|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
|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
|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, 2002
|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
|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
|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, 2001
|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
|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
|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
|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
|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
|Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants|
AE Shearer, RW Eppsteiner, KT Booth, SS Ephraim, J Gurrola II, ...
The American Journal of Human Genetics 95 (4), 445-453, 2014
|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
|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
|Genetic characterization of commonly used glioma cell lines in the rat animal model system|
ZA Sibenaller, AB Etame, MM Ali, M Barua, TA Braun, TL Casavant, ...
Neurosurgical focus 19 (4), 1-9, 2005
|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, 2014
|An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge|
CA Brownstein, AH Beggs, N Homer, B Merriman, WY Timothy, ...
Genome biology 15 (3), R53, 2014
|Genome‐wide identification of pseudogenes capable of disease‐causing gene conversion|
JM Bischof, AP Chiang, TE Scheetz, EM Stone, TL Casavant, VC Sheffield, ...
Human mutation 27 (6), 545-552, 2006
|DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss|
MS Hildebrand, M Morín, NC Meyer, F Mayo, S Modamio‐Hoybjor, ...
Human mutation 32 (7), 825-834, 2011
|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