Mahmut Şamil Sağıroğlu

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Naiara Akizu, Vincent Cantagrel, Maha S. Zaki et al. · Nature Genetics · 2015 · 134 citations · Full text

Cell Autophagy, Mitophagy, Biallelic Mutations +10

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano et al. · Genetics in Medicine · 2018 · 127 citations · Full text

Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype

Fatih Bayraklı, Bülent Güçlü, Hatice Balaban et al. · BMC Genetics · 2013 · 73 citations · Full text

Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair

Gülşah M Dal, Bekir Ergüner, Mahmut Şamil Sağıroğlu et al. · Journal of Medical Genetics · 2014 · 55 citations · Full text

HomSI: a homozygous stretch identifier from next-generation sequencing data

Zeliha Görmez, Burcu Bakır-Güngör, Mahmut Şamil Sağıroğlu · Bioinformatics · 2013 · 45 citations · Full text