Publications by authors named "Jacob Kitzman"

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Clonal Hematopoiesis and Cardiovascular Outcomes in Older Women.
Daniel Ezzat, Md Mesbah Uddin, Liying Xue, Yash Pershad, Shengruo Zhang, Jacob O Kitzman

J Am Coll Cardiol· October 2025

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Clonal hematopoiesis of indeterminate potential and the risk of cognitive impairment in the Women's Health Initiative Memory Study.
Yasminka A Jakubek, Aaron P Smith, Xiaoyan I Leng, Megan E Hall, Daniel Ezzat, Jacob O Kitzman

Alzheimers Dement· October 2025

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Massively parallel reporter assay reveals promoter-, position-, and strand-specific effects in transcription start sites.
Maya Bose, Adelaide Tovar, Yasuhiro Kyono, Arushi Varshney, Jacob O Kitzman

bioRxiv· October 2025

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Using a modular massively parallel reporter assay to discover context-dependent regulatory activity in type 2 diabetes-linked noncoding regions.
Adelaide Tovar, Yasuhiro Kyono, Kirsten Nishino, Maya Bose, Arushi Varshney, Jacob O Kitzman

bioRxiv· September 2025

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Saturation mapping of MUTYH variant effects using DNA repair reporters.
Shelby L Hemker, Ashley Marsh, Felicia Hernandez, Elena Glick, Grace Clark, Jacob O Kitzman

Am J Hum Genet· September 2025

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Correlates and consequences of clonal hematopoiesis expansion rate: a 16-year longitudinal study of 6976 women.
Yash Pershad, Md Mesbah Uddin, Liying Xue, Jeffrey Haessler, Jason M Collins, Jacob O Kitzman

Blood· August 2025

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Role of PROP1 in Postnatal Pituitary Gland Maturation.
Amanda Helen Winningham, Eve Camper Rhoads, Michelle Lynn Brinkmeier, Sebastian Alexis Vishnopolska, Jacob Otto Kitzman

Endocrinology· July 2025

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A lipid metabolism defect is an underlying contributor to Diamond Blackfan anemia syndrome.
Kaiwen Deng, Yu Wang, Joseph C Min, Xiaofang Liu, Greggory Myers, Jacob Kitzman

bioRxiv· May 2025

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Protein family FAM241 in human and mouse.
Quinlan Doctrove, Young Park, Daniel G Calame, Jacob Kitzman, Guy M Lenk

Mamm Genome· March 2025

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Saturation mapping of variant effects using DNA repair reporters.
Shelby L Hemker, Ashley Marsh, Felicia Hernandez, Elena Glick, Grace Clark, Jacob O Kitzman

bioRxiv· March 2025

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Functional dissection of metabolic trait-associated gene regulation in steady state and stimulated human skeletal muscle cells.
Kirsten Nishino, Jacob O Kitzman, Stephen C J Parker, Adelaide Tovar

bioRxiv· January 2025

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Correlates and Consequences of Clonal Hematopoiesis Expansion Rate: A 15-Year Longitudinal Study of 6,986 Women.
Yash Pershad, Md Mesbah Uddin, Liying Xue, Jeffrey Haessler, Jason M Collins, Jacob O Kitzman

medRxiv· January 2025

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Population-scale skeletal muscle single-nucleus multi-omic profiling reveals extensive context specific genetic regulation.
Arushi Varshney, Nandini Manickam, Peter Orchard, Adelaide Tovar, Christa Ventresca, Jacob O Kitzman

bioRxiv· December 2024

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A maternal germline mutator phenotype in a family affected by heritable colorectal cancer.
Candice L Young, Annabel C Beichman, David Mas-Ponte, Shelby L Hemker, Luke Zhu, Jacob O Kitzman

medRxiv· October 2024

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A maternal germline mutator phenotype in a family affected by heritable colorectal cancer.
Candice L Young, Annabel C Beichman, David Mas-Ponte, Shelby L Hemker, Luke Zhu, Jacob O Kitzman

Genetics· October 2024

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Variable patterns of retrotransposition in different HeLa strains provide mechanistic insights into SINE RNA mobilization processes.
John B Moldovan, Huira C Kopera, Ying Liu, Marta Garcia-Canadas, Purificacion Catalina, Jacob O Kitzman

Nucleic Acids Res· July 2024

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Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.
Andrea Accogli, Young N Park, Guy M Lenk, Mariasavina Severino, Marcello Scala, Jacob O Kitzman

Genet Med· May 2024

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Variable patterns of retrotransposition in different HeLa strains provide mechanistic insights into SINE RNA mobilization processes.
John B Moldovan, Huira C Kopera, Ying Liu, Marta Garcia-Canadas, Purificacion Catalina, Jacob O Kitzman

bioRxiv· May 2024

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Benchmarking splice variant prediction algorithms using massively parallel splicing assays.
Cathy Smith, Jacob O Kitzman

Genome Biol· December 2023

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High-Throughput Splicing Assays Identify Known and Novel Exon 9 Variants in Nephrotic Syndrome.
Cathy Smith, Bala Bharathi Burugula, Ian Dunn, Swaroop Aradhya, Jacob O Kitzman

Kidney Int Rep· October 2023

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Benchmarking splice variant prediction algorithms using massively parallel splicing assays.
Cathy Smith, Jacob O Kitzman

bioRxiv· May 2023

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Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis.
Joshua S Weinstock, Jayakrishnan Gopakumar, Bala Bharathi Burugula, Md Mesbah Uddin, Nikolaus Jahn, Jacob O Kitzman

Nature· April 2023

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Disruption of RNA Splicing Is an Important Contributor to Congenital Hypopituitarism and Other Human Genetic Diseases.
Sally A Camper, Cathy Smith, Jacob O Kitzman

Endocrinology· March 2023

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Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.
Anthony Scott, Felicia Hernandez, Adam Chamberlin, Cathy Smith, Rachid Karam, Jacob O Kitzman

Genome Biol· December 2022

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Gene amplification acts as a molecular foothold to facilitate cross-species adaptation and evasion of multiple antiviral pathways.
Shefali Banerjee, Cathy Smith, Adam P Geballe, Stefan Rothenburg, Jacob O Kitzman

Virus Evol· November 2022

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