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Human Mutation|November 9, 2022
Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormalityJordan Eboreime, Soo-Kyung Choi, Song-Ro Yoon, et al.
Plos Biology|September 1, 2007
The molecular anatomy of spontaneous germline mutations in human testesJian Qin, Peter Calabrese, Irene Tiemann-Boege, et al.
Plos Genetics|July 14, 2009
The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effectSong-Ro Yoon, Jian Qin, Rivka L Glaser, et al.
Genetics|December 8, 2006
Combining sperm typing and linkage disequilibrium analyses reveals differences in selective pressures or recombination rates across human populationsVanessa J Clark, Susan E Ptak, Irene Tiemann, et al.
Cancer Research|October 6, 2005
Contributions by MutL homologues Mlh3 and Pms2 to DNA mismatch repair and tumor suppression in the mousePeng-Chieh Chen, Sandra Dudley, Wayne Hagen, et al.
Human Molecular Genetics|April 6, 2007
Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brainPeggy F Shelbourne, Christine Keller-McGandy, Wenya Linda Bi, et al.
Molecular and Cellular Biology|January 24, 2006
Differential contributions of mammalian Rad54 paralogs to recombination, DNA damage repair, and meiosisJoanna Wesoly, Sheba Agarwal, Stefan Sigurdsson, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 3, 2004
Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onsetNancy S Wexler, Judith Lorimer, Julie Porter, et al.
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