Ahmed Almatrafi

Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach

Faisal A. Alzahrani, Firoz Ahmed, Monika Sharma et al. · Scientific Reports · 2020 · 33 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption

Alia M. Albalawi, Muhammad Sohail Zafar, Siraj DAA Khan et al. · Scientific Reports · 2019 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Identification of a class of human cancer germline genes with transcriptional silencing refractory to the hypomethylating drug 5-aza-2ˈ-deoxycytidine

Ahmed Almatrafi, Julia Feichtinger, Ellen G Vernon et al. · Oncoscience · 2014 · 17 citations · Full text

Medicine, Genetics, Oncology +14

Whole exome sequencing identified a novel single base pair insertion mutation in the <i>EYS</i> gene in a six generation family with retinitis pigmentosa

Jamil Amjad Hashmi, Maan Abdullah Albarry, Ahmed Almatrafi et al. · Congenital Anomalies · 2017 · 14 citations · Full text

Medicine, Genetics, Ophthalmology +17

Clinical and genetic characterization of patients segregating variants in <i>KPTN</i>, <i>MINPP1</i>, <i>NGLY1</i>, <i>AP4B1</i>, and <i>SON</i> underlying neurodevelopmental disorders: Genetic and phenotypic expansion

Asmat Ullah, Abid Ali Shah, Majed Alluqmani et al. · International Journal of Developmental Neuroscience · 2022 · 12 citations · Full text

Life Sciences, Genetics, Neuroscience +17