Akdes Serin Harmancı

Recurrent somatic mutations in POLR2A define a distinct subset of meningiomas

Victoria Clark, Akdes Serin Harmancı, Hanwen Bai et al. · Nature Genetics · 2016 · 337 citations · Full text

Somatic Variant, Mendelian Disorder, Recurrent Somatic Mutations +6

Integrated genomic analyses of de novo pathways underlying atypical meningiomas

Akdes Serin Harmancı, Mark W. Youngblood, Victoria Clark et al. · Nature Communications · 2017 · 206 citations · Full text

CaSpER identifies and visualizes CNV events by integrative analysis of single-cell or bulk RNA-sequencing data

Akdes Serin Harmancı, Arif Harmanci, Xiaobo Zhou · Nature Communications · 2020 · 170 citations · Full text

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

Ahmet Okay Çağlayan, Sinan Çomu, Jacob F. Baranoski et al. · European Journal of Medical Genetics · 2014 · 85 citations · Full text

Neurodegenerative Diseases, Mendelian Disorder, Ngly1 Mutation +7

A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP

Ahmet Okay Çağlayan, Beyhan Tüysüz, Süleyman Coşkun et al. · Journal of Human Genetics · 2016 · 15 citations · Full text

Concomitant Nonsense Mutation, Mendelian Disorder, Genetic Disorder +7