Associate Professor of Human Genetics
Associate Professor of Computational Medicine and Bioinformatics
[email protected]
Available to mentor
Jacob Kitzman, PhD
Associate Professor
-
PhDUniversity of Washington, Seattle, 2014
-
MSEMassachusetts Institute of Technology, Cambridge, 2006
-
BSMassachusetts Institute of Technology, Cambridge, 2004
-
Center MemberPrecision Health Initiative
-
Center MemberSamuel and Jean Frankel Cardiovascular Center
-
Young CL, Beichman AC, Mas-Ponte D, Hemker SL, Zhu L, Kitzman JO, Shirts BH, Harris K. 2024 Oct 4;PreprintA maternal germline mutator phenotype in a family affected by heritable colorectal cancer.
DOI:10.1101/2023.12.08.23299304 PMID: 38196581 -
Moldovan JB, Kopera HC, Liu Y, Garcia-Canadas M, Catalina P, Leone PE, Sanchez L, Kitzman JO, Kidd JM, Garcia-Perez JL, Moran JV. Nucleic Acids Res, 2024 Jul 22; 52 (13): 7761 - 7779.Journal ArticleVariable patterns of retrotransposition in different HeLa strains provide mechanistic insights into SINE RNA mobilization processes.
DOI:10.1093/nar/gkae448 PMID: 38850156 -
Moldovan JB, Kopera HC, Liu Y, Garcia-Canadas M, Catalina P, Leone PE, Sanchez L, Kitzman JO, Kidd JM, Garcia-Perez JL, Moran JV. 2024 May 3;PreprintVariable patterns of retrotransposition in different HeLa strains provide mechanistic insights into SINE RNA mobilization processes.
DOI:10.1101/2024.05.03.592410 PMID: 38746229 -
Accogli A, Park YN, Lenk GM, Severino M, Scala M, Denecke J, Hempel M, Lessel D, Kortüm F, Salpietro V, de Marco P, Guerrisi S, Torella A, Nigro V, Srour M, Turro E, Labarque V, Freson K, Piatelli G, Capra V, Kitzman JO, Meisler MH. Genet Med, 2024 May; 26 (5): 101097Journal ArticleBiallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.
DOI:10.1016/j.gim.2024.101097 PMID: 38334070 -
Varshney A, Manickam N, Orchard P, Tovar A, Zhang Z, Feng F, Erdos MR, Narisu N, Ventresca C, Nishino K, Rai V, Stringham HM, Jackson AU, Tamsen T, Gao C, Yang M, Koues OI, Welch JD, Burant CF, Williams LK, Jenkinson C, DeFronzo RA, Norton L, Saramies J, Lakka TA, Laakso M, Tuomilehto J, Mohlke KL, Kitzman JO, Koistinen HA, Liu J, Boehnke M, Collins FS, Scott LJ, Parker SCJ. 2023 Dec 15;PreprintPopulation-scale skeletal muscle single-nucleus multi-omic profiling reveals extensive context specific genetic regulation.
DOI:10.1101/2023.12.15.571696 PMID: 38168419 -
Smith C, Kitzman JO. Genome Biol, 2023 Dec 21; 24 (1): 294Journal ArticleBenchmarking splice variant prediction algorithms using massively parallel splicing assays.
DOI:10.1186/s13059-023-03144-z PMID: 38129864 -
Tovar A, Kyono Y, Nishino K, Bose M, Varshney A, Parker SCJ, Kitzman J. 2023 bioRxiv,PreprintUsing a modular massively parallel reporter assay to discover context-specific regulatory grammars in type 2 diabetes
DOI:10.1101/2023.10.08.561391 -
Smith C, Burugula BB, Dunn I, Aradhya S, Kitzman JO, Yee JL. Kidney Int Rep, 2023 Oct; 8 (10): 2117 - 2125.Journal ArticleHigh-Throughput Splicing Assays Identify Known and Novel WT1 Exon 9 Variants in Nephrotic Syndrome.
DOI:10.1016/j.ekir.2023.07.033 PMID: 37850022
Department News
Adelaide Tovar, Ph.D., was awarded an NIH Maximizing Opportunities for Scientific and Academic Independent Careers (MOSAIC) K99/R00, a specialized career transition program intended for postdocs who are from underrepresented backgrounds and/or have demonstrated a commitment to increasing inclusivity and equity in the scientific workforce.
Department News
Meet Cathy Smith, a PhD candidate in Jacob Kitzman's lab
