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Author Details

Barry Moore
Utah Center for Genetic Discovery, University of Utah
1978
52
30
PMIDPaper TitleJournal TitlePublished Year
36927505Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning.Genome Med2023
36869713DIS3 Variants are Associated With Primary Ovarian Insufficiency: Importance of Transcription/Translation in Oogenesis.J Clin Endocrinol Metab2023
35119225Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.Mol Genet Genomic Med2022
35869090A dominant negative ADIPOQ mutation in a diabetic family with renal disease, hypoadiponectinemia, and hyperceramidemia.NPJ Genom Med2022
36379720Rapid genome sequencing identifies a novel de novo <i>SNAP25</i> variant for neonatal congenital myasthenic syndrome.Cold Spring Harb Mol Case Stud2022
33263113Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias.HGG Adv2020
30664273Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.Hepatology2019
29240891Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation.J Clin Endocrinol Metab2018
29463208The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool.BMC Bioinformatics2018
28638771Electronic Ï¿-to-Ï¿* Excitations of Rhodamine Dyes Exhibit a Time-Dependent Kohn-Sham Theory "Cyanine Problem".ChemistryOpen2017
29367954<i>POLR2C</i> Mutations Are Associated With Primary Ovarian Insufficiency in Women.J Endocr Soc2017
26797752Large-Scale Synthesis of Helicene-Like Molecules for the Design of Enantiopure Thin Films with Strong Chiroptical Activity.Chemistry2016
25418503Acid/base-triggered switching of circularly polarized luminescence and electronic circular dichroism in organic and organometallic helicenes.Chemistry2015
26575765Charge-Transfer Versus Charge-Transfer-Like Excitations Revisited.J Chem Theory Comput2015
26437615Ruthenium-Grafted Vinylhelicenes: Chiroptical Properties and Redox Switching.Chemistry2015
26401751Association between marijuana use and adverse obstetrical and neonatal outcomes.J Perinatol2015
26229585Improving the Sequence Ontology terminology for genomic variant annotation.J Biomed Semantics2015
24675841TBX3 regulates splicing in vivo: a novel molecular mechanism for Ulnar-mammary syndrome.PLoS Genet2014
26588153Electronic Band Shapes Calculated with Optimally Tuned Range-Separated Hybrid Functionals.J Chem Theory Comput2014
26580376Performance of an Optimally Tuned Range-Separated Hybrid Functional for 0-0 Electronic Excitation Energies.J Chem Theory Comput2014
25501943Genome Annotation and Curation Using MAKER and MAKER-P.Curr Protoc Bioinformatics2014
24837662A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.Nat Biotechnol2014
24763993Using VAAST to Identify Disease-Associated Variants in Next-Generation Sequencing Data.Curr Protoc Hum Genet2014
24876127Coordinated control of senescence by lncRNA and a novel T-box3 co-repressor complex.Elife2014
24594138Pharmacogenomics of 17-alpha hydroxyprogesterone caproate for recurrent preterm birth prevention.Am J Obstet Gynecol2014
24667040An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.Genome Biol2014
23836555VAAST 2.0: improved variant classification and disease-gene identification using a conservation-controlled amino acid substitution matrix.Genet Epidemiol2013
26583416Longest-Wavelength Electronic Excitations of Linear Cyanines: The Role of Electron Delocalization and of Approximations in Time-Dependent Density Functional Theory.J Chem Theory Comput2013
23822514ImagePlane: an automated image analysis pipeline for high-throughput screens using the planarian Schmidtea mediterranea.J Comput Biol2013
22325721Novel venom peptides from the cone snail Conus pulicarius discovered through next-generation sequencing of its venom duct transcriptome.Mar Genomics2012
26605597Analysis of Optical Activity in Terms of Bonds and Lone-Pairs: The Exceptionally Large Optical Rotation of Norbornenone.J Chem Theory Comput2012
24551508Density functional study of tetraphenylporphyrin long-range exciton coupling.ChemistryOpen2012
21211914Mechanical-tactile stimulation (MTS) during neonatal stress prevents hyperinsulinemia despite stress-induced adiposity in weanling rat pups.Early Hum Dev2011
21794208Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.Discov Med2011
21700766A probabilistic disease-gene finder for personal genomes.Genome Res2011
21700266Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.Am J Hum Genet2011
21325948Global analysis of disease-related DNA sequence variation in 10 healthy individuals: implications for whole genome-based clinical diagnostics.Genet Med2011
20227202Uteroplacental insufficiency increases visceral adiposity and visceral adipose PPARgamma2 expression in male rat offspring prior to the onset of obesity.Early Hum Dev2010
20796305A standard variation file format for human genome sequences.Genome Biol2010
20494974SOBA: sequence ontology bioinformatics analysis.Nucleic Acids Res2010
20626842Genome sequence of the necrotrophic plant pathogen Pythium ultimum reveals original pathogenicity mechanisms and effector repertoire.Genome Biol2010
19236712Quantitative measures for the management and comparison of annotated genomes.BMC Bioinformatics2009
18025269MAKER: an easy-to-use annotation pipeline designed for emerging model organism genomes.Genome Res2008
18989397Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins.PLoS Comput Biol2008
17426130Comparison of approaches for rational siRNA design leading to a new efficient and transparent method.Nucleic Acids Res2007
16407312A functional -1 ribosomal frameshift signal in the human paraneoplastic Ma3 gene.J Biol Chem2006
12518051Genome-based peptide fingerprint scanning.Proc Natl Acad Sci U S A2003
12762024Overriding standard decoding: implications of recoding for ribosome function and enrichment of gene expression.Cold Spring Harb Symp Quant Biol2001
10764591Quadruplet codons: implications for code expansion and the specification of translation step size.J Mol Biol2000
10982884Decoding of tandem quadruplets by adjacent tRNAs with eight-base anticodon loops.Nucleic Acids Res2000
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Collaborators

Mark Yandell
University of Utah
Co-authored papers 27
Martin G Reese
Fabric Genomics Inc.
Co-authored papers 9
Lynn B Jorde
University of Utah School of Medicine
Co-authored papers 8
Hao Hu
Aerospace Center Hospital
Co-authored papers 7
Chad D Huff
University of Texas M.D. Anderson Cancer Center
Co-authored papers 6
Carson Holt
University of Utah
Co-authored papers 6
Karen Eilbeck
University of Utah
Co-authored papers 6
Jinchuan Xing
The State University of New Jersey
Co-authored papers 4
Andrew Farrell
Utah Center for Genetic Discovery, University of Utah
Co-authored papers 3
Gholson J Lyon
NYS Institute for Basic Research in Developmental Disabilities .
Co-authored papers 3
Kai Wang
University of Pennsylvania
Co-authored papers 3
Fidel Salas
University of Pennsylvania School of Medicine, Clinical Research Building
Co-authored papers 2
Hakon Hakonarson
The Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 2
Shawn Rynearson
University of Utah
Co-authored papers 2
Deborah W Neklason
Huntsman Cancer Institute
Co-authored papers 2
Jared C Roach
Institute for Systems Biology
Co-authored papers 2
John C Carey
Co-authored papers 2
Fiona Cunningham
European Bioinformatics Institute
Co-authored papers 2
Gustavo Glusman
Institute for Systems Biology
Co-authored papers 2
Francisco M De La Vega
Stanford University School of Medicine
Co-authored papers 2
Sarah Franklin
Co-authored papers 2
Sofia M C Robb
Stowers Institute for Medical Research
Co-authored papers 1
Aleksandar Rajkovic
Co-authored papers 1
Neil R Horner
MRC Harwell Institute
Co-authored papers 1
Catherine A Brownstein
Harvard Medical School.
Co-authored papers 1
Deepak Srivastava
Gladstone Institutes San Francisco
Co-authored papers 1
Christopher R Pierson
Co-authored papers 1
Michael F Murray
Yale School of Medicine
Co-authored papers 1
Anne E Kwitek
Medical College of Wisconsin
Co-authored papers 1
Isaac S Kohane
Harvard Medical School
Co-authored papers 1
Release 1.2