| Meta-analysis of clinical data using human meiotic genes identifies a novel cohort of highly restricted cancer-specific marker genes J Feichtinger, I Aldeailej, R Anderson, M Almutairi, A Almatrafi, ... Oncotarget 3 (8), 843, 2012 | 80 | 2012 |
| Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach FA Alzahrani, F Ahmed, M Sharma, M Rehan, M Mahfuz, MN Baeshen, ... Scientific Reports 10 (1), 12377, 2020 | 31 | 2020 |
| Identification of a class of human cancer germline genes with transcriptional silencing refractory to the hypomethylating drug 5-aza-2′-deoxycytidine. A Almatrafi, J Feichtinger, EG Vernon, NG Escobar, JA Wakeman, ... Oncoscience 1 (11), 745, 2014 | 20 | 2014 |
| KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption AA Assiry, AM Albalawi, MS Zafar, SD Khan, A Ullah, A Almatrafi, ... Scientific Reports 9 (1), 16469, 2019 | 17 | 2019 |
| Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa JA Hashmi, MA Albarry, AM Almatrafi, AM Albalawi, A Mahmood, S Basit Congenital anomalies 58 (1), 10-15, 2018 | 13 | 2018 |
| An 18 bps in-frame deletion mutation in RUNX2 gene is a population polymorphism rather than a pathogenic variant JA Hashmi, A Almatrafi, M Latif, A Nasir, S Basit European Journal of Medical Genetics 62 (2), 124-128, 2019 | 10 | 2019 |
| Molecular identification of some fungi associated with soft dates (Phoenix dactylifera L.) in Saudi Arabia M Al-Mutarrafi, NT Elsharawy, A Al-Ayafi, A Almatrafi, H Abdelkader Advancement in Medicinal Plant Research 7 (4), 97-106, 2019 | 9 | 2019 |
| Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family JA Hashmi, F Fadhli, A Almatrafi, S Afzal, K Ramzan, H Thiele, ... Brain and Development 42 (8), 587-593, 2020 | 8 | 2020 |
| A Heterozygous mutation in the triple helical region of the Alpha 1 (II) chain of the COL2A1 protein causes non-lethal spondyloepiphyseal dysplasia congenita A Almatrafi, F Alfadhli, YN Khan, S Afzal, JA Hashmi, A Ullah, AM Albalawi, ... Genetic testing and molecular biomarkers 23 (5), 310-315, 2019 | 7 | 2019 |
| A homozygous missense variant in the homeobox domain of the NKX6‐2 results in progressive spastic ataxia type 8 associated with lower limb weakness and … A Almatrafi, M Umair, A Eldardear, M Al‐Luqmani, JA Hashmi, ... The Journal of Gene Medicine 22 (8), e3196, 2020 | 6 | 2020 |
| Missense mutations in the CTSC gene in Saudi families segregating Papillon-Lefèvre syndrome AM Albalawi, JA Hashmi, F Alfadhli, A Almatrafi, K Ramzan, S Basit Annals of Dermatology 32 (1), 77, 2020 | 5 | 2020 |
| Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency AM Almatrafi, AM Hibshi, S Basit Medicina 59 (3), 474, 2023 | 4 | 2023 |
| Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders … A Ullah, AA Shah, M Alluqmani, N Haider, H Aman, F Alfadhli, ... International Journal of Developmental Neuroscience 82 (8), 788-804, 2022 | 3 | 2022 |
| A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers … S Ain ul Batool, A Almatrafi, F Fadhli, M Alluqmani, Sadia, G Ali, S Basit American Journal of Medical Genetics Part A 188 (4), 1075-1082, 2022 | 2 | 2022 |
| Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant MA Albarry, M Latif, AQ Alreheli, MA Awadh, AM Almatrafi, AM Albalawi, ... Plos one 16 (2), e0246607, 2021 | 2 | 2021 |
| Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers–Danlos Syndrome: A Report of a Saudi Founder Mutation A Almatrafi, JA Hashmi, F Fadhli, A Alharbi, S Afzal, K Ramzan, S Basit Global Medical Genetics 7 (04), 109-112, 2020 | 2 | 2020 |
| Exome Sequencing to Identify Novel Variants Associated with Secondary Amenorrhea and Premature Ovarian Insufficiency (POI) in Saudi Women AM Almatrafi, AM Hibshi, S Basit Biomedicines 12 (4), 785, 2024 | | 2024 |
| Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up AM Almatrafi, MM Alluqmani, S Basit Biomedicines 11 (11), 2983, 2023 | | 2023 |
| A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management Perspectives NN Mahrous, YF Jamous, AM Almatrafi, DI Fallatah, A Theyab, BH Alanati, ... Biomedicines 11 (10), 2762, 2023 | | 2023 |
| Clinical and Molecular Genetic Characterization of Waardenburg Syndrome AM Almatrafi Egyptian Academic Journal of Biological Sciences. C, Physiology and …, 2022 | | 2022 |
Sulman BasitAssistant Professor at the Department of Biochemistry and Molecular Medicine, College of MedicineVerified email at taibahu.edu.sa
