JK
Jacob O. Kitzman
Genetic VariationgenomicsClonal HematopoiesisGene Dosagegenetic and genomic medicinegeneticsMutationvariants of uncertain significanceEvolution, MolecularGenome, Human
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
87 papers in the corpus · 2007–2026Mapping and rewiring the MYBPC3 promoter for rescue of haploinsufficiency driven hypertrophic cardiomyopathy.42818042 · Renberg, Aaron, Coppersmith, Savannah, Merritt, Owen et al.2026 · 0 citationsbioRxiv : the preprint server for biology. 2026
Saturation Genome Editing reveals the functional impact of RAD51D and XRCC2 variants.42327150 · Casadei, Silvia, Snyder, Matthew W, Woo, Ivan et al.2026 · 0 citationsbioRxiv : the preprint server for biology. 2026
Association of Clonal Hematopoiesis with Total and Cause-Specific Mortality Among Older Women10.64898/2026.05.28.26354392v1 · Chang, A., Ezzat, D., Uddin, M. M. et al.2026 · 0 citationsmedRxiv
Peroxisome-derived ether lipids regulate lysosomal exocytosis.42069866 · Chen, Liang, Henn, Danielle, Dong, Zhongzheng et al.2026 · 1 citationThe EMBO journal. 2026;45(11):3699-3730
Metformin Does Not Significantly Alter Longitudinal Dynamics of Clonal Hematopoiesis.41603726 · Pareek, Eshani, Pershad, Yash, Zhao, Kun et al.2026 · 2 citationsClinical cancer research : an official journal of the American Association for Cancer Research. 2026;32(9):1724-1728
Lipid metabolism transcriptomic signature of defective erythropoiesis in Diamond Blackfan anemia syndrome.41576344 · Deng, Kaiwen, Wang, Yu, Min, Joseph C et al.2026 · 0 citationsBlood advances. 2026;10(7):2272-2285
High-throughput mapping of 6,888 RAD51D variants identifies distinct biochemical functions needed for homologous recombination and olaparib response.41542474 · Darrah, Kristie E, Hemker, Shelby L, Rawal, Yashpal et al.2026 · 1 citationbioRxiv : the preprint server for biology. 2026
Massively parallel reporter assay reveals promoter-, position-, and strand-specific effects in transcription start sites.41279449 · Bose, Maya, Tovar, Adelaide, Kyono, Yasuhiro et al.2025 · 0 citationsbioRxiv : the preprint server for biology. 2025
Clonal hematopoiesis of indeterminate potential and the risk of cognitive impairment in the Women's Health Initiative Memory Study.41025350 · Jakubek, Yasminka A, Smith, Aaron P, Leng, Xiaoyan I et al.2025 · 9 citationsAlzheimer's & dementia : the journal of the Alzheimer's Association. 2025;21(10):e70737
Using a modular massively parallel reporter assay to discover context-dependent regulatory activity in type 2 diabetes-linked noncoding regions.37873175 · Tovar, Adelaide, Kyono, Yasuhiro, Nishino, Kirsten et al.2026 · 3 citationsbioRxiv : the preprint server for biology. 2025
Clonal Hematopoiesis and Cardiovascular Outcomes in Older Women.40864016 · Ezzat, Daniel, Uddin, Md Mesbah, Xue, Liying et al.2025 · 26 citationsJournal of the American College of Cardiology. 2025;86(15):1093-1106
Role of PROP1 in Postnatal Pituitary Gland Maturation.40048699 · Winningham, Amanda Helen, Rhoads, Eve Camper, Brinkmeier, Michelle Lynn et al.2025 · 1 citationEndocrinology. 2025;166(9)
Correlates and consequences of clonal hematopoiesis expansion rate: a 16-year longitudinal study of 6976 women.40499013 · Pershad, Yash, Uddin, Md Mesbah, Xue, Liying et al.2025 · 29 citationsBlood. 2025;146(9):1078-1087
A lipid metabolism defect is an underlying contributor to Diamond Blackfan anemia syndrome.40502144 · Deng, Kaiwen, Wang, Yu, Min, Joseph C et al.2026 · 1 citationbioRxiv : the preprint server for biology. 2025
Saturation mapping of MUTYH variant effects using DNA repair reporters.40093110 · Hemker, Shelby L, Marsh, Ashley, Hernandez, Felicia et al.2025 · 11 citationsbioRxiv : the preprint server for biology. 2025
Functional dissection of metabolic trait-associated gene regulation in steady state and stimulated human skeletal muscle cells.39677760 · Nishino, Kirsten, Kitzman, Jacob O, Parker, Stephen C J et al.2026 · 3 citationsbioRxiv : the preprint server for biology. 2025
Correlates and Consequences of Clonal Hematopoiesis Expansion Rate: A 15-Year Longitudinal Study of 6,986 Women.39867366 · Pershad, Yash, Uddin, Md Mesbah, Xue, Liying et al.2025 · 1 citationmedRxiv : the preprint server for health sciences. 2025
Protein family FAM241 in human and mouse.39715844 · Doctrove, Quinlan, Park, Young, Calame, Daniel G et al.2025 · 1 citationMammalian genome : official journal of the International Mammalian Genome Society. 2025;36(1):83-92
Population-scale skeletal muscle single-nucleus multi-omic profiling reveals extensive context specific genetic regulation.38168419 · Varshney, Arushi, Manickam, Nandini, Orchard, Peter et al.2026 · 17 citationsbioRxiv : the preprint server for biology. 2024
Variable patterns of retrotransposition in different HeLa strains provide mechanistic insights into SINE RNA mobilization processes.38746229 · Moldovan, John B, Kopera, Huira C, Liu, Ying et al.2026 · 10 citationsbioRxiv : the preprint server for biology. 2024
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.38334070 · Accogli, Andrea, Park, Young N, Lenk, Guy M et al.2024 · 12 citationsGenetics in medicine : official journal of the American College of Medical Genetics. 2024;26(5):101097
A maternal germline mutator phenotype in a family affected by heritable colorectal cancer.38196581 · Young, Candice L, Beichman, Annabel C, Mas-Ponte, David et al.2026 · 8 citationsmedRxiv : the preprint server for health sciences. 2024
High-Throughput Splicing Assays Identify Known and Novel WT1 Exon 9 Variants in Nephrotic Syndrome.37850022 · Smith, Cathy, Burugula, Bala Bharathi, Dunn, Ian et al.2024 · 13 citationsKidney international reports. 2023;8(10):2117-2125
Benchmarking splice variant prediction algorithms using massively parallel splicing assays.37205456 · Smith, Cathy, Kitzman, Jacob O2024 · 42 citationsbioRxiv : the preprint server for biology. 2023
Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis.37046083 · Weinstock, Joshua S, Gopakumar, Jayakrishnan, Burugula, Bala Bharathi et al.2023 · 114 citationsNature. 2023;616(7958):755-763
Disruption of RNA Splicing Is an Important Contributor to Congenital Hypopituitarism and Other Human Genetic Diseases.36857601 · Camper, Sally A, Smith, Cathy, Kitzman, Jacob O2023 · 2 citationsEndocrinology. 2023;164(5)
Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.36550560 · Scott, Anthony, Hernandez, Felicia, Chamberlin, Adam et al.2022 · 36 citationsGenome biology. 2022;23(1):266
Clonal hematopoiesis of indeterminate potential and risk of death from COVID-19.36096050 · Miller, Peter G, Fell, Geoffrey G, Foy, Brody H et al.2022 · 22 citationsBlood. 2022;140(18):1993-1997
Gene amplification acts as a molecular foothold to facilitate cross-species adaptation and evasion of multiple antiviral pathways.35702158 · Banerjee, Shefali, Smith, Cathy, Geballe, Adam et al.2024 · 8 citationsbioRxiv : the preprint server for biology. 2022
GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway.36096887 · Zhang, Weichao, Yang, Xi, Li, Yingxiang et al.2023 · 42 citationsNature communications. 2022;13(1):5351
Longitudinal profiling of clonal hematopoiesis provides insight into clonal dynamics.35610705 · Uddin, Md Mesbah, Zhou, Ying, Bick, Alexander G et al.2024 · 70 citationsImmunity & ageing : I & A. 2022;19(1):23
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.34270938 · Gergics, Peter, Smith, Cathy, Bando, Hironori et al.2021 · 50 citationsAmerican journal of human genetics. 2021;108(8):1526-1539
Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.33729509 · Vishnopolska, Sebastian Alexis, Mercogliano, Maria Florencia, Camilletti, Maria Andrea et al.2021 · 32 citationsThe Journal of clinical endocrinology and metabolism. 2021;106(7):1956-1976
A Transcription Start Site Map in Human Pancreatic Islets Reveals Functional Regulatory Signatures.33849996 · Varshney, Arushi, Kyono, Yasuhiro, Elangovan, Venkateswaran Ramamoorthi et al.2021 · 12 citationsDiabetes. 2021;70(7):1581-1591
Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes.33707633 · Bick, Alexander G, Weinstock, Joshua S, Nandakumar, Satish K et al.2026 · 5 citationsNature. 2021;591(7851):E27
Chromatin information content landscapes inform transcription factor and DNA interactions.33637709 · D'Oliveira Albanus, Ricardo, Kyono, Yasuhiro, Hensley, John et al.2021 · 36 citationsNature communications. 2021;12(1):1307
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.33357406 · Jia, Xiaoyan, Burugula, Bala Bharathi, Chen, Victor et al.2021 · 133 citationsAmerican journal of human genetics. 2021;108(1):163-175
Inherited causes of clonal haematopoiesis in 97,691 whole genomes.33057201 · Bick, Alexander G, Weinstock, Joshua S, Nandakumar, Satish K et al.2021 · 731 citationsNature. 2020;586(7831):763-768
SOX10-regulated promoter use defines isoform-specific gene expression in Schwann cells.32770939 · Fogarty, Elizabeth A, Kitzman, Jacob O, Antonellis, Anthony2021 · 21 citationsBMC genomics. 2020;21(1):549
Elevated exopolysaccharide levels in Pseudomonas aeruginosa flagellar mutants have implications for biofilm growth and chronic infections.32530919 · Harrison, Joe J, Almblad, Henrik, Irie, Yasuhiko et al.2020 · 81 citationsPLoS genetics. 2020;16(6):e1008848
Quantification, Dynamic Visualization, and Validation of Bias in ATAC-Seq Data with ataqv.32213349 · Orchard, Peter, Kyono, Yasuhiro, Hensley, John et al.2021 · 92 citationsCell systems. 2020;10(3):298-306.e4
Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models.31557132 · Morelli, Kathryn H, Griffin, Laurie B, Pyne, Nettie K et al.2020 · 70 citationsThe Journal of clinical investigation. 2019;129(12):5568-5583
CRISPR knockout screen implicates three genes in lysosome function.31270356 · Lenk, Guy M, Park, Young N, Lemons, Rosemary et al.2020 · 41 citationsScientific reports. 2019;9(1):9609
Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection.31211624 · Wolford, Brooke N, Hornsby, Whitney E, Guo, Dongchuan et al.2020 · 74 citationsCirculation. Genomic and precision medicine. 2019;12(6):e002476
Genomic annotation of disease-associated variants reveals shared functional contexts.30756131 · Kyono, Yasuhiro, Kitzman, Jacob O, Parker, Stephen C J2020 · 10 citationsDiabetologia. 2019;62(5):735-743
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.30061737 · Nielsen, Jonas B, Thorolfsdottir, Rosa B, Fritsche, Lars G et al.2019 · 876 citationsNature genetics. 2018;50(9):1234-1239
Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism.29739035 · Pérez Millán, María I, Vishnopolska, Sebastian A, Daly, Alexandre Z et al.2026 · 26 citationsMolecular genetics & genomic medicine. 2018;6(4):514-525
Global dynamics of stage-specific transcription factor binding during thymocyte development.29618724 · Hosoya, Tomonori, D'Oliveira Albanus, Ricardo, Hensley, John et al.2019 · 17 citationsScientific reports. 2018;8(1):5605
Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development.29290336 · Nielsen, Jonas B, Fritsche, Lars G, Zhou, Wei et al.2018 · 114 citationsAmerican journal of human genetics. 2018;102(1):103-115
Variant Interpretation: Functional Assays to the Rescue.28886340 · Starita, Lea M, Ahituv, Nadav, Dunham, Maitreya J et al.2017 · 387 citationsAmerican journal of human genetics. 2017;101(3):315-325
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