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Terry Braun
Terry Braun
Biomedical Engineering, Ophthalmology, University of Iowa
Adresse e-mail validée de eng.uiowa.edu - Page d'accueil
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Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet–Biedl syndrome gene (BBS11)
AP Chiang, JS Beck, HJ Yen, MK Tayeh, TE Scheetz, RE Swiderski, ...
Proceedings of the National Academy of Sciences 103 (16), 6287-6292, 2006
5282006
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
K Mykytyn, DY Nishimura, CC Searby, M Shastri, H Yen, JS Beck, T Braun, ...
Nature genetics 31 (4), 435-438, 2002
4262002
An autosomal genomic screen for autism. Collaborative linkage study of autism.
S Barrett, JC Beck, R Bernier, E Bisson, TA Braun, TL Casavant, ...
American journal of medical genetics 88 (6), 609-615, 1999
3861999
Missense variations in the fibulin 5 gene and age-related macular degeneration
EM Stone, TA Braun, SR Russell, MH Kuehn, AJ Lotery, PA Moore, ...
New England Journal of Medicine 351 (4), 346-353, 2004
3802004
Bardet–Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly
K Mykytyn, RF Mullins, M Andrews, AP Chiang, RE Swiderski, B Yang, ...
Proceedings of the National Academy of Sciences 101 (23), 8664-8669, 2004
3722004
Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease
EM Stone, JL Andorf, SS Whitmore, AP DeLuca, JC Giacalone, LM Streb, ...
Ophthalmology 124 (9), 1314-1331, 2017
3542017
Regulation of gene expression in the mammalian eye and its relevance to eye disease
TE Scheetz, KYA Kim, RE Swiderski, AR Philp, TA Braun, KL Knudtson, ...
Proceedings of the National Academy of Sciences 103 (39), 14429-14434, 2006
3182006
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
K Mykytyn, T Braun, R Carmi, NB Haider, CC Searby, M Shastri, G Beck, ...
Nature genetics 28 (2), 188-191, 2001
3122001
Evidence supporting WNT2 as an autism susceptibility gene
TH Wassink, J Piven, VJ Vieland, J Huang, RE Swiderski, J Pietila, ...
American journal of medical genetics 105 (5), 406-413, 2001
2772001
Comparative genomic analysis identifies an ADP-ribosylation factor–like gene as the cause of Bardet-Biedl syndrome (BBS3)
AP Chiang, D Nishimura, C Searby, K Elbedour, R Carmi, AL Ferguson, ...
The American Journal of Human Genetics 75 (3), 475-484, 2004
2502004
Incorporating language phenotypes strengthens evidence of linkage to autism
Y Bradford, J Haines, H Hutcheson, M Gardiner, T Braun, V Sheffield, ...
American journal of medical genetics 105 (6), 539-547, 2001
2352001
Genomic landscape and mutational signatures of deafness-associated genes
H Azaiez, KT Booth, SS Ephraim, B Crone, EA Black-Ziegelbein, ...
The American Journal of Human Genetics 103 (4), 484-497, 2018
2272018
Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa
BA Tucker, RF Mullins, LM Streb, K Anfinson, ME Eyestone, E Kaalberg, ...
elife 2, e00824, 2013
2232013
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease
TA Braun, RF Mullins, AH Wagner, JL Andorf, RM Johnston, BB Bakall, ...
Human molecular genetics 22 (25), 5136-5145, 2013
2102013
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants
AE Shearer, RW Eppsteiner, KT Booth, SS Ephraim, J Gurrola, A Simpson, ...
The American Journal of Human Genetics 95 (4), 445-453, 2014
1672014
CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype
ER Burnight, LA Wiley, AV Drack, TA Braun, KR Anfinson, EE Kaalberg, ...
Gene therapy 21 (7), 662-672, 2014
1542014
Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis
RW Eppsteiner, AE Shearer, MS Hildebrand, AP DeLuca, H Ji, CC Dunn, ...
Hearing research 292 (1-2), 51-58, 2012
1422012
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy
SP Shankar, JH Fingert, V Carelli, ML Valentino, TM King, SP Daiger, ...
Ophthalmic genetics 29 (1), 17-24, 2008
1352008
Advancing genetic testing for deafness with genomic technology
AE Shearer, EA Black-Ziegelbein, MS Hildebrand, RW Eppsteiner, H Ravi, ...
Journal of medical genetics 50 (9), 627-634, 2013
1272013
Exon-level expression profiling of ocular tissues
AH Wagner, VN Anand, WH Wang, JE Chatterton, D Sun, AR Shepard, ...
Experimental eye research 111, 105-111, 2013
1212013
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