Jawid M. Fatih

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

Zeynep Coban‐Akdemir, Janson J. White, Xiaofei Song et al. · The American Journal of Human Genetics · 2018 · 233 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

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

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

Tadahiro Mitani, Sedat Işıkay, Alper Gezdirici et al. · The American Journal of Human Genetics · 2021 · 102 citations · Full text

Life Sciences, Molecular Medicine, Neuroscience +15

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability

Nicole J. Van Bergen, Yiran Guo, Noraldin Al-Deri et al. · Brain · 2019 · 46 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Daniel G. Calame, Tianyu Guo, Chen Wang et al. · The American Journal of Human Genetics · 2023 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9