| CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly S Basit, KM Al-Harbi, SAM Alhijji, AM Albalawi, E Alharby, A Eldardear, ... Human genetics 135, 1199-1207, 2016 | 58 | 2016 |
| Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip S Basit, AM Albalawi, E Alharby, KI Khoshhal BMC Medical Genetics 18, 1-10, 2017 | 39 | 2017 |
| New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin H Alhebbi, AA Peer-Zada, AA Al‐Hussaini, S Algubaisi, A Albassami, ... Journal of Human Genetics 66 (2), 151-159, 2021 | 30 | 2021 |
| Whole genome SNP genotyping in a family segregating developmental dysplasia of the hip detected runs of homozygosity on chromosomes 15q13. 3 and 19p13. 2 S Basit, E Alharby, AM Albalawi, KI Khoshhal Congenital anomalies 58 (2), 56-61, 2018 | 24 | 2018 |
| A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia E Alharby, AM Albalawi, A Nasir, SA Alhijji, A Mahmood, K Ramzan, ... Clinical Genetics 92 (6), 579-586, 2017 | 19 | 2017 |
| Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal‐onset diabetes FM Al‐Fadhli, M Afqi, MH Sairafi, M Almuntashri, E Alharby, G Alharbi, ... Clinical Genetics 99 (5), 694-703, 2021 | 13 | 2021 |
| Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort E Alharby, EA Faqeih, M Saleh, S Alameer, M Almuntashri, A Pastore, ... Genetics in Medicine 22 (12), 2071-2080, 2020 | 8 | 2020 |
| Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndrome S Basit, HM Al-Edressi, MH Sairafi, JA Hashmi, E Alharby, R Safar, ... Journal of Nephrology 33, 763-769, 2020 | 7 | 2020 |
| Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease M Bilal Shamsi, M Saleh, M Almuntashri, E Alharby, M Samman, ... Journal of Human Genetics 66 (7), 689-695, 2021 | 6 | 2021 |
| Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome EA Faqeih, MA Alghamdi, MA Almahroos, E Alharby, M Almuntashri, ... Genetics in Medicine 25 (2), 100323, 2023 | 5 | 2023 |
| A novel frameshift mutation in the ITGB3 gene leading to Glanzmann's thrombasthenia in a Saudi Arabian family A Alharbi, JA Hashmi, E Alharby, AM Albalawi, K Ramzan, S Basit Hematology/Oncology and Stem Cell Therapy, 2021 | 5 | 2021 |
| A novel missense variant in the RASGRP2 gene in patients with moderate to severe bleeding disorder E Alharby, MA Bakhsh, AM Albalawi, SO Almutairi, JA Hashmi, S Basit Platelets 31 (5), 646-651, 2020 | 3 | 2020 |
| A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation N Alsaleh, A Alhashem, B Tabarki, S Mohamed, E Alharby, FS Alkuraya, ... Neurology: Genetics 8 (4), e200010, 2022 | 2 | 2022 |
| Progressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte Syndrome E Alharby, M Obaid, MAO Elamin, M Almuntashri, I Bakhsh, M Samman, ... Neurology: Genetics 7 (3), e586, 2021 | 2 | 2021 |
| Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish CJ Derrick, E Szenker-Ravi, A Santos-Ledo, A Alqahtani, A Yusof, L Eley, ... Human Molecular Genetics 33 (2), 150-169, 2024 | | 2024 |
| Biallelic loss of function variant in ZNF808 is associated with non-syndromic neonatal diabetes MA Alqahtani, SM Al-Qahtani, YH Al-Falki, E Alharby, OM Albulym, ... Clinical Genetics 104 (4), 497-498, 2023 | | 2023 |
| Neurodevelopmental milestones and studies for the ASNSD patients MRI Brain | | |
