Publications
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet. 2004 ;74(6):1216-24.
. Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics. Am J Hum Genet. 2014 ;95(4):345-59.
. Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet. 2014 ;95(2):173-82.
. Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group. J Natl Cancer Inst. 2021 ;113(7):875-883.
. Hidden biases in germline structural variant detection. Genome Biol. 2021 ;22(1):347.
. Population sequencing data reveal a compendium of mutational processes in the human germ line. Science. 2021 ;373(6558):1030-1035.
. Examining the Effects of Hibernation on Germline Mutation Rates in Grizzly Bears. Genome Biol Evol. 2022 ;14(10).
. Germline genetic variants and pediatric rhabdomyosarcoma outcomes: a report from the Children's Oncology Group. J Natl Cancer Inst. 2023 ;115(6):733-741.
. . Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma: A Report From the Children's Oncology Group. JAMA Netw Open. 2024 ;7(3):e244170.
. Germline structural variation globally impacts the cancer transcriptome including disease-relevant genes. Cell Rep Med. 2024 ;5(3):101446.
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