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T. Braun · SciRah

Researcher profile · Semantic Scholar

T. Braun

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T. Braun — researcher profile on SciRah

h-index: 30
Works: 108
Citations: 5,974

Most-cited papers

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).
Annie P. Chiang, J. Beck, Hsan-jan Yen, Marwan K. Tayeh +12 more
2006Proceedings of the National Academy of Sciences of the United States of America483 citations
Semantic Scholar
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
K. Mykytyn, D. Nishimura, C. Searby, M. Shastri +16 more
2002Nature Genetics379 citations
Semantic Scholar
Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly.
K. Mykytyn, R. Mullins, Michael P. Andrews, Annie P. Chiang +6 more
2004Proceedings of the National Academy of Sciences of the United States of America371 citations Open access
Semantic Scholar
Regulation of gene expression in the mammalian eye and its relevance to eye disease
T. Scheetz, Kwang-Youn A. Kim, R. Swiderski, A. Philp +8 more
2006Proceedings of the National Academy of Sciences of the United States of America342 citations Open access
Semantic Scholar
Missense variations in the fibulin 5 gene and age-related macular degeneration.
E. Stone, T. Braun, S. Russell, M. Kuehn +5 more
2004New England Journal of Medicine334 citations Open access
Semantic Scholar
An autosomal genomic screen for autism. Collaborative linkage study of autism.
S. Barrett, J. Beck, R. Bernier, E. Bisson +21 more
1999American journal of medical genetics307 citations
Semantic Scholar
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes
H. Azaiez, Kevin T. A. Booth, Sean S. Ephraim, Bradley Crone +10 more
2018American Journal of Human Genetics284 citations Open access
Semantic Scholar
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
K. Mykytyn, T. Braun, R. Carmi, N. Haider +15 more
2001Nature Genetics277 citations
Semantic Scholar
Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).
Annie P. Chiang, D. Nishimura, C. Searby, K. Elbedour +7 more
2004American Journal of Human Genetics242 citations Open access
Semantic Scholar
Evidence supporting WNT2 as an autism susceptibility gene.
T. Wassink, J. Piven, V. Vieland, Jian Huang +7 more
2001American journal of medical genetics209 citations
Semantic Scholar
Incorporating language phenotypes strengthens evidence of linkage to autism.
Y. Bradford, J. Haines, H. Hutcheson, M. Gardiner +9 more
2001American journal of medical genetics209 citations
Semantic Scholar
Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa
B. Tucker, R. Mullins, L. M. Streb, K. Anfinson +6 more
2013eLife195 citations Open access
Semantic Scholar
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease
T. Braun, R. Mullins, A. Wagner, Jeaneen L. Andorf +11 more
2013Human Molecular Genetics188 citations Open access
Semantic Scholar
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
A. Shearer, Robert W. Eppsteiner, Kevin T. A. Booth, Sean S. Ephraim +28 more
2014American Journal of Human Genetics158 citations Open access
Semantic Scholar
CEP290 gene transfer rescues Leber Congenital Amaurosis cellular phenotype
E. R. Burnight, L. A. Wiley, A. Drack, T. Braun +7 more
2014Gene Therapy134 citations Open access
Semantic Scholar
Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq
S. Whitmore, A. Wagner, Adam P. DeLuca, A. Drack +6 more
2014Experimental Eye Research120 citations Open access
Semantic Scholar
Advancing Genetic Testing for Deafness with Genomic Technology
A. Shearer, E. A. Black-Ziegelbein, Michael S. Hildebrand, Robert W. Eppsteiner +15 more
2013Journal of Medical Genetics119 citations Open access
Semantic Scholar
Exon-level Expression Profiling of Ocular Tissues
A. Wagner, Nikhil Anand, Wan-Heng Wang, Jon E. Chatterton +10 more
2013Experimental Eye Research108 citations Open access
Semantic Scholar
Progressive morphological changes and impaired retinal function associated with temporal regulation of gene expression after retinal ischemia/reperfusion injury in mice
Byung-Jin Kim, T. Braun, R. Wordinger, A. Clark
2013Molecular Neurodegeneration97 citations Open access
Semantic Scholar
Genetic characterization of commonly used glioma cell lines in the rat animal model system.
Zita A. Sibenaller, A. Etame, Mushtaq M. Ali, M. Barua +3 more
2005Neurosurgical Focus94 citations Open access
Semantic Scholar
Calpain-5 Mutations Cause Autoimmune Uveitis, Retinal Neovascularization, and Photoreceptor Degeneration
V. Mahajan, Jessica M. Skeie, A. Bassuk, J. Fingert +5 more
2012PLoS Genetics90 citations Open access
Semantic Scholar
Genome‐wide identification of pseudogenes capable of disease‐causing gene conversion
Jared Bischof, Annie P. Chiang, Todd E. Scheetz, E. M. Stone +3 more
2006Human Mutation88 citations Open access
Semantic Scholar
Altered gene expression in dry age-related macular degeneration suggests early loss of choroidal endothelial cells
S. Whitmore, T. Braun, Jessica M. Skeie, Christine M. Haas +4 more
2013Molecular Vision66 citations
Semantic Scholar
Gene Expression Signatures Identify Novel Therapeutics for Metastatic Pancreatic Neuroendocrine Tumors
Aaron T Scott, M. Weitz, Patrick J. Breheny, P. Ear +13 more
2020Clinical Cancer Research50 citations Open access
Semantic Scholar
A Genome-Wide Association Study for Primary Open Angle Glaucoma and Macular Degeneration Reveals Novel Loci
T. Scheetz, J. Fingert, Kai Wang, M. Kuehn +10 more
2013PLoS ONE41 citations Open access
Semantic Scholar
Genome-wide analysis of copy number variants in age-related macular degeneration
K. J. Meyer, L. K. Davis, E. I. Schindler, J. Beck +12 more
2010Human Genetics40 citations Open access
Semantic Scholar
Copy number variations and primary open-angle glaucoma.
L. Davis, K. J. Meyer, E. I. Schindler, J. Beck +12 more
2011Investigative Ophthalmology and Visual Science37 citations Open access
Semantic Scholar
Optic nerve crush induces spatial and temporal gene expression patterns in retina and optic nerve of BALB/cJ mice
Tasneem P. Sharma, Colleen M. McDowell, Yang Liu, A. Wagner +5 more
2014Molecular Neurodegeneration35 citations Open access
Semantic Scholar
ESTprep: Preprocessing CDNA Sequence Reads
T. Scheetz, N. Trivedi, Chad A. Roberts, T. Kucaba +11 more
2003Bioinform.34 citations Open access
Semantic Scholar
RABL6A inhibits tumor-suppressive PP2A/AKT signaling to drive pancreatic neuroendocrine tumor growth
Shaikamjad Umesalma, Courtney A Kaemmer, Jordan L Kohlmeyer, Blake L. Letney +25 more
2019Journal of Clinical Investigation30 citations Open access
Semantic Scholar
Genomics of NSCLC patients both affirm PD-L1 expression and predict their clinical responses to anti-PD-1 immunotherapy
K. Brogden, Deepak Parashar, Andrea R. Hallier, T. Braun +7 more
2018BMC Cancer29 citations Open access
Semantic Scholar
Creation and validation of models to predict response to primary treatment in serous ovarian cancer
J. Gonzalez Bosquet, E. Devor, A. Newtson, Brian J. Smith +6 more
2021Scientific Reports27 citations Open access
Semantic Scholar
Machine learning with the TCGA-HNSC dataset: improving usability by addressing inconsistency, sparsity, and high-dimensionality
M. Rendleman, J. Buatti, T. Braun, Brian J. Smith +4 more
2019BMC Bioinformatics26 citations Open access
Semantic Scholar
Pooled library tissue tags for EST-based gene discovery
A. Gavin, T. Scheetz, Chad A. Roberts, Brian O'Leary +5 more
2002Bioinform.25 citations Open access
Semantic Scholar
A Comparison of Gene Expression Profiles between Glucocorticoid Responder and Non-Responder Bovine Trabecular Meshwork Cells Using RNA Sequencing
J. Y. Bermudez, Hannah C. Webber, Bartley J Brown, T. Braun +2 more
2017PLoS ONE24 citations Open access
Semantic Scholar
Differentiation of Small Bowel and Pancreatic Neuroendocrine Tumors by Gene Expression Profiling
J. C. Carr, Erin A. Boese, Philip M. Spanheimer, F. Dahdaleh +8 more
2012Surgery22 citations Open access
Semantic Scholar
Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome
Mallory R. Tollefson, Rose A. Gogal, A. M. Weaver, Amanda M. Schaefer +9 more
2023Human Genetics21 citations Open access
Semantic Scholar
Informatics Methods to Enable Sharing of Quantitative Imaging Research Data
M. Levy, J. Freymann, J. Kirby, Andrey Fedorov +16 more
2012Magnetic Resonance Imaging21 citations Open access
Semantic Scholar
Protein expression in a transformed trabecular meshwork cell line: proteome analysis.
H. T. Steely, G. W. Dillow, Li Bian, Jason A. Grundstad +4 more
2006Molecular Vision20 citations
Semantic Scholar
Parallel creation of non-redundant gene indices from partial mRNA transcripts
N. Trivedi, Jared Bischof, Steve Davis, K. Pedretti +7 more
2002Future generations computer systems20 citations
Semantic Scholar
Changes in Gene Expression in Small Bowel Neuroendocrine Tumors Associated with Progression to Metastases
Kendall Keck, Patrick J. Breheny, T. Braun, B. Darbro +5 more
2017Surgery19 citations Open access
Semantic Scholar
A TFAP2C Gene Signature is Predictive of Outcome in HER2-positive Breast Cancer
Vincent T. Wu, Boris Kiriazov, Kelsey E. Koch, Vivian W. Gu +12 more
2019Molecular Cancer Research18 citations Open access
Semantic Scholar
A Comparative Analysis of Genetic Hearing Loss Phenotypes in European/American and Japanese Populations
W. D. Walls, Hideaki Moteki, Taylor R. Thomas, S. Nishio +17 more
2020Human Genetics17 citations Open access
Semantic Scholar
Structural Insights into Hearing Loss Genetics from Polarizable Protein Repacking
Mallory R. Tollefson, J. M. Litman, Guowei Qi, Claire O’Connell +8 more
2019bioRxiv17 citations Open access
Semantic Scholar
A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome
N. Canpolat, Ding-Xiao Liu, E. Atayar, S. Saygılı +16 more
2021Clinical Genetics12 citations Open access
Semantic Scholar
Incorporating language phenotypes strengthens evidence of linkage to autism.
Y. Bradford, J. Haines, H. Hutcheson, M. Gardiner +9 more
2001American journal of medical genetics12 citations
Semantic Scholar
Representative random sampling: an empirical evaluation of a novel bin stratification method for model performance estimation
M. Rendleman, Brian J. Smith, G. Canahuate, T. Braun +2 more
2022Statistics and computing11 citations Open access
Semantic Scholar
Esophageal cancer in a family with hamartomatous tumors and germline PTEN frameshift and SMAD7 missense mutations
S. Sherman, J. Maxwell, Q. Qian, A. Bellizzi +4 more
2014Cancer Genetics11 citations Open access
Semantic Scholar
Targeted Sequencing of FKBP5 in Suicide Attempters with Bipolar Disorder
M. Breen, Sophia C. Gaynor, Eric T. Monson, Kelly de Klerk +6 more
2016PLoS ONE10 citations Open access
Semantic Scholar
Prioritizing regions of candidate genes for efficient mutation screening
T. Braun, S. Shankar, Steve Davis, Brian O'Leary +5 more
2006Human Mutation10 citations Open access
Semantic Scholar

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