| 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 | 25 | 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 | 21 | 2019 |
| 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 | 15 | 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 | 12 | 2019 |
| 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, 2022 | 10 | 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 | 10 | 2021 |
| 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 | 10 | 2020 |
| 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 | 9 | 2021 |
| 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 | 8 | 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 | 6 | 2021 |
| Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy AK Saad, D Marafi, T Mitani, A Jolly, H Du, HM Elbendary, SN Jhangiani, ... Brain 143 (10), e83-e83, 2020 | 6 | 2020 |
| 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 | 4 | 2022 |
| 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 | 4 | 2022 |
| Biallelic pathogenic variants in TNNT3 associated with congenital myopathy DG Calame, J Fatih, I Herman, ZC Akdemir, H Du, SN Jhangiani, ... Neurology Genetics 7 (3), 2021 | 4 | 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 | 4 | 2021 |
| Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity Q Thomas, T Gautier, D Marafi, T Besnard, M Willems, S Moutton, B Isidor, ... Genetics in Medicine 23 (10), 1901-1911, 2021 | 3 | 2021 |
| RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability M Scala, M Mojarrad, S Riazuddin, KW Brigatti, Z Ammous, JS Cohen, ... Brain 143 (4), e31-e31, 2020 | 3 | 2020 |
| GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis JM Sliepka, SC McGriff, LZ Rossetti, P Bizargity, H Streff, YS Lee, H Dai, ... Neurology Genetics 5 (6), 2019 | 3 | 2019 |
| 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 | 2 | 2021 |
| Novel deletion of 6p21. 31p21. 1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly NR Pillai, D Marafi, SA Monteiro, M Parnes, BM Chandy, A Patel, ... European Journal of Medical Genetics 62 (6), 103531, 2019 | 2 | 2019 |
Jennifer PoseyBaylor College of MedicineVerified email at bcm.edu
