Year |
Citation |
Score |
2023 |
Tollefson MR, Gogal RA, Weaver AM, Schaefer AM, Marini RJ, Azaiez H, Kolbe DL, Wang D, Weaver AE, Casavant TL, Braun TA, Smith RJH, Schnieders M. Assessing Variants of Uncertain Significance Implicated in Hearing Loss Using a Comprehensive Deafness Proteome. Research Square. PMID 36778238 DOI: 10.21203/rs.3.rs-2508462/v1 |
0.323 |
|
2020 |
Walls WD, Moteki H, Thomas TR, Nishio SY, Yoshimura H, Iwasa Y, Frees KL, Nishimura CJ, Azaiez H, Booth KT, Marini RJ, Kolbe DL, Weaver AM, Schaefer AM, Wang K, ... Braun TA, et al. A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations. Human Genetics. PMID 32382995 DOI: 10.1007/S00439-020-02174-Y |
0.405 |
|
2019 |
Tollefson MR, Litman JM, Qi G, O'Connell CE, Wipfler MJ, Marini RJ, Bernabe HV, Tollefson WTA, Braun TA, Casavant TL, Smith RJH, Schnieders MJ. Structural Insights into Hearing Loss Genetics from Polarizable Protein Repacking. Biophysical Journal. PMID 31327459 DOI: 10.1016/J.Bpj.2019.06.030 |
0.349 |
|
2019 |
Rendleman MC, Buatti JM, Braun TA, Smith BJ, Nwakama C, Beichel RR, Brown B, Casavant TL. Machine learning with the TCGA-HNSC dataset: improving usability by addressing inconsistency, sparsity, and high-dimensionality. Bmc Bioinformatics. 20: 339. PMID 31208324 DOI: 10.1186/S12859-019-2929-8 |
0.311 |
|
2018 |
Azaiez H, Booth KT, Ephraim SS, Crone B, Black-Ziegelbein EA, Marini RJ, Shearer AE, Sloan-Heggen CM, Kolbe D, Casavant T, Schnieders MJ, Nishimura C, Braun T, Smith RJH. Genomic Landscape and Mutational Signatures of Deafness-Associated Genes. American Journal of Human Genetics. PMID 30245029 DOI: 10.1016/J.Ajhg.2018.08.006 |
0.447 |
|
2017 |
Stone EM, Andorf JL, Whitmore SS, DeLuca AP, Giacalone JC, Streb LM, Braun TA, Mullins RF, Scheetz TE, Sheffield VC, Tucker BA. Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. Ophthalmology. PMID 28559085 DOI: 10.1016/J.Ophtha.2017.04.008 |
0.676 |
|
2017 |
Bermudez JY, Webber HC, Brown B, Braun TA, Clark AF, Mao W. A Comparison of Gene Expression Profiles between Glucocorticoid Responder and Non-Responder Bovine Trabecular Meshwork Cells Using RNA Sequencing. Plos One. 12: e0169671. PMID 28068412 DOI: 10.1371/Journal.Pone.0169671 |
0.329 |
|
2016 |
Breen ME, Gaynor SC, Monson ET, de Klerk K, Parsons MG, Braun TA, DeLuca AP, Zandi PP, Potash JB, Willour VL. Targeted Sequencing of FKBP5 in Suicide Attempters with Bipolar Disorder. Plos One. 11: e0169158. PMID 28030643 DOI: 10.1371/Journal.Pone.0169158 |
0.651 |
|
2015 |
Taylor KR, Booth KT, Azaiez H, Sloan CM, Kolbe DL, Glanz EN, Shearer AE, DeLuca AP, Anand VN, Hildebrand MS, Simpson AC, Eppsteiner RW, Scheetz TE, Braun TA, Huygen PL, et al. Audioprofile Surfaces: The 21st Century Audiogram. The Annals of Otology, Rhinology, and Laryngology. PMID 26530094 DOI: 10.1177/0003489415614863 |
0.609 |
|
2015 |
Sherman SK, Maxwell JE, Qian Q, Bellizzi AM, Braun TA, Iannettoni MD, Darbro BW, Howe JR. Esophageal cancer in a family with hamartomatous tumors and germline PTEN frameshift and SMAD7 missense mutations. Cancer Genetics. 208: 41-6. PMID 25554686 DOI: 10.1016/J.Cancergen.2014.11.002 |
0.323 |
|
2015 |
Bax NM, Sangermano R, Roosing S, Thiadens AA, Hoefsloot LH, van den Born LI, Phan M, Klevering BJ, Westeneng-van Haaften C, Braun TA, Zonneveld-Vrieling MN, de Wijs I, Mutlu M, Stone EM, den Hollander AI, et al. Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant. Human Mutation. 36: 43-7. PMID 25363634 DOI: 10.1002/Humu.22717 |
0.428 |
|
2014 |
Whitmore SS, Wagner AH, DeLuca AP, Drack AV, Stone EM, Tucker BA, Zeng S, Braun TA, Mullins RF, Scheetz TE. Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq. Experimental Eye Research. 129: 93-106. PMID 25446321 DOI: 10.1016/J.Exer.2014.11.001 |
0.675 |
|
2014 |
Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola J, Simpson A, Black-Ziegelbein EA, Joshi S, Ravi H, Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdal ME, ... ... Braun TA, et al. Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. American Journal of Human Genetics. 95: 445-53. PMID 25262649 DOI: 10.1016/J.Ajhg.2014.09.001 |
0.418 |
|
2014 |
Ephraim SS, Anand N, DeLuca AP, Taylor KR, Kolbe DL, Simpson AC, Azaiez H, Sloan CM, Shearer AE, Hallier AR, Casavant TL, Scheetz TE, Smith RJ, Braun TA. Cordova: web-based management of genetic variation data. Bioinformatics (Oxford, England). 30: 3438-9. PMID 25123904 DOI: 10.1093/Bioinformatics/Btu539 |
0.672 |
|
2014 |
Burnight ER, Wiley LA, Drack AV, Braun TA, Anfinson KR, Kaalberg EE, Halder JA, Affatigato LM, Mullins RF, Stone EM, Tucker BA. CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype. Gene Therapy. 21: 662-72. PMID 24807808 DOI: 10.1038/Gt.2014.39 |
0.359 |
|
2014 |
Sharma TP, McDowell CM, Liu Y, Wagner AH, Thole D, Faga BP, Wordinger RJ, Braun TA, Clark AF. Optic nerve crush induces spatial and temporal gene expression patterns in retina and optic nerve of BALB/cJ mice. Molecular Neurodegeneration. 9: 14. PMID 24767545 DOI: 10.1186/1750-1326-9-14 |
0.3 |
|
2014 |
Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, ... ... Braun TA, et al. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biology. 15: R53. PMID 24667040 DOI: 10.1186/Gb-2014-15-3-R53 |
0.69 |
|
2013 |
Tucker BA, Mullins RF, Streb LM, Anfinson K, Eyestone ME, Kaalberg E, Riker MJ, Drack AV, Braun TA, Stone EM. Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa. Elife. 2: e00824. PMID 23991284 DOI: 10.7554/Elife.00824 |
0.345 |
|
2013 |
Braun TA, Mullins RF, Wagner AH, Andorf JL, Johnston RM, Bakall BB, Deluca AP, Fishman GA, Lam BL, Weleber RG, Cideciyan AV, Jacobson SG, Sheffield VC, Tucker BA, Stone EM. Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. Human Molecular Genetics. 22: 5136-45. PMID 23918662 DOI: 10.1093/Hmg/Ddt367 |
0.701 |
|
2013 |
Shearer AE, Black-Ziegelbein EA, Hildebrand MS, Eppsteiner RW, Ravi H, Joshi S, Guiffre AC, Sloan CM, Happe S, Howard SD, Novak B, Deluca AP, Taylor KR, Scheetz TE, Braun TA, et al. Advancing genetic testing for deafness with genomic technology. Journal of Medical Genetics. 50: 627-34. PMID 23804846 DOI: 10.1136/Jmedgenet-2013-101749 |
0.705 |
|
2013 |
Kim BJ, Braun TA, Wordinger RJ, Clark AF. Progressive morphological changes and impaired retinal function associated with temporal regulation of gene expression after retinal ischemia/reperfusion injury in mice. Molecular Neurodegeneration. 8: 21. PMID 23800383 DOI: 10.1186/1750-1326-8-21 |
0.311 |
|
2013 |
Scheetz TE, Fingert JH, Wang K, Kuehn MH, Knudtson KL, Alward WL, Boldt HC, Russell SR, Folk JC, Casavant TL, Braun TA, Clark AF, Stone EM, Sheffield VC. A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci. Plos One. 8: e58657. PMID 23536807 DOI: 10.1371/Journal.Pone.0058657 |
0.363 |
|
2013 |
Wagner AH, Taylor KR, DeLuca AP, Casavant TL, Mullins RF, Stone EM, Scheetz TE, Braun TA. Prioritization of retinal disease genes: an integrative approach. Human Mutation. 34: 853-9. PMID 23508994 DOI: 10.1002/Humu.22317 |
0.683 |
|
2013 |
Wagner AH, Anand VN, Wang WH, Chatterton JE, Sun D, Shepard AR, Jacobson N, Pang IH, Deluca AP, Casavant TL, Scheetz TE, Mullins RF, Braun TA, Clark AF. Exon-level expression profiling of ocular tissues. Experimental Eye Research. 111: 105-11. PMID 23500522 DOI: 10.1016/J.Exer.2013.03.004 |
0.659 |
|
2013 |
Taylor KR, Deluca AP, Shearer AE, Hildebrand MS, Black-Ziegelbein EA, Anand VN, Sloan CM, Eppsteiner RW, Scheetz TE, Huygen PL, Smith RJ, Braun TA, Casavant TL. AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening. Human Mutation. 34: 539-45. PMID 23280582 DOI: 10.1002/Humu.22268 |
0.703 |
|
2012 |
Mahajan VB, Skeie JM, Bassuk AG, Fingert JH, Braun TA, Daggett HT, Folk JC, Sheffield VC, Stone EM. Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. Plos Genetics. 8: e1003001. PMID 23055945 DOI: 10.1371/Journal.Pgen.1003001 |
0.364 |
|
2012 |
Eppsteiner RW, Shearer AE, Hildebrand MS, Deluca AP, Ji H, Dunn CC, Black-Ziegelbein EA, Casavant TL, Braun TA, Scheetz TE, Scherer SE, Hansen MR, Gantz BJ, Smith RJ. Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis. Hearing Research. 292: 51-8. PMID 22975204 DOI: 10.1016/J.Heares.2012.08.007 |
0.64 |
|
2012 |
Eppsteiner RW, Shearer AE, Hildebrand MS, Taylor KR, Deluca AP, Scherer S, Huygen P, Scheetz TE, Braun TA, Casavant TL, Smith RJ. Using the phenome and genome to improve genetic diagnosis for deafness. Otolaryngology--Head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery. 147: 975-7. PMID 22785243 DOI: 10.1177/0194599812454271 |
0.698 |
|
2011 |
Hildebrand MS, MorÃn M, Meyer NC, Mayo F, Modamio-Hoybjor S, MencÃa A, Olavarrieta L, Morales-Angulo C, Nishimura CJ, Workman H, DeLuca AP, del Castillo I, Taylor KR, Tompkins B, Goodman CW, ... ... Braun TA, et al. DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Human Mutation. 32: 825-34. PMID 21520338 DOI: 10.1002/Humu.21512 |
0.657 |
|
2011 |
Davis LK, Meyer KJ, Schindler EI, Beck JS, Rudd DS, Grundstad AJ, Scheetz TE, Braun TA, Fingert JH, Alward WL, Kwon YH, Folk JC, Russell SR, Wassink TH, Sheffield VC, et al. Copy number variations and primary open-angle glaucoma. Investigative Ophthalmology & Visual Science. 52: 7122-33. PMID 21310917 DOI: 10.1167/Iovs.10-5606 |
0.353 |
|
2011 |
Meyer KJ, Davis LK, Schindler EI, Beck JS, Rudd DS, Grundstad AJ, Scheetz TE, Braun TA, Fingert JH, Alward WL, Kwon YH, Folk JC, Russell SR, Wassink TH, Stone EM, et al. Genome-wide analysis of copy number variants in age-related macular degeneration. Human Genetics. 129: 91-100. PMID 20981449 DOI: 10.1007/S00439-010-0904-6 |
0.4 |
|
2011 |
DeLuca AP, Wagner AH, Taylor KR, Faga B, Thole D, Sheffield VC, Stone EM, Casavant TL, Scheetz TE, Braun TA. Sequencing and disease variation detection tools and techniques Proceedings of Ieee/Acs International Conference On Computer Systems and Applications, Aiccsa. 80-83. DOI: 10.1109/AICCSA.2011.6126607 |
0.633 |
|
2011 |
Taylor KR, DeLuca AP, Goodman CW, Tompkins BW, Scheetz TE, Hildebrand MS, Huygen PLM, Smith RJH, Braun TA, Casavant TL. AudioGene: Computer-based prediction of genetic factors involved in non-syndromic hearing impairment Proceedings of Ieee/Acs International Conference On Computer Systems and Applications, Aiccsa. 75-79. DOI: 10.1109/AICCSA.2011.6126605 |
0.639 |
|
2007 |
O'Leary BM, Davis SG, Smith MF, Brown B, Kemp MB, Almabrazi H, Grundstad JA, Burns T, Leontiev V, Andorf J, Clark AF, Sheffield VC, Casavant TL, Scheetz TE, Stone EM, ... Braun TA, et al. Transcript annotation prioritization and screening system (TrAPSS) for mutation screening. Journal of Bioinformatics and Computational Biology. 5: 1155-72. PMID 18172923 DOI: 10.1142/S0219720007003132 |
0.388 |
|
2006 |
Scheetz TE, Kim KY, Swiderski RE, Philp AR, Braun TA, Knudtson KL, Dorrance AM, DiBona GF, Huang J, Casavant TL, Sheffield VC, Stone EM. Regulation of gene expression in the mammalian eye and its relevance to eye disease. Proceedings of the National Academy of Sciences of the United States of America. 103: 14429-34. PMID 16983098 DOI: 10.1073/Pnas.0602562103 |
0.402 |
|
2006 |
Bischof JM, Chiang AP, Scheetz TE, Stone EM, Casavant TL, Sheffield VC, Braun TA. Genome-wide identification of pseudogenes capable of disease-causing gene conversion. Human Mutation. 27: 545-52. PMID 16671097 DOI: 10.1002/Humu.20335 |
0.397 |
|
2006 |
Chiang AP, Beck JS, Yen HJ, Tayeh MK, Scheetz TE, Swiderski RE, Nishimura DY, Braun TA, Kim KY, Huang J, Elbedour K, Carmi R, Slusarski DC, Casavant TL, Stone EM, et al. Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proceedings of the National Academy of Sciences of the United States of America. 103: 6287-92. PMID 16606853 DOI: 10.1073/Pnas.0600158103 |
0.364 |
|
2006 |
Braun TA, Shankar SP, Davis S, O'Leary B, Scheetz TE, Clark AF, Sheffield VC, Casavant TL, Stone EM. Prioritizing regions of candidate genes for efficient mutation screening. Human Mutation. 27: 195-200. PMID 16395665 DOI: 10.1002/Humu.20247 |
0.415 |
|
2005 |
Sibenaller ZA, Etame AB, Ali MM, Barua M, Braun TA, Casavant TL, Ryken TC. Genetic characterization of commonly used glioma cell lines in the rat animal model system. Neurosurgical Focus. 19: E1. PMID 16241103 DOI: 10.3171/Foc.2005.19.4.2 |
0.324 |
|
2004 |
Stone EM, Braun TA, Russell SR, Kuehn MH, Lotery AJ, Moore PA, Eastman CG, Casavant TL, Sheffield VC. Missense variations in the fibulin 5 gene and age-related macular degeneration. The New England Journal of Medicine. 351: 346-53. PMID 15269314 DOI: 10.1056/NEJMOA040833 |
0.391 |
|
2004 |
Chiang AP, Nishimura D, Searby C, Elbedour K, Carmi R, Ferguson AL, Secrist J, Braun T, Casavant T, Stone EM, Sheffield VC. Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). American Journal of Human Genetics. 75: 475-84. PMID 15258860 DOI: 10.1086/423903 |
0.396 |
|
2004 |
Mykytyn K, Mullins RF, Andrews M, Chiang AP, Swiderski RE, Yang B, Braun T, Casavant T, Stone EM, Sheffield VC. Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. Proceedings of the National Academy of Sciences of the United States of America. 101: 8664-9. PMID 15173597 DOI: 10.1073/Pnas.0402354101 |
0.31 |
|
2003 |
Scheetz TE, Trivedi N, Roberts CA, Kucaba T, Berger B, Robinson NL, Birkett CL, Gavin AJ, O'Leary B, Braun TA, Bonaldo MF, Robinson JP, Sheffield VC, Soares MB, Casavant TL. ESTprep: preprocessing cDNA sequence reads. Bioinformatics (Oxford, England). 19: 1318-24. PMID 12874042 DOI: 10.1093/Bioinformatics/Btg159 |
0.335 |
|
2003 |
Braun TA, Scheetz TE, Webster G, Clark A, Stone EM, Sheffield VC, Casavant TL. Identifying candidate disease genes with high-performance computing Journal of Supercomputing. 26: 7-24. DOI: 10.1023/A:1024417200364 |
0.417 |
|
2002 |
Gavin AJ, Scheetz TE, Roberts CA, O'Leary B, Braun TA, Sheffield VC, Soares MB, Robinson JP, Casavant TL. Pooled library tissue tags for EST-based gene discovery. Bioinformatics (Oxford, England). 18: 1162-6. PMID 12217907 DOI: 10.1093/Bioinformatics/18.9.1162 |
0.321 |
|
2002 |
Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Lüleci G, Chandrasekharappa SC, Collins FS, et al. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nature Genetics. 31: 435-8. PMID 12118255 DOI: 10.1038/Ng935 |
0.369 |
|
2001 |
Wassink TH, Piven J, Vieland VJ, Huang J, Swiderski RE, Pietila J, Braun T, Beck G, Folstein SE, Haines JL, Sheffield VC. Evidence supporting WNT2 as an autism susceptibility gene. American Journal of Medical Genetics. 105: 406-13. PMID 11449391 DOI: 10.1002/Ajmg.1401 |
0.37 |
|
2001 |
Mykytyn K, Braun T, Carmi R, Haider NB, Searby CC, Shastri M, Beck G, Wright AF, Iannaccone A, Elbedour K, Riise R, Baldi A, Raas-Rothschild A, Gorman SW, Duhl DM, et al. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nature Genetics. 28: 188-91. PMID 11381270 DOI: 10.1038/88925 |
0.346 |
|
1999 |
Barrett S, Beck JC, Bernier R, Bisson E, Braun TA, Casavant TL, Childress D, Folstein SE, Garcia M, Gardiner MB, Gilman S, Haines JL, Hopkins K, Landa R, Meyer NH, et al. An autosomal genomic screen for autism. Collaborative linkage study of autism. American Journal of Medical Genetics. 88: 609-15. PMID 10581478 DOI: 10.1002/(SICI)1096-8628(19991215)88:6<609::AID-AJMG7>3.0.CO;2-L |
0.36 |
|
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