Nilay Güneş

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

Davut Pehli̇van, Yavuz Bayram, Nilay Güneş et al. · The American Journal of Human Genetics · 2019 · 121 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on<i>GNPTAB</i>and<i>GNPTG</i>mutations

Renata Voltolini Velho, Frederike L. Harms, Tatyana Danyukova et al. · Human Mutation · 2019 · 51 citations

Life Sciences, Genetics, Molecular Genetics +17

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Nicolas Chatron, Felicitas Becker, Heba Morsy et al. · Brain · 2020 · 31 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey

Güven Toksoy, Dilek Uludağ Alkaya, Şahin Avcı et al. · Molecular Syndromology · 2020 · 27 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Two novel mutations in <i>XYLT2</i> cause spondyloocular syndrome

Fulya Taylan, Zehra Yavaş Abalı, Nina Jäntti et al. · American Journal of Medical Genetics Part A · 2017 · 26 citations

Life Sciences, Genetics, Molecular Genetics +15