| Centers for Mendelian Genomics: A decade of facilitating gene discovery SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ... Genetics in Medicine 24 (4), 784-797, 2022 | 47 | 2022 |
| High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population T Mitani, S Isikay, A Gezdirici, EY Gulec, J Punetha, JM Fatih, I Herman, ... The American Journal of Human Genetics 108 (10), 1981-2005, 2021 | 46 | 2021 |
| Beyond the exome: what’s next in diagnostic testing for Mendelian conditions MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ... The American Journal of Human Genetics 110 (8), 1229-1248, 2023 | 26 | 2023 |
| A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy R Duan, NW Saadi, CM Grochowski, G Bhadila, A Faridoun, T Mitani, ... American Journal of Medical Genetics Part A 185 (7), 1972-1980, 2021 | 18 | 2021 |
| Developmental genomics of limb malformations: allelic series in association with gene dosage effects contribute to the clinical variability R Duan, H Hijazi, EY Gulec, HK Eker, SR Costa, Y Sahin, Z Ocak, S Isikay, ... Human Genetics and Genomics Advances 3 (4), 2022 | 8 | 2022 |
| El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype M Almannai, D Marafi, GMH Abdel‐Salam, MS Zaki, R Duan, D Calame, ... Clinical genetics 101 (5-6), 530-540, 2022 | 7 | 2022 |
| A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode D Marafi, N Kozar, R Duan, S Bradley, K Yokochi, F Al Mutairi, NW Saadi, ... The American Journal of Human Genetics 109 (9), 1713-1723, 2022 | 6 | 2022 |
| Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features S Efthymiou, I Herman, F Rahman, N Anwar, R Maroofian, J Yip, T Mitani, ... American Journal of Medical Genetics Part A 185 (7), 2241-2249, 2021 | 6 | 2021 |
| Heterogeneous nuclear ribonucleoprotein K is overexpressed in acute myeloid leukemia and causes myeloproliferation in mice via altered Runx1 splicing MJL Aitken, P Malaney, X Zhang, SM Herbrich, L Chan, O Benitez, ... NAR cancer 4 (4), zcac039, 2022 | 5 | 2022 |
| Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait GMH Abdel‐Salam, R Duan, MS Abdel‐Hamid, ISM Sayed, SN Jhangiani, ... American Journal of Medical Genetics Part A 188 (2), 648-657, 2022 | 4 | 2022 |
| Structural basis and energy landscape of apigenin-induced cancer cell apoptosis mechanism in PI3K/Akt pathway R Duan, F Tian, J Sun Molecular simulation 42 (2), 138-148, 2016 | 4 | 2016 |
| Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome A Jolly, H Du, C Borel, N Chen, S Zhao, CM Grochowski, R Duan, ... Human Genetics and Genomics Advances 4 (3), 2023 | 2 | 2023 |
| Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking R Duan, D Marafi, ZJ Xia, BG Ng, R Maroofian, FT Sumya, AK Saad, H Du, ... Journal of inherited metabolic disease 46 (6), 1195-1205, 2023 | 1 | 2023 |
| Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS‐related rare disease traits HM Elbendary, D Marafi, AK Saad, R Elhossini, R Duan, K Rafat, ... Clinical Genetics 104 (3), 344-349, 2023 | 1 | 2023 |
| S104: RBPs dysregulation cause hyper-nucleoli and ribosome gain-of-function driving bone marrow failure P Aguilar-Garrido, M Velasco, MH Sánchez, MÁN Aguadero, P Malaney, ... HemaSphere 6, 5-6, 2022 | 1 | 2022 |
| Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15. 2, 2q31. 1 and 18q21. 32 J Lupski, Z Dardas, D Marafi, R Duan, J Fatih, O El-Rashidy, ... | | 2024 |
| Expanding the phenotype of PPP1R21‐related neurodevelopmental disorder M Almannai, D Marafi, MS Zaki, R Maroofian, S Efthymiou, NW Saadi, ... Clinical genetics, 2024 | | 2024 |
| P634: Exonic SVs driven by Alu/Alu-mediated genomic rearrangements contribute on a large scale to alleles underlying human Mendelian rare disease traits R Duan, H Du, Z Dardas, J Lupski Genetics in Medicine Open 2, 2024 | | 2024 |
| Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by … Z Liu, B Xin, IN Smith, V Sency, J Szekely, A Alkelai, A Shuldiner, ... Human molecular genetics 32 (20), 2981-2995, 2023 | | 2023 |
| Lessons Learned from Studying the Genomics of a Large Recessive Neurodevelopmental Disorder Cohort D Pehlivan, T Mitani, JM Fatih, I Herman, DG Calame, G Akay, H Du, ... ANNALS OF NEUROLOGY 90, S197-S197, 2021 | | 2021 |
