORLU, et al. · Turkish Journal of Pediatric Disease · 3
De Novo Three-Way Chromosome Translocation [46,XX,t(1;20;4) (p32;q12;q32)] in a Patient with Developmental Delay: A Case Report
2013 · Ali Karaman, Tülay Tos · Turkish Journal of Pediatric Disease · 3
Neu-Laxova syndrome: A terrible phenotypic appearance caused by an undefined genetic alteration
2006 · Tülay Tos, Gülden Dınız, et al. · 3
Genetic alterations in benign, preneoplastic and malignant breast lesions
2011 · Ali Karaman, Mehmet Esref Kabalar, et al. · Current Opinion in Biotechnology · 2
Domain-associated phenotypic patterns with MACF1 variants
2026 · Nikhita Gogate, Angad Jolly, et al. · Genetics in Medicine · 1
A rare subtelomeric deletion syndrome: Wolf Hirschhorn syndrome.
2014 · P Zorlu, A S Eksioglu, et al. · PubMed · 1
Partial monosomy 8q and partial trisomy 9q due to the maternal translocation t(8;9(q24.3;q34.1): a case report.
2014 · T Tos, M Y Alp, et al. · PubMed · 1
De novo interstitial deletion of 9q32-34.1 with mental retardation, developmental delay, epilepsy, and cortical dysplasia: a case report.
2014 · T Tos, M Y Alp, et al. · PubMed · 1
Works count: 47
Citation count: 1,198
H-index: 11
I10-index: 11
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