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Page 1
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.
Truty R, Rojahn S, Ouyang K, Kautzer C, Kennemer M, Pineda-Alvarez D, Johnson B, Stafford A, Basel-Salmon L, Saitta S, Slavotinek A, Chandrasekharappa SC, Suarez CJ, Burnett L, Nussbaum RL, Aradhya S. Truty R, et al. Among authors: kautzer c. Am J Hum Genet. 2023 Apr 6;110(4):551-564. doi: 10.1016/j.ajhg.2023.02.013. Epub 2023 Mar 17. Am J Hum Genet. 2023. PMID: 36933558 Free PMC article.
Scalable detection of technically challenging variants through modified next-generation sequencing.
Rojahn S, Hambuch T, Adrian J, Gafni E, Gileta A, Hatchell H, Johnson B, Kallman B, Karfilis K, Kautzer C, Kennemer M, Kirk L, Kvitek D, Lettes J, Macrae F, Mendez F, Paul J, Pellegrino M, Preciado R, Risinger J, Schultz M, Spurka L, Swamy S, Truty R, Usem N, Velenich A, Aradhya S. Rojahn S, et al. Among authors: kautzer c. Mol Genet Genomic Med. 2022 Dec;10(12):e2072. doi: 10.1002/mgg3.2072. Epub 2022 Oct 17. Mol Genet Genomic Med. 2022. PMID: 36251442 Free PMC article.
Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21.
Patil N, Berno AJ, Hinds DA, Barrett WA, Doshi JM, Hacker CR, Kautzer CR, Lee DH, Marjoribanks C, McDonough DP, Nguyen BT, Norris MC, Sheehan JB, Shen N, Stern D, Stokowski RP, Thomas DJ, Trulson MO, Vyas KR, Frazer KA, Fodor SP, Cox DR. Patil N, et al. Among authors: kautzer cr. Science. 2001 Nov 23;294(5547):1719-23. doi: 10.1126/science.1065573. Science. 2001. PMID: 11721056