T. Braun

发表

Regulation of gene expression in the mammalian eye and its relevance to eye disease

V. Sheffield, T. Casavant, T. Scheetz, 2006, Proceedings of the National Academy of Sciences.

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).

Thomas L Casavant, Edwin M Stone, Todd E Scheetz, 2006, Proceedings of the National Academy of Sciences of the United States of America.

Genome-wide analysis of copy number variants in age-related macular degeneration

Young H. Kwon, V. Sheffield, T. Wassink, 2010, Human Genetics.

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).

Edwin M Stone, Val C Sheffield, Annie P. Chiang, 2004, American journal of human genetics.

A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations

T. Casavant, D. Kolbe, T. Braun, 2020, Human Genetics.

DRAFTFeedback-Enhanced Optimizationof Static Scheduling forParallel Computer

T. Braun, SystemsRichard, D. Dietz, 1995 .

Heterozygous Deep‐Intronic Variants and Deletions in ABCA4 in Persons with Retinal Dystrophies and One Exonic ABCA4 Variant

B. J. Klevering, C. Klaver, A. D. den Hollander, 2015, Human mutation.

AudioGene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening

Adam P. DeLuca, Christina M. Sloan, T. Casavant, 2013, Human mutation.

Optic nerve crush induces spatial and temporal gene expression patterns in retina and optic nerve of BALB/cJ mice

Alex H. Wagner, T. Braun, B. Faga, 2014, Molecular Neurodegeneration.

Incorporating language phenotypes strengthens evidence of linkage to autism.

S. Folstein, J. Piven, V. Sheffield, 2001, American journal of medical genetics.

Altered gene expression in dry age-related macular degeneration suggests early loss of choroidal endothelial cells

T. Scheetz, T. Braun, E. Stone, 2013, Molecular vision.

Presacral neuroendocrine tumors associated with the Currarino syndrome

D. Metz, T. Braun, A. Bellizzi, 2021, American journal of medical genetics. Part A.

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss

Adam P. DeLuca, Corey W. Goodman, Bruce W. Tompkins, 2011, Human mutation.

Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa

T. Braun, E. Stone, B. Tucker, 2013, eLife.

Prioritization of Retinal Disease Genes: An Integrative Approach

Adam P. DeLuca, T. Casavant, T. Scheetz, 2013, Human mutation.

Progressive morphological changes and impaired retinal function associated with temporal regulation of gene expression after retinal ischemia/reperfusion injury in mice

Byung-Jin Kim, Terry A Braun, Robert J Wordinger, 2013, Molecular Neurodegeneration.

An autosomal genomic screen for autism.

S. Folstein, J. Piven, V. Sheffield, 1999, American journal of medical genetics.

An autosomal genomic screen for autism. Collaborative linkage study of autism.

S. Folstein, J. Piven, V. Sheffield, 1999, American journal of medical genetics.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Adam P. DeLuca, Matthew S. Lebo, Janeen L Andorf, 2014, Genome Biology.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

Gene transcript clustering: a comparison of parallel approaches

Thomas L. Casavant, Kevin T. Pedretti, Todd E. Scheetz, 2005, Future Gener. Comput. Syst..

Alternative Parallelization Strategies in EST Clustering

Thomas L. Casavant, Kevin T. Pedretti, Todd E. Scheetz, 2003, PaCT.

Structural Insights into Hearing Loss Genetics from Polarizable Protein Repacking

Thomas L. Casavant, Terry A. Braun, Guowei Qi, 2019, bioRxiv.

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

Val C. Sheffield, Edwin M. Stone, Anne B. Fulton, 2002, Nature Genetics.

Genomics of NSCLC patients both affirm PD-L1 expression and predict their clinical responses to anti-PD-1 immunotherapy

Andrea R. Hallier, T. Braun, T. Chan, 2018, BMC Cancer.

Changes in gene expression in small bowel neuroendocrine tumors associated with progression to metastases

T. Braun, A. Bellizzi, P. Breheny, 2018, Surgery.

Vision Variation Database (VVD)

Todd E. Scheetz, Adam P. DeLuca, Edwin M. Stone, 2013 .

Transcript Annotation Prioritization and Screening System (TRApss) for Mutation Screening

Thomas L. Casavant, Todd E. Scheetz, Val C. Sheffield, 2007, J. Bioinform. Comput. Biol..

Prioritizing Regions of Candidate Genes for Mutation Screening Running title : Prioritizing Regions of Candidate Genes

T. Casavant, T. Scheetz, T. Braun, 2004 .

Genome‐wide identification of pseudogenes capable of disease‐causing gene conversion

Annie P. Chiang, V. Sheffield, T. Casavant, 2006, Human mutation.

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

T. Casavant, D. Kolbe, T. Braun, 2018, American journal of human genetics.

Targeted Sequencing of FKBP5 in Suicide Attempters with Bipolar Disorder

Adam P. DeLuca, V. Willour, J. Potash, 2016, PloS one.

Cordova: Web-based management of genetic variation data

Richard J. H. Smith, Thomas L. Casavant, Todd E. Scheetz, 2014, Bioinform..

Sequencing and disease variation detection tools and techniques

Thomas L. Casavant, Alex H. Wagner, Todd E. Scheetz, 2011, 2011 9th IEEE/ACS International Conference on Computer Systems and Applications (AICCSA).

Gene Expression Signatures Identify Novel Therapeutics for Metastatic Pancreatic Neuroendocrine Tumors

T. Braun, A. Bellizzi, P. Breheny, 2020, Clinical Cancer Research.

Advancing genetic testing for deafness with genomic technology

Adam P. DeLuca, Christina M. Sloan, T. Casavant, 2013, Journal of Medical Genetics.

Prediction of cochlear implant performance by genetic mutation: The spiral ganglion hypothesis

Adam P. DeLuca, S. Scherer, T. Casavant, 2012, Hearing Research.

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.

Adam P. DeLuca, S Scott Whitmore, Adam P DeLuca, 2017, Ophthalmology.

Parallel creation of non-redundant gene indices from partial mRNA transcripts

Jared Bischof, Thomas L. Casavant, Kevin T. Pedretti, 2002, Future Gener. Comput. Syst..

Incorporating language phenotypes strengthens evidence of linkage to autism.

S. Folstein, J. Piven, V. Sheffield, 2001, American journal of medical genetics.

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly.

Annie P. Chiang, V. Sheffield, T. Casavant, 2004, Proceedings of the National Academy of Sciences of the United States of America.

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

Thomas L Casavant, Todd E Scheetz, E Ann Black-Ziegelbein, 2014, American journal of human genetics.

Calpain-5 Mutations Cause Autoimmune Uveitis, Retinal Neovascularization, and Photoreceptor Degeneration

V. Sheffield, A. Bassuk, V. Mahajan, 2012, PLoS genetics.

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4

Alfonso Baldi, Val C. Sheffield, Edwin M. Stone, 2001, Nature Genetics.

Evidence supporting WNT2 as an autism susceptibility gene.

S. Folstein, J. Piven, V. Sheffield, 2001, American journal of medical genetics.

Assessing Variants of Uncertain Significance Implicated in Hearing Loss Using a Comprehensive Deafness Proteome

Mallory R. Tollefson, Amy E. Weaver, T. Casavant, 2023, Research square.

Audioprofile Surfaces

Adam P. DeLuca, Allen C. Simpson, T. Casavant, 2016, The Annals of otology, rhinology, and laryngology.

Audioprofile Surfaces: The 21st Century Audiogram

Allen C. Simpson, T. Casavant, T. Scheetz, 2015 .

Using the Phenome and Genome to Improve Genetic Diagnosis for Deafness

Adam P. DeLuca, T. Casavant, T. Scheetz, 2012, Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery.

Prioritizing regions of candidate genes for efficient mutation screening

Brian O'Leary, V. Sheffield, T. Casavant, 2006, Human mutation.

A Genome-Wide Association Study for Primary Open Angle Glaucoma and Macular Degeneration Reveals Novel Loci

V. Sheffield, T. Casavant, T. Scheetz, 2013, PloS one.

Copy number variations and primary open-angle glaucoma.

Young H. Kwon, Edwin M Stone, Todd E Scheetz, 2011, Investigative ophthalmology & visual science.

Esophageal cancer in a family with hamartomatous tumors and germline PTEN frameshift and SMAD7 missense mutations.

M. Iannettoni, T. Braun, A. Bellizzi, 2015, Cancer genetics.

A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations

T. Casavant, D. Kolbe, T. Braun, 2020, Human Genetics.

Missense variations in the fibulin 5 gene and age-related macular degeneration.

V. Sheffield, T. Casavant, S. Russell, 2004, The New England journal of medicine.

A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome

T. Braun, M. Attanasio, R. Topaloğlu, 2021, Clinical genetics.

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease

Adam P. DeLuca, V. Sheffield, A. Cideciyan, 2013, Human molecular genetics.

Creation and validation of models to predict response to primary treatment in serous ovarian cancer

Brian J. Smith, T. Braun, K. Thiel, 2021, Scientific Reports.

Exon-level expression profiling of ocular tissues.

Adam P. DeLuca, T. Casavant, T. Scheetz, 2013, Experimental eye research.

Differentiation of small bowel and pancreatic neuroendocrine tumors by gene-expression profiling.

P. Spanheimer, T. Braun, Molly E. Martin, 2012, Surgery.

Genetic characterization of commonly used glioma cell lines in the rat animal model system.

T. Ryken, T. Casavant, T. Braun, 2005, Neurosurgical focus.

Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq.

Adam P. DeLuca, T. Scheetz, T. Braun, 2014, Experimental eye research.

Machine learning with the TCGA-HNSC dataset: improving usability by addressing inconsistency, sparsity, and high-dimensionality

Thomas L. Casavant, Terry A. Braun, John M. Buatti, 2019, BMC Bioinformatics.

RABL6A inhibits tumor-suppressive PP2A/AKT signaling to drive pancreatic neuroendocrine tumor growth

F. Zhan, T. Braun, A. Bellizzi, 2019, The Journal of clinical investigation.

Optic nerve crush induces spatial and temporal gene expression patterns in retina and optic nerve of BALB/cJ mice

T. Braun, B. Faga, A. Clark, 2014, Molecular Neurodegeneration.

A Comparison of Gene Expression Profiles between Glucocorticoid Responder and Non-Responder Bovine Trabecular Meshwork Cells Using RNA Sequencing

Hannah C. Webber, T. Braun, A. Clark, 2017, PloS one.

Protein expression in a transformed trabecular meshwork cell line: proteome analysis.

Jason A. Grundstad, T. Casavant, T. Braun, 2006, Molecular vision.

XenoCluster: A Grid Computing Approach to Finding Ancient Evolutionary Genetic Anomalies

Thomas L. Casavant, John P. Robinson, Todd E. Scheetz, 2005, PaCT.

Identifying Candidate Disease Genes with High-Performance Computing

Thomas L. Casavant, Todd E. Scheetz, Val C. Sheffield, 2003, The Journal of Supercomputing.

Modeling the impact of run-time uncertainty on optimal computation scheduling using feedback

Thomas L. Casavant, Todd E. Scheetz, Terry A. Braun, 1997, Proceedings of the 1997 International Conference on Parallel Processing (Cat. No.97TB100162).

Linkage Analysis of the X Chromosome in a Brazilian Family With Leber Hereditary Optic Neuropathy (LHON)

T. Braun, E. Stone, S. Daiger, 2005 .

A TFAP2C Gene Signature Is Predictive of Outcome in HER2-Positive Breast Cancer

R. Weigel, T. Braun, V. Band, 2019, Molecular Cancer Research.

Machine learning with the TCGA-HNSC dataset: improving usability by addressing inconsistency, sparsity, and high-dimensionality

Brian J. Smith, J. Buatti, T. Casavant, 2019, BMC Bioinformatics.

Representative random sampling: an empirical evaluation of a novel bin stratification method for model performance estimation

Brian J. Smith, J. Buatti, T. Casavant, 2022, Statistics and Computing.

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).

Annie P. Chiang, V. Sheffield, T. Casavant, 2004, American journal of human genetics.

Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor–like Gene as the Cause of Bardet-Biedl Syndrome (BBS3)

Annie P. Chiang, V. Sheffield, T. Casavant, 2004 .

Informatics methods to enable sharing of quantitative imaging research data.

Fernando Boada, Andre Dekker, Charles Laymon, 2012, Magnetic resonance imaging.

AudioGene: Computer-based prediction of genetic factors involved in non-syndromic hearing impairment

Richard J. H. Smith, Thomas L. Casavant, Todd E. Scheetz, 2011, 2011 9th IEEE/ACS International Conference on Computer Systems and Applications (AICCSA).

Esophageal cancer in a family with hamartomatous tumors and germline PTEN frameshift and SMAD7 missense mutations.

M. Iannettoni, T. Braun, A. Bellizzi, 2015, Cancer genetics.

Copy number variations and primary open-angle glaucoma.

Young H. Kwon, V. Sheffield, T. Wassink, 2011, Investigative Ophthalmology and Visual Science.

Informatics methods to enable sharing of quantitative imaging research data.

Matthew J. Oborski, J. Mountz, F. Fennessy, 2012, Magnetic resonance imaging.

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome

Mallory R. Tollefson, Amy E. Weaver, T. Casavant, 2023, Human Genetics.

Prioritization of Retinal Disease Genes: An Integrative Approach

Adam P. DeLuca, T. Casavant, T. Scheetz, 2013, Human mutation.