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| Lysosomal storage and albinism due to effects of a de novo CLCN7 variant on lysosomal acidification ER Nicoli, MR Weston, M Hackbarth, A Becerril, A Larson, WM Zein, ... The American Journal of Human Genetics 104 (6), 1127-1138, 2019 | 60 | 2019 |
| Updates in clinical and genetics aspects of hypermobile Ehlers Danlos syndrome I Forghani Balkan medical journal 36 (1), 12, 2019 | 50 | 2019 |
| De novo variants in WDR37 are associated with epilepsy, colobomas, dysmorphism, developmental delay, intellectual disability, and cerebellar hypoplasia O Kanca, JC Andrews, PT Lee, C Patel, SR Braddock, AM Slavotinek, ... The American Journal of Human Genetics 105 (2), 413-424, 2019 | 49 | 2019 |
| Partial loss of USP9X function leads to a male neurodevelopmental and behavioral disorder converging on transforming growth factor β signaling BV Johnson, R Kumar, S Oishi, S Alexander, M Kasherman, MS Vega, ... Biological psychiatry 87 (2), 100-112, 2020 | 45 | 2020 |
| De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation D Mao, CM Reuter, MRZ Ruzhnikov, AE Beck, EG Farrow, LT Emrick, ... The American Journal of Human Genetics 106 (4), 570-583, 2020 | 41 | 2020 |
| De novo pathogenic variants in N-cadherin cause a syndromic neurodevelopmental disorder with corpus callosum, axon, cardiac, ocular, and genital defects A Accogli, S Calabretta, J St-Onge, N Boudrahem-Addour, ... The American Journal of Human Genetics 105 (4), 854-868, 2019 | 36 | 2019 |
| Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science K Schoch, C Esteves, A Bican, R Spillmann, H Cope, A McConkie-Rosell, ... Genetics in medicine 23 (2), 259-271, 2021 | 29 | 2021 |
| Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis V Shashi, J Geist, Y Lee, Y Yoo, U Shin, K Schoch, J Sullivan, N Stong, ... Human mutation 40 (8), 1115-1126, 2019 | 24 | 2019 |
| First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature M Bartlett, N Nasiri, R Pressman, G Bademci, I Forghani American Journal of Medical Genetics Part A 185 (4), 1236-1241, 2021 | 18 | 2021 |
| Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature DL Johnstone, TTM Nguyen, J Zambonin, KD Kernohan, A St‐Denis, ... Journal of inherited metabolic disease 43 (6), 1321-1332, 2020 | 16 | 2020 |
| Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey H Cope, H Barseghyan, S Bhattacharya, Y Fu, N Hoppman, C Marcou, ... Molecular genetics & genomic medicine 9 (7), e1665, 2021 | 15 | 2021 |
| Poirier–Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth P Selvam, A Jain, A Cheema, H Atwal, I Forghani, PS Atwal American Journal of Medical Genetics Part A 185 (2), 539-543, 2021 | 13 | 2021 |
| A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy LC Briere, MA Walker, FA High, C Cooper, CA Rogers, CJ Callahan, ... Molecular Case Studies 7 (3), a005827, 2021 | 12 | 2021 |
| DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature LE Meissner, EF Macnamara, P D'Souza, J Yang, G Vezina, ... Molecular genetics & genomic medicine 8 (12), e1544, 2020 | 11 | 2020 |
| Bi-allelic variants in INTS11 are associated with a complex neurological disorder B Tepe, EL Macke, M Niceta, MW Hubshman, O Kanca, L Schultz-Rogers, ... The American Journal of Human Genetics 110 (5), 774-789, 2023 | 9 | 2023 |
| PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy S Panneerselvam, J Wang, W Zhu, H Dai, JG Pappas, R Rabin, KJ Low, ... Clinical genetics 100 (2), 227-233, 2021 | 7 | 2021 |
| Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice CM Studwell, EG Kelley, Undiagnosed Diseases Network, JS Sinsheimer, ... Journal of genetic counseling 30 (2), 439-447, 2021 | 7 | 2021 |
| Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy A Bhatia, BC Mobley, J Cogan, ME Koziura, E Brokamp, J Phillips, ... Clinical imaging 58, 108-113, 2019 | 7 | 2019 |
| A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder SP Shankar, K Grimsrud, L Lanoue, A Egense, B Willis, J Hörberg, ... Genetics in medicine 24 (7), 1567-1582, 2022 | 6 | 2022 |
