Jacob O Kitzman
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Explore the profile of Jacob O Kitzman including associated specialties, affiliations and a list of published articles.
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Recent Articles
1.
Pershad Y, Uddin M, Xue L, Haessler J, Collins J, Mack T, et al.
medRxiv
. 2025 Jan;
PMID: 39867366
Clonal hematopoiesis of indeterminate potential (CHIP) is associated with increased mortality and malignancy risk, yet the determinants of clonal expansion remain poorly understood. We performed sequencing at >4,000x depth of...
2.
Nishino K, Kitzman J, Parker S, Tovar A
bioRxiv
. 2024 Dec;
PMID: 39677760
Type 2 diabetes (T2D) is a common metabolic disorder characterized by dysregulation of glucose metabolism. Genome-wide association studies have defined hundreds of signals associated with T2D and related metabolic traits,...
3.
Young C, Beichman A, Mas-Ponte D, Hemker S, Zhu L, Kitzman J, et al.
Genetics
. 2024 Oct;
PMID: 39403956
Variation in DNA repair genes can increase cancer risk by elevating the rate of oncogenic mutation. Defects in one such gene, MUTYH, are known to elevate the incidence of colorectal...
4.
Moldovan J, Kopera H, Liu Y, Garcia-Canadas M, Catalina P, Leone P, et al.
Nucleic Acids Res
. 2024 Jun;
52(13):7761-7779.
PMID: 38850156
Alu elements are non-autonomous Short INterspersed Elements (SINEs) derived from the 7SL RNA gene that are present at over one million copies in human genomic DNA. Alu mobilizes by a...
5.
Moldovan J, Kopera H, Liu Y, Garcia-Canadas M, Catalina P, Leone P, et al.
bioRxiv
. 2024 May;
PMID: 38746229
elements are non-autonomous Short INterspersed Elements (SINEs) derived from the gene that are present at over one million copies in human genomic DNA. mobilizes by a mechanism known as retrotransposition,...
6.
Accogli A, Park Y, Lenk G, Severino M, Scala M, Denecke J, et al.
Genet Med
. 2024 Feb;
26(5):101097.
PMID: 38334070
Purpose: Pathogenic variants of FIG4 generate enlarged lysosomes and neurological and developmental disorders. To identify additional genes regulating lysosomal volume, we carried out a genome-wide activation screen to detect suppression...
7.
Young C, Beichman A, Mas-Ponte D, Hemker S, Zhu L, Kitzman J, et al.
medRxiv
. 2024 Jan;
PMID: 38196581
Variation in DNA repair genes can increase cancer risk by elevating the rate of oncogenic mutation. Defects in one such gene, , are known to elevate the incidence of colorectal...
8.
Varshney A, Manickam N, Orchard P, Tovar A, Ventresca C, Zhang Z, et al.
bioRxiv
. 2024 Jan;
PMID: 38168419
Skeletal muscle, the largest human organ by weight, is relevant in several polygenic metabolic traits and diseases including type 2 diabetes (T2D). Identifying genetic mechanisms underlying these traits requires pinpointing...
9.
Smith C, Kitzman J
Genome Biol
. 2023 Dec;
24(1):294.
PMID: 38129864
Background: Variants that disrupt mRNA splicing account for a sizable fraction of the pathogenic burden in many genetic disorders, but identifying splice-disruptive variants (SDVs) beyond the essential splice site dinucleotides...
10.
Tovar A, Kyono Y, Nishino K, Bose M, Varshney A, Parker S, et al.
bioRxiv
. 2023 Oct;
PMID: 37873175
Recent genome-wide association studies have established that most complex disease-associated loci are found in noncoding regions where defining their function is nontrivial. In this study, we leverage a modular massively...