Essa Alharby

CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly

Sulman Basit, Khalid M. Al-Harbi, Sabri A. M. Alhijji et al. · Human Genetics · 2016 · 52 citations

Life Sciences, Genetics, Neuroscience +10

New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin

Hamoud Alhebbi, Abdul Ali Peer‐Zada, Abdulrahman Al‐Hussaini et al. · Journal of Human Genetics · 2020 · 40 citations

Medicine, Internal Medicine, Pathology +14

Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip

Sulman Basit, Alia M. Albalawi, Essa Alharby et al. · BMC Medical Genetics · 2017 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Whole genome SNP genotyping in a family segregating developmental dysplasia of the hip detected runs of homozygosity on chromosomes 15q13.3 and 19p13.2

Sulman Basit, Essa Alharby, Alia M. Albalawi et al. · Congenital Anomalies · 2017 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biallelic loss of function variant in the unfolded protein response gene <i>PDIA6</i> is associated with asphyxiating thoracic dystrophy and <scp>neonatal‐onset</scp> diabetes

Fatima Alfadhli, Manal Afqi, Mona Hamza Sairafi et al. · Clinical Genetics · 2021 · 22 citations

Life Sciences, Genetics, Molecular Genetics +17