| Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan KJ Carss, E Stevens, AR Foley, S Cirak, M Riemersma, S Torelli, ... The American Journal of Human Genetics 93 (1), 29-41, 2013 | 239 | 2013 |
| 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 |
| Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study L Bello, A Kesari, H Gordish‐Dressman, A Cnaan, LP Morgenroth, ... Annals of neurology 77 (4), 684-696, 2015 | 127 | 2015 |
| Congenital titinopathy: comprehensive characterization and pathogenic insights EC Oates, KJ Jones, S Donkervoort, A Charlton, S Brammah, JE Smith III, ... Annals of neurology 83 (6), 1105-1124, 2018 | 109 | 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 |
| Diagnosis and etiology of congenital muscular dystrophy: We are halfway there GL O'Grady, M Lek, SR Lamande, L Waddell, EC Oates, J Punetha, ... Annals of neurology 80 (1), 101-111, 2016 | 72 | 2016 |
| Association study of exon variants in the NF-κB and TGFβ pathways identifies CD40 as a modifier of Duchenne muscular dystrophy L Bello, KM Flanigan, RB Weiss, DM Dunn, KJ Swoboda, E Gappmaier, ... The American Journal of Human Genetics 99 (5), 1163-1171, 2016 | 69 | 2016 |
| 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 |
| A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies NF Clarke, K Amburgey, J Teener, S Camelo-Piragua, A Kesari, ... Neuromuscular Disorders 23 (5), 432-436, 2013 | 45 | 2013 |
| 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 |
| Missense variants in the histone acetyltransferase complex component gene TRRAP cause autism and syndromic intellectual disability B Cogné, S Ehresmann, E Beauregard-Lacroix, J Rousseau, T Besnard, ... The American Journal of Human Genetics 104 (3), 530-541, 2019 | 43 | 2019 |
| Homozygous missense variants in NTNG2, encoding a presynaptic netrin-G2 adhesion protein, lead to a distinct neurodevelopmental disorder CM Dias, J Punetha, C Zheng, N Mazaheri, A Rad, S Efthymiou, ... The American Journal of Human Genetics 105 (5), 1048-1056, 2019 | 40 | 2019 |
| 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 |
| Exome sequencing identifies DYNC1H1 variant associated with vertebral abnormality and spinal muscular atrophy with lower extremity predominance J Punetha, S Monges, ME Franchi, EP Hoffman, S Cirak, C Tesi-Rocha Pediatric neurology 52 (2), 239-244, 2015 | 37 | 2015 |
| Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects J Punetha, A Kesari, EP Hoffman, M Gos, A Kamińska, ... Muscle & nerve 55 (2), 277-281, 2017 | 35 | 2017 |
| Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar J Punetha, EP Hoffman Circulation: Cardiovascular Genetics 6 (4), 427-434, 2013 | 33 | 2013 |
| 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 |
| 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 |
| Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine GL O'grady, HA Best, EC Oates, S Kaur, A Charlton, S Brammah, ... European Journal of Human Genetics 23 (6), 883-886, 2015 | 22 | 2015 |
