| Identifying genes whose mutant transcripts cause dominant disease traits by potential gain-of-function alleles Z Coban-Akdemir, JJ White, X Song, SN Jhangiani, JM Fatih, T Gambin, ... The American Journal of Human Genetics 103 (2), 171-187, 2018 | 173 | 2018 |
| The genomics of arthrogryposis, a complex trait: candidate genes and further evidence for oligogenic inheritance D Pehlivan, Y Bayram, N Gunes, ZC Akdemir, A Shukla, T Bierhals, ... The American Journal of Human Genetics 105 (1), 132-150, 2019 | 84 | 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 24 (4), 784-797, 2022 | 46 | 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 | 44 | 2021 |
| Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability NJ Van Bergen, Y Guo, N Al-Deri, Z Lipatova, D Stanga, S Zhao, ... Brain 143 (1), 112-130, 2020 | 39 | 2020 |
| 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 |
| Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide C Gonzaga-Jauregui, G Yesil, H Nistala, A Gezdirici, Y Bayram, ... European Journal of Human Genetics 28 (9), 1243-1264, 2020 | 27 | 2020 |
| Baylor-Hopkins Center for Mendelian Genomics Identifying genes whose mutant transcripts cause dominant disease traits by potential gain-of-function alleles Z Coban-Akdemir, JJ White, X Song, SN Jhangiani, JM Fatih, T Gambin, ... Am. J. Hum. Genet 103, 171-187, 2018 | 26 | 2018 |
| 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 | 24 | 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 | 20 | 2020 |
| 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 | 20 | 2019 |
| 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 | 18 | 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 | 13 | 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 | 13 | 2021 |
| Baylor-Hopkins Center for Mendelian Genomics D Pehlivan, Y Bayram, N Gunes, Z Coban Akdemir, A Shukla, T Bierhals, ... The genomics of arthrogryposis, a complex trait: candidate genes and further …, 2019 | 11 | 2019 |
| 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 |
| 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 |
| 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), e589, 2021 | 8 | 2021 |
| De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila HL Chung, P Rump, D Lu, MR Glassford, JW Mok, J Fatih, A Basal, ... Human Molecular Genetics 31 (19), 3231-3244, 2022 | 7 | 2022 |
