| 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 | 67 | 2023 |
| 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 | 63 | 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 | 60 | 2022 |
| Spectrum and time course of epilepsy and the associated cognitive decline in MECP2 duplication syndrome D Marafi, B Suter, R Schultz, D Glaze, VN Pavlik, AM Goldman Neurology 92 (2), e108-e114, 2019 | 45 | 2019 |
| 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 | 34 | 2019 |
| Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies GC Dworschak, J Punetha, JC Kalanithy, E Mingardo, HB Erdem, ... Genetics in Medicine 23 (9), 1715-1725, 2021 | 33 | 2021 |
| Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease I Herman, MA Lopez, D Marafi, D Pehlivan, DG Calame, F Abid, TE Lotze Muscle & Nerve 63 (3), 304-310, 2021 | 30 | 2021 |
| Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy J Punetha, E Karaca, A Gezdirici, RE Lamont, D Pehlivan, D Marafi, ... Annals of clinical and translational neurology 6 (8), 1395-1406, 2019 | 30 | 2019 |
| 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 | 26 | 2020 |
| Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals K Saida, R Maroofian, T Sengoku, T Mitani, AT Pagnamenta, D Marafi, ... Genetics in Medicine 25 (1), 90-102, 2023 | 23 | 2023 |
| 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 | 21 | 2022 |
| 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 | 20 | 2021 |
| 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 | 19 | 2021 |
| MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia L Meng, P Isohanni, Y Shao, BH Graham, SE Hickey, S Brooks, ... Annals of neurology 89 (4), 828-833, 2021 | 18 | 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 | 17 | 2023 |
| TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22. 2 deletions H Hijazi, LM Reis, D Pehlivan, JA Bernstein, M Muriello, E Syverson, ... The American Journal of Human Genetics 109 (12), 2270-2282, 2022 | 17 | 2022 |
| 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 | 17 | 2022 |
| WIPI proteins: Biological functions and related syndromes M Almannai, D Marafi, AW El-Hattab Frontiers in Molecular Neuroscience 15, 1011918, 2022 | 16 | 2022 |
| Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage M Lecca, D Pehlivan, DH Suñer, K Weiss, T Coste, M Zweier, Y Oktay, ... The American Journal of Human Genetics 110 (4), 681-690, 2023 | 15 | 2023 |
| 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 | 13 | 2021 |
James LupskiBaylor College of Medicineยืนยันอีเมลแล้วที่ bcm.edu