Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia A Sirmaci, M Spiliopoulos, F Brancati, E Powell, D Duman, A Abrams, ... The American Journal of Human Genetics 89 (2), 289-294, 2011 | 258 | 2011 |
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort G Bademci, J Foster, N Mahdieh, M Bonyadi, D Duman, FB Cengiz, ... Genetics in Medicine 18 (4), 364-371, 2016 | 152 | 2016 |
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents D Yan, D Tekin, G Bademci, J Foster, FB Cengiz, A Kannan-Sundhari, ... Human genetics 135, 953-961, 2016 | 130 | 2016 |
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome V Béziat, SJ Tavernier, YH Chen, CS Ma, M Materna, A Laurence, J Staal, ... Journal of Experimental Medicine 217 (6), 2020 | 102 | 2020 |
Comparison of three targeted enrichment strategies on the SOLiD sequencing platform DJ Hedges, T Guettouche, S Yang, G Bademci, A Diaz, A Andersen, ... PloS one 6 (4), e18595, 2011 | 100 | 2011 |
Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease K Nuytemans, G Bademci, V Inchausti, A Dressen, DD Kinnamon, ... Neurology 80 (11), 982-989, 2013 | 90 | 2013 |
Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approach YJK Edwards, GW Beecham, WK Scott, S Khuri, G Bademci, D Tekin, ... PLoS one 6 (2), e16917, 2011 | 90 | 2011 |
C9ORF72 Intermediate Repeat Copies Are a Significant Risk Factor for Parkinson Disease K Nuytemans, G Bademci, MM Kohli, GW Beecham, L Wang, JI Young, ... Annals of human genetics 77 (5), 351-363, 2013 | 84 | 2013 |
Loss-or gain-of-function mutations in ACOX1 cause axonal loss via different mechanisms H Chung, MF Wangler, PC Marcogliese, J Jo, TA Ravenscroft, Z Zuo, ... Neuron 106 (4), 589-606. e6, 2020 | 83 | 2020 |
Comprehensive analysis of deafness genes in families with autosomal recessive nonsyndromic hearing loss T Atik, H Onay, A Aykut, G Bademci, T Kirazli, M Tekin, F Ozkinay PloS one 10 (11), e0142154, 2015 | 80 | 2015 |
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing O Diaz-Horta, A Subasioglu-Uzak, M Grati, A DeSmidt, J Foster, L Cao, ... Proceedings of the National Academy of Sciences 111 (27), 9864-9868, 2014 | 76 | 2014 |
Whole-exome sequencing and its impact in hereditary hearing loss T Atik, G Bademci, O Diaz-Horta, SH Blanton, M Tekin Genetics research 97, e4, 2015 | 72 | 2015 |
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation L Cif, D Demailly, JP Lin, KE Barwick, M Sa, L Abela, S Malhotra, ... Brain 143 (11), 3242-3261, 2020 | 68 | 2020 |
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss A Sırmacı, S Erbek, J Price, M Huang, D Duman, FB Cengiz, G Bademci, ... The American Journal of Human Genetics 86 (5), 797-804, 2010 | 68 | 2010 |
De novo variants in the ATPase module of MORC2 cause a neurodevelopmental disorder with growth retardation and variable craniofacial dysmorphism MJG Sacoto, IA Tchasovnikarova, E Torti, C Forster, EH Andrew, I Anselm, ... The American Journal of Human Genetics 107 (2), 352-363, 2020 | 67 | 2020 |
Limitations of exome sequencing in detecting rare and undiagnosed diseases KJ Burdick, JD Cogan, LC Rives, AK Robertson, ME Koziura, E Brokamp, ... American Journal of Medical Genetics Part A 182 (6), 1400-1406, 2020 | 65 | 2020 |
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision D Baldridge, MF Wangler, AN Bowman, S Yamamoto, T Schedl, SC Pak, ... Orphanet Journal of Rare Diseases 16 (1), 206, 2021 | 62 | 2021 |
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 |
A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes D Tekin, D Yan, G Bademci, Y Feng, S Guo, J Foster II, S Blanton, M Tekin, ... Hearing research 333, 179-184, 2016 | 60 | 2016 |
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome T Atik, A Koparir, G Bademci, J Foster, U Altunoglu, GY Mutlu, S Bowdin, ... Orphanet journal of rare diseases 10, 1-10, 2015 | 55 | 2015 |