KW
Kim C. Worley
GenomeEvolution, MolecularGenome, InsectGenomicsSequence Analysis, DNAgenomicsGenome, HumanBiological EvolutionDatabases, FactualGenetic Variation
On Valency
published · living versionsW_26xzgw86·v1 · currentpublished
Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species
with Keith R. Bradnam, Joseph N. Fass, Anton Alexandrov, Paul Baranay +86
1 version
Preprints & journals
148 papers in the corpus · 1991–2026Mapping long-read sequences to a complete reference genome reveals uncaptured variants across the β-Globin cluster in Africans with sickle cell disease.42693638 · Lurie, Pamela, Mahmoud, Medhat, Haldipur, Aparna et al.2026 · 0 citationsHGG advances. 2026;7(4):100669
Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.42696042 · Hull, Sarah, Mero, M, Hankey, W et al.2026 · 0 citationsHuman genetics. 2026;145(1)
Cross-Species Efficacy of Combinatorial Gene Therapy for Osteoarthritis and Correction of Neuro-Inflammatory Pain Mechanisms.42619767 · Secor, Erica, Wang, Jun, Dou, Zelong et al.2026 · 0 citationsbioRxiv : the preprint server for biology. 2026
The All of Us Evenings with Genetics Research Program.42534548 · Lloyd, Stacy M, Baker, Jasmine, Jorgez, Carolina et al.2026 · 0 citationsJournal of clinical and translational science. 2026;10(1):e125
Identification of cis-regulatory elements provides insights into tissue-specific gene regulation in the sheep genome.41839849 · Xie, Shangqian, Davenport, Kimberly M, Salavati, Mazdak et al.2026 · 7 citationsNature communications. 2026;17(1)
Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.40862571 · Ma, Mengqi, Zheng, Yiming, Deng, Mingxi et al.2025 · 3 citationseLife. 2025;13
Implementing a training resource for large-scale genomic data analysis in the All of Us Researcher Workbench.40701146 · Baker, Jasmine, Stricker, Erik, Coleman, Julie et al.2025 · 0 citationsAmerican journal of human genetics. 2025;112(9):2001-2009
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.40672495 · Fielder, Sara M, Friederich, Marisa W, Hock, Daniella H et al.2025 · 10 citationsmedRxiv : the preprint server for health sciences. 2025
A guide to developing harmonized research workflows in a team science context.40482901 · Ruiz, Oscar E, Wagenaar, Joost B, Mehta, Bella et al.2025 · 2 citationsExperimental neurology. 2025;392:115333
The SHR/Akr Y chromosome reveals repeated turnover of the rat pseudoautosomal region.40501880 · Bellott, Daniel W, Skaletsky, Helen, Hughes, Jennifer F et al.2025 · 2 citationsbioRxiv : the preprint server for biology. 2025
Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.38260438 · Ma, Mengqi, Zheng, Yiming, Deng, Mingxi et al.2025 · 3 citationsmedRxiv : the preprint server for health sciences. 2025
The Utility of Ultra-Deep RNA sequencing in Mendelian Disorder Diagnostics.39974001 · Zhao, Sen, Sinson, Jefferson C, Li, Shenglan et al.2025 · 4 citationsmedRxiv : the preprint server for health sciences. 2025
Experiences in providing a community educational resource for the All of Us Researcher Workbench.39259934 · Ritter, Deborah I, Byun, Jinyoung, Wang, Jun et al.2024 · 2 citationsJournal of the American Medical Informatics Association : JAMIA. 2024;31(12):2952-2957
Development and evaluation of a training curriculum to engage researchers on accessing and analyzing the All of Us data.39269931 · Coleman, Julie R, Baker, Jasmine N, Ketkar, Shamika et al.2024 · 3 citationsJournal of the American Medical Informatics Association : JAMIA. 2024;31(12):2857-2868
Exploring the complexity of systemic sclerosis etiology by trio whole genome sequencing.38970828 · Dai, Hongzheng, Ketkar, Shamika, Tan, Taotao et al.2024 · 1 citationHuman molecular genetics. 2024;33(19):1643-1647
Continuing education and professional development: Unifying opportunities for genetic counselors globally.39712969 · Valverde, Kathleen D, Hartman, Tiffiney R, Reichert, Sara L et al.2026 · 3 citationsGenetics in medicine open. 2024;2(Suppl 2):101854
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.38593811 · Li, Shenglan, Zhao, Sen, Sinson, Jefferson C et al.2024 · 30 citationsAmerican journal of human genetics. 2024;111(5):841-862
A comparative study of structural variant calling in WGS from Alzheimer's disease families.38418088 · Malamon, John S, Farrell, John J, Xia, Li Charlie et al.2024 · 5 citationsLife science alliance. 2024;7(5)
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.37873138 · LaFlamme, Christy W, Rastin, Cassandra, Sengupta, Soham et al.2026 · 31 citationsmedRxiv : the preprint server for health sciences. 2023
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.37316189 · Mohajeri, Arezoo, Vaseghi-Shanjani, Maryam, Rosenfeld, Jill A et al.2024 · 13 citationsJournal of medical genetics. 2023;60(11):1092-1104
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.36065636 · Kumar, Runjun D, Meng, Linyan, Liu, Pengfei et al.2022 · 6 citationsAmerican journal of medical genetics. Part A. 2022;188(11):3184-3190
Author Correction: Comparative and demographic analysis of orang-utan genomes.35962045 · Locke, Devin P, Hillier, LaDeana W, Warren, Wesley C et al.2023 · 2 citationsNature. 2022;608(7924):E36
A comparative study of structural variant calling strategies using the Alzheimer's Disease Sequencing Project's whole genome family data10.1101/2022.05.19.492472v1 · Malamon, J. S., Farrell, J. J., Xia, L. C. et al.2022 · 1 citationbioRxiv
LMOD2-related dilated cardiomyopathy presenting in late infancy.35188328 · Lay, Erica, Azamian, Mahshid S, Denfield, Susan W et al.2022 · 19 citationsAmerican journal of medical genetics. Part A. 2022;188(6):1858-1862
An improved ovine reference genome assembly to facilitate in-depth functional annotation of the sheep genome.35134925 · Davenport, Kimberly M, Bickhart, Derek M, Worley, Kim et al.2022 · 89 citationsGigaScience. 2022;11
The genomic basis of evolutionary differentiation among honey bees.33947700 · Fouks, Bertrand, Brand, Philipp, Nguyen, Hung N et al.2023 · 35 citationsGenome research. 2021;31(7):1203-1215
Comparative genomic analysis of sifakas (Propithecus) reveals selection for folivory and high heterozygosity despite endangered status.33893095 · Guevara, Elaine E, Webster, Timothy H, Lawler, Richard R et al.2022 · 35 citationsScience advances. 2021;7(17)
Consultagene: Pre- and Post-Pandemic Experience with a Web-based Platform and Remote Delivery of Genetic Services10.1101/2021.01.20.21249267v1 · Worley, K. C., Riconda, D. L., Wallis, A. M. et al.2021 · 1 citationmedRxiv
Primate phylogenomics uncovers multiple rapid radiations and ancient interspecific introgression.33270638 · Vanderpool, Dan, Minh, Bui Quang, Lanfear, Robert et al.2021 · 97 citationsPLoS biology. 2020;18(12):e3000954
Sequence analysis in Bos taurus reveals pervasiveness of X-Y arms races in mammalian lineages.33208454 · Hughes, Jennifer F, Skaletsky, Helen, Pyntikova, Tatyana et al.2021 · 43 citationsGenome research. 2020;30(12):1716-1726
Correction to: Genome-enabled insights into the biology of thrips as crop pests.33198778 · Rotenberg, Dorith, Baumann, Aaron A, Ben-Mahmoud, Sulley et al.2020 · 4 citationsBMC biology. 2020;18(1):169
Global Analysis of Transcription Start Sites in the New Ovine Reference Genome (Oar rambouillet v1.0).33193703 · Salavati, Mazdak, Caulton, Alex, Clark, Richard et al.2025 · 30 citationsFrontiers in genetics. 2020;11:580580
Genome-enabled insights into the biology of thrips as crop pests.33070780 · Rotenberg, Dorith, Baumann, Aaron A, Ben-Mahmoud, Sulley et al.2021 · 103 citationsBMC biology. 2020;18(1):142
Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.31636380 · Bis, Joshua C, Jian, Xueqiu, Kunkle, Brian W et al.2021 · 9 citationsMolecular psychiatry. 2020;25(8):1901-1903
Sawfly Genomes Reveal Evolutionary Acquisitions That Fostered the Mega-Radiation of Parasitoid and Eusocial Hymenoptera.32442304 · Oeyen, Jan Philip, Baa-Puyoulet, Patrice, Benoit, Joshua B et al.2021 · 26 citationsGenome biology and evolution. 2020;12(7):1099-1188
Loss of the Polyketide Synthase StlB Results in Stalk Cell Overproduction in Polysphondylium violaceum.32386295 · Narita, Takaaki B, Kawabe, Yoshinori, Kin, Koryu et al.2021 · 15 citationsGenome biology and evolution. 2020;12(5):674-683
Brown marmorated stink bug, Halyomorpha halys (Stål), genome: putative underpinnings of polyphagy, insecticide resistance potential and biology of a top worldwide pest.32171258 · Sparks, Michael E, Bansal, Raman, Benoit, Joshua B et al.2020 · 99 citationsBMC genomics. 2020;21(1):227
Unusual sequence characteristics of human chromosome 19 are conserved across 11 nonhuman primates.32106815 · Harris, R Alan, Raveendran, Muthuswamy, Worley, Kim C et al.2020 · 43 citationsBMC evolutionary biology. 2020;20(1):33
Gene content evolution in the arthropods.31969194 · Thomas, Gregg W C, Dohmen, Elias, Hughes, Daniel S T et al.2021 · 233 citationsGenome biology. 2020;21(1):15
Molecular evolutionary trends and feeding ecology diversification in the Hemiptera, anchored by the milkweed bug genome.30935422 · Panfilio, Kristen A, Vargas Jentzsch, Iris M, Benoit, Joshua B et al.2019 · 131 citationsGenome biology. 2019;20(1):64
The comparative genomics and complex population history of Papio baboons.30854422 · Rogers, Jeffrey, Raveendran, Muthuswamy, Harris, R Alan et al.2020 · 156 citationsScience advances. 2019;5(1):eaau6947
Spontaneous Spongiform Brainstem Degeneration in a Young Mouse Lemur (Microcebus murinus) with Conspicuous Behavioral, Motor, Growth, and Ocular Pathologies.30486920 · Schmidtke, Daniel, Lempp, Charlotte, Dubicanac, Marko et al.2019 · 6 citationsComparative medicine. 2018;68(6):489-495
The genome of the water strider Gerris buenoi reveals expansions of gene repertoires associated with adaptations to life on the water.30463532 · Armisén, David, Rajakumar, Rajendhran, Friedrich, Markus et al.2019 · 57 citationsBMC genomics. 2018;19(1):832
Reproductive Longevity Predicts Mutation Rates in Primates.30270182 · Thomas, Gregg W C, Wang, Richard J, Puri, Arthi et al.2019 · 106 citationsCurrent biology : CB. 2018;28(19):3193-3197.e5
Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.30108311 · Bis, Joshua C, Jian, Xueqiu, Kunkle, Brian W et al.2021 · 247 citationsMolecular psychiatry. 2020;25(8):1859-1875
Comparative genomics of the miniature wasp and pest control agent Trichogramma pretiosum.29776407 · Lindsey, Amelia R I, Kelkar, Yogeshwar D, Wu, Xin et al.2019 · 71 citationsBMC biology. 2018;16(1):54
The Toxicogenome of Hyalella azteca: A Model for Sediment Ecotoxicology and Evolutionary Toxicology.29634279 · Poynton, Helen C, Hasenbein, Simone, Benoit, Joshua B et al.2019 · 117 citationsEnvironmental science & technology. 2018;52(10):6009-6022
A computational reconstruction of Papio phylogeny using Alu insertion polymorphisms.29632618 · Jordan, Vallmer E, Walker, Jerilyn A, Beckstrom, Thomas O et al.2022 · 24 citationsMobile DNA. 2018;9:13
Sheep genome functional annotation reveals proximal regulatory elements contributed to the evolution of modern breeds.29491421 · Naval-Sanchez, Marina, Nguyen, Quan, McWilliam, Sean et al.2018 · 128 citationsNature communications. 2018;9(1):859
Hemimetabolous genomes reveal molecular basis of termite eusociality.29403074 · Harrison, Mark C, Jongepier, Evelien, Robertson, Hugh M et al.2019 · 295 citationsNature ecology & evolution. 2018;2(3):557-566
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