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Guney Bademci
Guney Bademci
Verified email at med.miami.edu
Title
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Cited by
Year
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
2582011
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
1522016
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
1302016
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
1022020
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
1002011
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
902013
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
902011
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
842013
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
832020
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
802015
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
762014
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
722015
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
682020
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
682010
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
672020
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
652020
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
622021
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
602019
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
602016
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
552015
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