| Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders A Stray-Pedersen, HS Sorte, P Samarakoon, T Gambin, IK Chinn, ... Journal of Allergy and Clinical Immunology 139 (1), 232-245, 2017 | 277 | 2017 |
| Lessons learned from additional research analyses of unsolved clinical exome cases MK Eldomery, Z Coban-Akdemir, T Harel, JA Rosenfeld, T Gambin, ... Genome medicine 9, 1-15, 2017 | 224 | 2017 |
| Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes T Harel, WH Yoon, C Garone, S Gu, Z Coban-Akdemir, MK Eldomery, ... The American Journal of Human Genetics 99 (4), 831-845, 2016 | 172 | 2016 |
| Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations SR Lalani, P Liu, JA Rosenfeld, LB Watkin, T Chiang, MS Leduc, W Zhu, ... The American Journal of Human Genetics 98 (2), 347-357, 2016 | 120 | 2016 |
| Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort T Gambin, ZC Akdemir, B Yuan, S Gu, T Chiang, C Carvalho, C Shaw, ... Nucleic acids research 45 (4), 1633-1648, 2017 | 118 | 2017 |
| De novo missense mutations in DHX30 impair global translation and cause a neurodevelopmental disorder D Lessel, C Schob, S Küry, MRF Reijnders, T Harel, MK Eldomery, ... The American Journal of Human Genetics 101 (5), 716-724, 2017 | 83 | 2017 |
| De novo GMNN mutations cause autosomal-dominant primordial dwarfism associated with Meier-Gorlin syndrome LC Burrage, WL Charng, MK Eldomery, JR Willer, EE Davis, ... The American Journal of Human Genetics 97 (6), 904-913, 2015 | 78 | 2015 |
| Bi-allelic mutations in PKD1L1 are associated with laterality defects in humans F Vetrini, LCA D’Alessandro, ZC Akdemir, A Braxton, MS Azamian, ... The American Journal of Human Genetics 99 (4), 886-893, 2016 | 77 | 2016 |
| Phenotypic expansion in DDX3X – a common cause of intellectual disability in females X Wang, JE Posey, JA Rosenfeld, CA Bacino, F Scaglia, LD Immken, ... Annals of clinical and translational neurology 5 (10), 1277-1285, 2018 | 73 | 2018 |
| Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism FL Harms, KM Girisha, AA Hardigan, F Kortüm, A Shukla, M Alawi, A Dalal, ... The American Journal of Human Genetics 100 (1), 117-127, 2017 | 73 | 2017 |
| GNB5 mutations cause an autosomal-recessive multisystem syndrome with sinus bradycardia and cognitive disability EM Lodder, P De Nittis, CD Koopman, W Wiszniewski, CFM de Souza, ... The American Journal of Human Genetics 99 (3), 704-710, 2016 | 72 | 2016 |
| Monoallelic and biallelic variants in EMC1 identified in individuals with global developmental delay, hypotonia, scoliosis, and cerebellar atrophy T Harel, G Yesil, Y Bayram, Z Coban-Akdemir, WL Charng, E Karaca, ... The American Journal of Human Genetics 98 (3), 562-570, 2016 | 72 | 2016 |
| Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially X Luo, JA Rosenfeld, S Yamamoto, T Harel, Z Zuo, M Hall, KJ Wierenga, ... PLoS genetics 13 (7), e1006905, 2017 | 67 | 2017 |
| Truncating variants in NAA15 are associated with variable levels of intellectual disability, autism spectrum disorder, and congenital anomalies H Cheng, AV Dharmadhikari, S Varland, N Ma, D Domingo, R Kleyner, ... The American Journal of Human Genetics 102 (5), 985-994, 2018 | 65 | 2018 |
| Recurrent KRAS mutations in papillary renal neoplasm with reverse polarity KI Al-Obaidy, JN Eble, M Nassiri, L Cheng, MK Eldomery, SR Williamson, ... Modern Pathology 33 (6), 1157-1164, 2020 | 57 | 2020 |
| MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death MK Eldomery, ZC Akdemir, FN Vögtle, WL Charng, P Mulica, ... Genome Medicine 8, 1-13, 2016 | 55 | 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 | 47 | 2022 |
| Baylor-Hopkins Center for Mendelian Genomics; and University of Washington Center for Mendelian Genomics (2016). Recurrent de novo and biallelic variation of ATAD3A, encoding a … T Harel, WH Yoon, C Garone, S Gu, Z Coban-Akdemir, MK Eldomery, ... Am. J. Hum. Genet 99, 831-845, 0 | 28 | |
| Human genome meeting 2016: houston, TX, USA. 28 February-2 March 2016 AK Srivastava, Y Wang, R Huang, C Skinner, T Thompson, L Pollard, ... Human genomics 10, 1-40, 2016 | 17 | 2016 |
| Baylor-Hopkins Center for Mendelian Genomics. Monoallelic and biallelic variants in EMC1 identified in individuals with global developmental delay, hypotonia, scoliosis, and … T Harel, G Yesil, Y Bayram, Z Coban-Akdemir, WL Charng, E Karaca, ... Am J Hum Genet 98 (3), 562-570, 2016 | 11 | 2016 |
