| Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population D Monies, M Abouelhoda, M Assoum, N Moghrabi, R Rafiullah, ... The American Journal of Human Genetics 104 (6), 1182-1201, 2019 | 271 | 2019 |
| JAK inhibitor therapy in a child with inherited USP18 deficiency F Alsohime, M Martin-Fernandez, MH Temsah, M Alabdulhafid, ... New England Journal of Medicine 382 (3), 256-265, 2020 | 95 | 2020 |
| Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders AM Bertoli-Avella, KK Kandaswamy, S Khan, N Ordonez-Herrera, ... Genetics in Medicine 23 (8), 1551-1568, 2021 | 48 | 2021 |
| Phenotypic and molecular spectrum of pyridoxamine‐5′‐phosphate oxidase deficiency: a scoping review of 87 cases of pyridoxamine‐5′‐phosphate oxidase deficiency M Alghamdi, FA Bashiri, M Abdelhakim, N Adly, DZ Jamjoom, KM Sumaily, ... Clinical Genetics 99 (1), 99-110, 2021 | 41 | 2021 |
| The phenotype and outcome of infantile cardiomyopathy caused by a homozygous ELAC2 mutation Z Shinwari, A Almesned, A Alakhfash, AM Al-Rashdan, E Faqeih, ... Cardiology 137 (3), 188-192, 2017 | 35 | 2017 |
| Categorized genetic analysis in childhood-onset cardiomyopathy ZN Al-Hassnan, A Almesned, S Tulbah, A Alakhfash, F Alhadeq, ... Circulation: Genomic and Precision Medicine 13 (5), 504-514, 2020 | 29 | 2020 |
| A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings MA Alghamdi, J Mulla, N Saheb Sharif-Askari, FJ Guzmán-Vega, ST Arold, ... Frontiers in Immunology 11, 599564, 2021 | 22 | 2021 |
| The leukodystrophy spectrum in Saudi Arabia: epidemiological, clinical, radiological, and genetic data M Alfadhel, M Almuqbil, F Al Mutairi, M Umair, M Almannai, M Alghamdi, ... Frontiers in Pediatrics 9, 633385, 2021 | 21 | 2021 |
| Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes N Himmelreich, M Bertoldi, M Alfadhel, MA Alghamdi, Y Anikster, X Bao, ... Molecular Genetics and Metabolism 139 (3), 107624, 2023 | 20 | 2023 |
| Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review M Alghamdi, WH Alkhamis, FA Bashiri, D Jamjoom, G Al-Nafisah, A Tahir, ... European Journal of Medical Genetics 63 (5), 103844, 2020 | 18 | 2020 |
| Diversity of phenotype and genetic etiology of 23 cystinuria Saudi patients: a retrospective study M Alghamdi, KA Alhasan, A Taha Elawad, S Salim, M Abdelhakim, ... Frontiers in Pediatrics 8, 569389, 2020 | 14 | 2020 |
| Effect of common medications on the expression of SARS-CoV-2 entry receptors in liver tissue NS Sharif-Askari, FS Sharif-Askari, B Mdkhana, S Al Heialy, E Ratemi, ... Archives of Toxicology 94 (12), 4037, 2020 | 14 | 2020 |
| Clinical and Genetic characterization of craniosynostosis in Saudi Arabia M Alghamdi, TR Alhumsi, I Altweijri, WH Alkhamis, O Barasain, ... Frontiers in Pediatrics 9, 582816, 2021 | 11 | 2021 |
| A novel TBX1 variant causing hypoparathyroidism and deafness M Alghamdi, R Al Khalifah, DK Al Homyani, WH Alkhamis, ST Arold, ... Journal of the Endocrine Society 4 (2), bvz028, 2020 | 11 | 2020 |
| Hypermanganesemia with dystonia type 2: a potentially treatable neurodegenerative disorder: a case series in a tertiary university hospital KA Alhasan, W Alshuaibi, MH Hamad, S Salim, DZ Jamjoom, ... Children 9 (9), 1335, 2022 | 8 | 2022 |
| Biallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy L Abbasi‐Moheb, A Westenberger, M Alotaibi, MA Alghamdi, JL Hertecant, ... Clinical Genetics 99 (4), 513-518, 2021 | 8 | 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 | 7 | 2023 |
| A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene A Bertoli-Avella, R Hotakainen, M Al Shehhi, A Urzi, C Pareira, A Marais, ... Journal of medical genetics 59 (10), 993-1001, 2022 | 7 | 2022 |
| Molecular autopsy by proxy in preconception counseling M Ali Alghamdi, A Alrasheedi, E Alghamdi, N Adly, WY AlAali, ... Clinical Genetics 100 (6), 678-691, 2021 | 7 | 2021 |
| Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient F Alsohime, T Almaghamsi, TA Basha, H Alardati, M Alghamdi, ... Journal of clinical immunology 41, 217-220, 2021 | 7 | 2021 |
