| 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 |
| 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 | 243 | 2015 |
| Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy HM McLaughlin, R Sakaguchi, C Liu, T Igarashi, D Pehlivan, K Chu, ... The American Journal of Human Genetics 87 (4), 560-566, 2010 | 226 | 2010 |
| 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 |
| Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome CMB Carvalho, MB Ramocki, D Pehlivan, LM Franco, ... Nature genetics 43 (11), 1074-1081, 2011 | 211 | 2011 |
| Insights into genetics, human biology and disease gleaned from family based genomic studies JE Posey, AH O’Donnell-Luria, JX Chong, T Harel, SN Jhangiani, ... Genetics in Medicine 21 (4), 798-812, 2019 | 185 | 2019 |
| 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 |
| ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry R Hjeij, A Lindstrand, R Francis, MA Zariwala, X Liu, Y Li, R Damerla, ... The American Journal of Human Genetics 93 (2), 357-367, 2013 | 173 | 2013 |
| Replicative mechanisms for CNV formation are error prone CMB Carvalho, D Pehlivan, MB Ramocki, P Fang, B Alleva, LM Franco, ... Nature genetics 45 (11), 1319-1326, 2013 | 147 | 2013 |
| Copy-number variation contributes to the mutational load of Bardet-Biedl syndrome A Lindstrand, S Frangakis, CMB Carvalho, EB Richardson, KA McFadden, ... The American Journal of Human Genetics 99 (2), 318-336, 2016 | 140 | 2016 |
| Phenotypic expansion illuminates multilocus pathogenic variation E Karaca, JE Posey, Z Coban Akdemir, D Pehlivan, T Harel, SN Jhangiani, ... Genetics in Medicine 20 (12), 1528-1537, 2018 | 117 | 2018 |
| 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 |
| Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome A Lindstrand, EE Davis, CMB Carvalho, D Pehlivan, JR Willer, IC Tsai, ... The American Journal of Human Genetics 94 (5), 745-754, 2014 | 101 | 2014 |
| 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 |
| Downregulation of ING3 mRNA expression predicts poor prognosis in head and neck cancer M Gunduz, LB Beder, E Gunduz, H Nagatsuka, K Fukushima, D Pehlivan, ... Cancer science 99 (3), 531-538, 2008 | 74 | 2008 |
| 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 |
| 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 |
