Jacob O. Kitzman - Publications, H-index & Citations

Jacob O. Kitzman

University of Michigan Medical School

44H指数

149论文数

1.9W被引数

收录论文 63

发表时间

Saturation mutagenesis enables RAD51D clinical variant interpretation and identifies distinct biochemical functions 饱和诱变有助于RAD51D临床变异的解释并识别不同的生化功能

Nature Communications

IF15.7

2026-10-03

OAAI

Kristie E. Darrah; Shelby L. Hemker; Yashpal Rawal; Noah J. Goff; Phoebe S. Parker; Gayatri S. Ganesan; Caleb M. Stratton; Katherine G. Oppenheimer; Ella Roberts; Elena Glick; Nicole Banks; Arjun K. Kumar; Silvia Casadei; Matthew W. Snyder; Kara J. Milliron; Sofia D. Merajver; Ana M. Dias; Katherine L. Nathanson; Susan M. Domchek; Lea M. Starita; Shaun K. Olsen; Patrick Sung; Jacob O. Kitzman; Kara A. Bernstein

Using a modular massively parallel reporter assay to discover context-dependent regulatory activity in type 2 diabetes-linked noncoding regions 采用模块化大规模平行报告者分析法，发现与2型糖尿病相关的非编码区域中的依赖上下文的调控活性

Human Genetics and Genomics Advances

IF3.6

2026-04-07

OAAI

Adelaide Tovar; Yasuhiro Kyono; Kirsten Nishino; Maya Bose; Arushi Varshney; Stephen C.J. Parker; Jacob O. Kitzman

Lipid Metabolism Transcriptomic Signature of Defective Erythropoiesis in Diamond Blackfan Anemia syndrome

Blood Advances

IF7.1

2026-01-29

OAAI

Kaiwen Deng; Yu Wang; Joseph C. Min; Xiaofang Liu; Hiroki Ueharu; Greggory Myers; Lei Yu; Susan Hammoud; Adham Adam; Rilie Saba; Vaneesha Natogi; Claire Drysdale; Brandon Chen; Jennifer Lai Yee; Jacob Kitzman; Costas A. Lyssiotis; Yuji Mishina; Morgan Jones; Vesa Kaartinen; Yuanfang Guan

Clonal hematopoiesis of indeterminate potential and the risk of cognitive impairment in the Women's Health Initiative Memory Study 克隆性中性粒细胞发育潜能与女性健康倡议记忆研究中的认知障碍风险

ALZHEIMERS & DEMENTIA

IF11.1

2025-09-30

OAAI

Jakubek, Yasminka A.; Smith, Aaron P.; Leng, Xiaoyan I.; Hall, Megan E.; Ezzat, Daniel; Pershad, Yash; Collins, Jason M.; Uddin, Md Mesbah; Fardo, David W.; Natarajan, Pradeep; Bick, Alexander G.; Kitzman, Jacob O.; Honigberg, Michael C.; Hayden, Kathleen M.; Manson, JoAnn E.; Jaiswal, Siddhartha; Whitsel, Eric A.; Reiner, Alexander P.

Clonal Hematopoiesis and Cardiovascular Outcomes in Older Women 克隆性造血与老年女性心血管结局

JACC

IF0

2025-08-27

OAAI

Daniel Ezzat; Md Mesbah Uddin; Liying Xue; Yash Pershad; Shengruo Zhang; Jason M. Collins; Jacob O. Kitzman; Siddhartha Jaiswal; Pinkal Desai; Charles Kooperberg; Alexander G. Bick; Pradeep Natarajan; JoAnn E. Manson; Eric A. Whitsel; Alexander P. Reiner; Michael C. Honigberg

Saturation mapping of MUTYH variant effects using DNA repair reporters MUTYH变异效应的饱和度映射研究，使用DNA修复报告系统

american journal of human genetics

IF0

2025-07-29

OAAI

Shelby L. Hemker; Ashley Marsh; Felicia Hernandez; Elena Glick; Grace Clark; Alyssa Bashir; Krystal Jiang; Jacob O. Kitzman

Correlates and consequences of clonal hematopoiesis expansion rate: a 16-year longitudinal study of 6976 women 克隆性造血扩增率的关联因素与后果：一项对6976名女性的16年纵向研究

Blood

IF23.1

2025-06-13

OAAI

Yash Pershad; Md. Mesbah Uddin; Liying Xue; Jeffrey Haessler; Jason M. Collins; Taralynn M. Mack; Elena Glick; Veronica Glaser; Kun Zhao; Siddhartha Jaiswal; JoAnn E. Manson; Urvashi Pandey; Pinkal Desai; Pradeep Natarajan; Michael C. Honigberg; Charles Kooperberg; Eric A. Whitsel; Jacob O. Kitzman; Alexander G. Bick; Alexander P. Reiner

A maternal germline mutator phenotype in a family affected by heritable colorectal cancer

GENETICS

IF5.1

2024-10-15

OAAI

Young, Candice L.; Beichman, Annabel C.; Mas Ponte, David; Hemker, Shelby L.; Zhu, Luke; Kitzman, Jacob O.; Shirts, Brian H.; Harris, Kelley

Massively Parallel Reporter Assay Reveals Position-, Promoter-, and Strand-Dependent Effects in Islet TSSs Overlapping Type 2 Diabetes GWAS Loci

DIABETES

IF7.5

2024-06-14

PREAI

Bose, Maya L.; Tovar, Adelaide; Varshney, Arushi; Parker, Stephen; Kitzman, Jacob; Kyono, Yasuhiro

Population-Scale Skeletal Muscle Single-Nucleus Multiomic Profiling Reveals Extensive Context-Specific Genetic Regulation

DIABETES

IF7.5

2024-06-14

PREAI

Varshney, Arushi; Manickam, Nandini; Orchard, Peter; Tovar, Adelaide; Zhang, Zhenhao; Feng, Fan; Lakka, Timo A.; Laakso, Markku, Sr.; Tuomilehto, Jaakko; Mohlke, Karen L.; Kitzman, Jacob; Koistinen, Heikki A.; Liu, Jie; Boehnke, Michael; Collins, Francis S.; Scott, Laura; Parker, Stephen C.

Variable patterns of retrotransposition in different HeLa strains provide mechanistic insights into SINE RNA mobilization processes

NUCLEIC ACIDS RESEARCH

IF13.1

2024-06-08

OAAI

Moldovan, John B.; Kopera, Huira C.; Liu, Ying; Garcia-Canadas, Marta; Catalina, Purificacion; Leone, Paola E.; Sanchez, Laura; Kitzman, Jacob O.; Kidd, Jeffrey M.; Garcia-Perez, Jose Luis; Moran, John, V

Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder SLC12A9的双等位基因功能丧失变体导致溶酶体功能障碍和综合征性神经发育障碍

GENETICS IN MEDICINE

IF6.2

2024-05-01

OAAI

Accogli, Andrea; Park, Young N.; Lenk, Guy M.; Severino, Mariasavina; Scala, Marcello; Denecke, Jonas; Hempel, Maja; Lessel, Davor; Kortuem, Fanny; Salpietro, Vincenzo; de Marco, Patrizia; Guerrisi, Sara; Torella, Annalaura; Nigro, Vincenzo; Srour, Myriam; Turro, Ernest; Labarque, Veerle; Freson, Kathleen; Piatelli, Gianluca; Capra, Valeria; Kitzman, Jacob O.; Meisler, Miriam H.

Benchmarking splice variant prediction algorithms using massively parallel splicing assays

GENOME BIOLOGY

IF9.4

2023-12-21

OAAI

Smith, Cathy; Kitzman, Jacob O.

High-Throughput Splicing Assays Identify Known and Novel WT1 Exon 9 Variants in Nephrotic Syndrome

KIDNEY INTERNATIONAL REPORTS

IF5.7

2023-10-01

OAAI

Smith, Cathy; Burugula, Bala Bharathi; Dunn, Ian; Aradhya, Swaroop; Kitzman, Jacob O.; Yee, Jennifer Lai

Disruption of RNA Splicing Is an Important Contributor to Congenital Hypopituitarism and Other Human Genetic Diseases RNA剪接的破坏是先天性垂体功能减退症和其他人类遗传疾病的重要原因

ENDOCRINOLOGY

IF3.3

2023-03-01

OAAI

Camper, Sally A.; Smith, Cathy; Kitzman, Jacob O.

Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome

GENOME BIOLOGY

IF9.4

2022-12-22

OAAI

Scott, Anthony; Hernandez, Felicia; Chamberlin, Adam; Smith, Cathy; Karam, Rachid; Kitzman, Jacob O.

Gene amplification acts as a molecular foothold to facilitate cross-species adaptation and evasion of multiple antiviral pathways

VIRUS EVOLUTION

IF4

2022-11-14

OAAI

Banerjee, Shefali; Smith, Cathy; Geballe, Adam P.; Rothenburg, Stefan; Kitzman, Jacob O.; Brennan, Greg

GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway GCAF(TMEM251) 通过激活mannose-6-phosphate途径调节溶酶体生物合成

NATURE COMMUNICATIONS

IF15.7

2022-09-12

OAAI

Zhang, Weichao; Yang, Xi; Li, Yingxiang; Yu, Linchen; Zhang, Bokai; Zhang, Jianchao; Cho, Woo Jung; Venkatarangan, Varsha; Chen, Liang; Burugula, Bala Bharathi; Bui, Sarah; Wang, Yanzhuang; Duan, Cunming; Kitzman, Jacob O.; Li, Ming

Longitudinal profiling of clonal hematopoiesis provides insight into clonal dynamics

IMMUNITY & AGEING

IF5.6

2022-05-24

OAAI

Uddin, Md Mesbah; Zhou, Ying; Bick, Alexander G.; Burugula, Bala Bharathi; Jaiswal, Siddhartha; Desai, Pinkal; Honigberg, Michael C.; Love, Shelly-Ann; Barac, Ana; Hayden, Kathleen M.; Manson, JoAnn E.; Whitsel, Eric A.; Kooperberg, Charles; Natarajan, Pradeep; Reiner, Alexander P.; Kitzman, Jacob O.

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2021-08-01

OAAI

Gergics, Peter; Smith, Cathy; Bando, Hironori; Jorge, Alexander A. L.; Rockstroh-Lippold, Denise; Vishnopolska, Sebastian A.; Castinetti, Frederic; Maksutova, Mariam; Silveira Carvalho, Luciani Renata; Hoppmann, Julia; Mayer, Julian Martinez; Albarel, Frederique; Braslavsky, Debora; Keselman, Ana; Bergada, Ignacio; Marti, Marcelo A.; Saveanu, Alexandru; Barlier, Anne; Abou Jamra, Rami; Guo, Michael H.; Dauber, Andrew; Nakaguma, Marilena; Mendonca, Berenice B.; Jayakody, Sajini N.; Ozel, A. Bilge; Fang, Qing; Ma, Qianyi; Li, Jun Z.; Brue, Thierry; Millan, Maria Ines Perez; Arnhold, Ivo J. P.; Pfaeffle, Roland; Kitzman, Jacob O.; Camper, Sally A.

研究方向