| Breast tumours maintain a reservoir of subclonal diversity during expansion DC Minussi, MD Nicholson, H Ye, A Davis, K Wang, T Baker, M Tarabichi, ... Nature 592 (7853), 302-308, 2021 | 157 | 2021 |
| 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 | 53 | 2021 |
| 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 | 52 | 2022 |
| 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 | 32 | 2023 |
| Bi-allelic pathogenic variants in TUBGCP2 cause microcephaly and lissencephaly spectrum disorders T Mitani, J Punetha, I Akalin, D Pehlivan, M Dawidziuk, ZC Akdemir, ... The American Journal of Human Genetics 105 (5), 1005-1015, 2019 | 31 | 2019 |
| Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability C Zhang, A Jolly, BJ Shayota, JF Mazzeu, H Du, M Dawood, PC Soper, ... Human Genetics and Genomics Advances 3 (1), 2022 | 29 | 2022 |
| Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy D Marafi, T Mitani, S Isikay, J Hertecant, M Almannai, K Manickam, ... Annals of Clinical and Translational Neurology 7 (5), 610-627, 2020 | 24 | 2020 |
| Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy D Marafi, JM Fatih, R Kaiyrzhanov, MP Ferla, C Gijavanekar, A Al-Maraghi, ... Brain 145 (3), 909-924, 2022 | 20 | 2022 |
| 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 |
| Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses I Herman, A Jolly, H Du, M Dawood, GMH Abdel‐Salam, D Marafi, ... American Journal of Medical Genetics Part A 188 (3), 735-750, 2022 | 16 | 2022 |
| Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies CA Chen, J Lattier, W Zhu, J Rosenfeld, L Wang, TM Scott, H Du, V Patel, ... Genetics in Medicine 24 (2), 364-373, 2022 | 15 | 2022 |
| Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease LA Robak, R Du, B Yuan, S Gu, I Alfradique-Dunham, V Kondapalli, ... Neurology: Genetics 6 (5), e498, 2020 | 15 | 2020 |
| Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome AR Lima, BM Ferreira, C Zhang, A Jolly, H Du, JJ White, M Dawood, ... Human mutation 43 (7), 900-918, 2022 | 13 | 2022 |
| De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities V Okur, Z Chen, L Vossaert, S Peacock, J Rosenfeld, L Zhao, H Du, ... NPJ Genomic Medicine 6 (1), 104, 2021 | 13 | 2021 |
| Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant AK Saad, D Marafi, T Mitani, H Du, K Rafat, JM Fatih, SN Jhangiani, ... American Journal of Medical Genetics Part A 185 (4), 1288-1293, 2021 | 13 | 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 | 10 | 2022 |
| The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation H Du, A Jolly, CM Grochowski, B Yuan, M Dawood, SN Jhangiani, H Li, ... Genome Medicine 14 (1), 122, 2022 | 9 | 2022 |
| Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy DG Calame, S Bakhtiari, R Logan, Z Coban-Akdemir, H Du, T Mitani, ... Genetics in Medicine 23 (12), 2455-2460, 2021 | 9 | 2021 |
| Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease DG Calame, T Guo, C Wang, L Garrett, A Jolly, M Dawood, A Kurolap, ... The American Journal of Human Genetics 110 (8), 1394-1413, 2023 | 8 | 2023 |
| Risk of sudden cardiac death in EXOSC5‐related disease DG Calame, I Herman, JM Fatih, H Du, G Akay, SN Jhangiani, ... American Journal of Medical Genetics Part A 185 (8), 2532-2540, 2021 | 8 | 2021 |
James LupskiBaylor College of Medicine在 bcm.edu 的电子邮件经过验证
