| A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases S Yamamoto, M Jaiswal, WL Charng, T Gambin, E Karaca, G Mirzaa, ... Cell 159 (1), 200-214, 2014 | 399 | 2014 |
| Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease E Karaca, T Harel, D Pehlivan, SN Jhangiani, T Gambin, ZC Akdemir, ... Neuron 88 (3), 499-513, 2015 | 292 | 2015 |
| 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 |
| Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy C Gonzaga-Jauregui, T Harel, T Gambin, M Kousi, LB Griffin, ... Cell reports 12 (7), 1169-1183, 2015 | 249* | 2015 |
| Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function E Karaca, S Weitzer, D Pehlivan, H Shiraishi, T Gogakos, T Hanada, ... Cell 157 (3), 636-650, 2014 | 220* | 2014 |
| Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes B Yuan, D Pehlivan, E Karaca, N Patel, WL Charng, T Gambin, ... The Journal of clinical investigation 125 (2), 636-651, 2015 | 181 | 2015 |
| 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 |
| Phenotypic expansion illuminates multilocus pathogenic variation LJR Karaca E, Posey JE, Coban Akdemir Z, Pehlivan D, Harel T, Jhangiani SN ... Genet Med, 2018 | 117 | 2018 |
| 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 | 116 | 2017 |
| Loss of nardilysin, a mitochondrial co-chaperone for α-ketoglutarate dehydrogenase, promotes mTORC1 activation and neurodegeneration WH Yoon, H Sandoval, S Nagarkar-Jaiswal, M Jaiswal, S Yamamoto, ... Neuron 93 (1), 115-131, 2017 | 105 | 2017 |
| Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate WL Charng, E Karaca, Z Coban Akdemir, T Gambin, MM Atik, S Gu, ... BMC medical genomics 9, 1-14, 2016 | 105 | 2016 |
| Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin Y Bayram, E Karaca, ZC Akdemir, EO Yilmaz, GA Tayfun, H Aydin, ... The Journal of clinical investigation 126 (2), 762-778, 2016 | 104 | 2016 |
| Novel TMEM67 mutations and genotype‐phenotype correlates in meckelin‐related ciliopathies M Iannicelli, F Brancati, S Mougou‐Zerelli, A Mazzotta, S Thomas, ... Human mutation 31 (5), E1319-E1331, 2010 | 99 | 2010 |
| Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations J Rainger, D Pehlivan, S Johansson, H Bengani, L Sanchez-Pulido, ... The American Journal of Human Genetics 94 (6), 915-923, 2014 | 89 | 2014 |
| Whole-Exome Sequencing Identifies Homozygous GPR161 Mutation in a Family with Pituitary Stalk Interruption Syndrome E Karaca, R Buyukkaya, D Pehlivan, WL Charng, KO Yaykasli, Y Bayram, ... The Journal of Clinical Endocrinology & Metabolism 100 (1), E140-E147, 2015 | 85 | 2015 |
| 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 |
| Mutations in either TUBB or MAPRE2 cause circumferential skin creases Kunze type M Isrie, M Breuss, G Tian, AH Hansen, F Cristofoli, J Morandell, ... The American Journal of Human Genetics 97 (6), 790-800, 2015 | 83 | 2015 |
| Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders L Travaglini, F Brancati, J Silhavy, M Iannicelli, E Nickerson, N Elkhartoufi, ... European Journal of Human Genetics 21 (10), 1074-1078, 2013 | 81 | 2013 |
| PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment M Zollo, M Ahmed, V Ferrucci, V Salpietro, F Asadzadeh, M Carotenuto, ... Brain 140 (4), 940-952, 2017 | 72 | 2017 |
| 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 |
