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Author Details

Mark Yandell
University of Utah
1994
147
62
Andrej Sali (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
38066578Assembly and annotation of 2 high-quality columbid reference genomes from sequencing of a Columba livia ÿ Columba guinea F1 hybrid.G3 (Bethesda)2024
38066578Assembly and annotation of 2 high-quality columbid reference genomes from sequencing of a Columba livia ÿ Columba guinea F1 hybrid.G3 (Bethesda)2024
36927505Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning.Genome Med2023
37758840Genetic and clinical variables act synergistically to impact neurodevelopmental outcomes in children with single ventricle heart disease.Commun Med (Lond)2023
37794265The status of the human gene catalogue.Nature2023
37873124Assembly and annotation of two high-quality columbid reference genomes from sequencing of a <i>Columba livia</i> x <i>Columba guinea</i> F<sub>1</sub> hybrid.bioRxiv2023
37689602Identification of sodium channel toxins from marine cone snails of the subgenera Textilia and Afonsoconus.Cell Mol Life Sci2023
37034657The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.medRxiv2023
37032361Neurite outgrowth deficits caused by rare PLXNB1 mutation in pediatric bipolar disorder.Mol Psychiatry2023
37385178An Explainable Artificial Intelligence Approach for Discovering Social Determinants of Health and Risk Interactions for Stroke in Patients With Atrial Fibrillation.Am J Cardiol2023
36869713DIS3 Variants are Associated With Primary Ovarian Insufficiency: Importance of Transcription/Translation in Oogenesis.J Clin Endocrinol Metab2023
36994150The status of the human gene catalogue.ArXiv2023
36930644An improved germline genome assembly for the sea lamprey Petromyzon marinus illuminates the evolution of germline-specific chromosomes.Cell Rep2023
36927505Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning.Genome Med2023
37758840Genetic and clinical variables act synergistically to impact neurodevelopmental outcomes in children with single ventricle heart disease.Commun Med (Lond)2023
37794265The status of the human gene catalogue.Nature2023
37689602Identification of sodium channel toxins from marine cone snails of the subgenera Textilia and Afonsoconus.Cell Mol Life Sci2023
37873124Assembly and annotation of two high-quality columbid reference genomes from sequencing of a <i>Columba livia</i> x <i>Columba guinea</i> F<sub>1</sub> hybrid.bioRxiv2023
37385178An Explainable Artificial Intelligence Approach for Discovering Social Determinants of Health and Risk Interactions for Stroke in Patients With Atrial Fibrillation.Am J Cardiol2023
37034657The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.medRxiv2023
37032361Neurite outgrowth deficits caused by rare PLXNB1 mutation in pediatric bipolar disorder.Mol Psychiatry2023
36994150The status of the human gene catalogue.ArXiv2023
36869713DIS3 Variants are Associated With Primary Ovarian Insufficiency: Importance of Transcription/Translation in Oogenesis.J Clin Endocrinol Metab2023
36930644An improved germline genome assembly for the sea lamprey Petromyzon marinus illuminates the evolution of germline-specific chromosomes.Cell Rep2023
34718612Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency.J Clin Endocrinol Metab2022
36036607Comprehensive Genomic Profiling of Cell-Free DNA in Men With Advanced Prostate Cancer: Differences in Genomic Landscape Based on Race.Oncologist2022
35373216An explainable artificial intelligence approach for predicting cardiovascular outcomes using electronic health records.PLOS Digit Health2022
35869090A dominant negative ADIPOQ mutation in a diabetic family with renal disease, hypoadiponectinemia, and hyperceramidemia.NPJ Genom Med2022
36185208Genomic landscape of advanced prostate cancer patients with BRCA1 versus BRCA2 mutations as detected by comprehensive genomic profiling of cell-free DNA.Front Oncol2022
34718612Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency.J Clin Endocrinol Metab2022
35119225Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.Mol Genet Genomic Med2022
35284934Family Screening After Sudden Death in a Population-Based Study of Children.Pediatrics2022
35373216An explainable artificial intelligence approach for predicting cardiovascular outcomes using electronic health records.PLOS Digit Health2022
35869090A dominant negative ADIPOQ mutation in a diabetic family with renal disease, hypoadiponectinemia, and hyperceramidemia.NPJ Genom Med2022
36036607Comprehensive Genomic Profiling of Cell-Free DNA in Men With Advanced Prostate Cancer: Differences in Genomic Landscape Based on Race.Oncologist2022
36185208Genomic landscape of advanced prostate cancer patients with BRCA1 versus BRCA2 mutations as detected by comprehensive genomic profiling of cell-free DNA.Front Oncol2022
35284934Family Screening After Sudden Death in a Population-Based Study of Children.Pediatrics2022
35119225Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.Mol Genet Genomic Med2022
33944920Elephant Genomes Reveal Accelerated Evolution in Mechanisms Underlying Disease Defenses.Mol Biol Evol2021
34157173Identification of Somatic Gene Signatures in Circulating Cell-Free DNA Associated with Disease Progression in Metastatic Prostate Cancer by a Novel Machine Learning Platform.Oncologist2021
33947700The genomic basis of evolutionary differentiation among honey bees.Genome Res2021
33944920Elephant Genomes Reveal Accelerated Evolution in Mechanisms Underlying Disease Defenses.Mol Biol Evol2021
33925651Common Variation in Cytoskeletal Genes is Associated with Conotruncal Heart Defects.Genes (Basel)2021
34510628Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.Hum Mutat2021
34459920Two Genomic Loci Control Three Eye Colors in the Domestic Pigeon (Columba livia).Mol Biol Evol2021
35252879A Poisson binomial-based statistical testing framework for comorbidity discovery across electronic health record datasets.Nat Comput Sci2021
34849253Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program.J Clin Transl Sci2021
34645491Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.Genome Med2021
34750360The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele.Nat Commun2021
33925651Common Variation in Cytoskeletal Genes is Associated with Conotruncal Heart Defects.Genes (Basel)2021
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Collaborators

Carson Holt
University of Utah
Co-authored papers 28
Barry Moore
Utah Center for Genetic Discovery, University of Utah
Co-authored papers 27
Hao Hu
Aerospace Center Hospital
Co-authored papers 18
Karen Eilbeck
University of Utah
Co-authored papers 13
Martin Tristani-Firouzi
Co-authored papers 13
Lynn B Jorde
University of Utah School of Medicine
Co-authored papers 12
Martin G Reese
Fabric Genomics Inc.
Co-authored papers 12
Chad D Huff
University of Texas M.D. Anderson Cancer Center
Co-authored papers 11
Qing Li
Co-authored papers 11
Baldomero M Olivera
Co-authored papers 11
Helena Safavi-Hemami
Co-authored papers 10
Steven L Salzberg
Center for Computational Biology, Johns Hopkins University
Co-authored papers 8
Chris Tyler-Smith
Wellcome Sanger Institute
Co-authored papers 6
Samuel D Robinson
Co-authored papers 6
Aleksey V Zimin
Center for Computational Biology, Johns Hopkins University
Co-authored papers 6
Jennifer R Wortman
Broad Institute of MIT and Harvard
Co-authored papers 6
Sofia M C Robb
Stowers Institute for Medical Research
Co-authored papers 5
Deborah Nusskern
Euclid Diagnostics LLC
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Eugene W Myers
Max Planck Institute of Molecular Cell Biology and Genetics
Co-authored papers 5
Gerald M Rubin
The University of Florida
Co-authored papers 5
Robert A Holt
BC Cancer Research Institute
Co-authored papers 5
Qi Zhao
Yunnan Institute of Tropical Crops
Co-authored papers 5
Suzanna E Lewis
Lawrence Berkeley National Laboratory
Co-authored papers 5
Peng Guan
College of Veterinary Medicine, Sichuan Agricultural University
Co-authored papers 5
Stephen M J Searle
Wellcome Trust Sanger Institute
Co-authored papers 5
Kevin L Childs
Center for Genomics-Enabled Plant Science, Michigan State University
Co-authored papers 5
Cheryl L Kraft
Co-authored papers 5
Francisco M De La Vega
Stanford University School of Medicine
Co-authored papers 5
Peter Li
Co-authored papers 5
Zhongwu Lai
Oncology R&D
Co-authored papers 5
Release 1.2