Arnheim N - Search Results

1

The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect.

Yoon SR, Qin J, Glaser RL, Jabs EW, Wexler NS, Sokol R, Arnheim N, Calabrese P. Yoon SR, et al. Among authors: arnheim n. PLoS Genet. 2009 Jul;5(7):e1000558. doi: 10.1371/journal.pgen.1000558. Epub 2009 Jul 10. PLoS Genet. 2009. PMID: 19593369 Free PMC article.

2

The molecular anatomy of spontaneous germline mutations in human testes.

Qin J, Calabrese P, Tiemann-Boege I, Shinde DN, Yoon SR, Gelfand D, Bauer K, Arnheim N. Qin J, et al. Among authors: arnheim n. PLoS Biol. 2007 Sep;5(9):e224. doi: 10.1371/journal.pbio.0050224. PLoS Biol. 2007. PMID: 17760502 Free PMC article.

3

A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations.

Choi SK, Yoon SR, Calabrese P, Arnheim N. Choi SK, et al. Among authors: arnheim n. Proc Natl Acad Sci U S A. 2008 Jul 22;105(29):10143-8. doi: 10.1073/pnas.0801267105. Epub 2008 Jul 16. Proc Natl Acad Sci U S A. 2008. PMID: 18632557 Free PMC article.

4

Understanding what determines the frequency and pattern of human germline mutations.

Arnheim N, Calabrese P. Arnheim N, et al. Nat Rev Genet. 2009 Jul;10(7):478-88. doi: 10.1038/nrg2529. Nat Rev Genet. 2009. PMID: 19488047 Free PMC article. Review.

5

Positive selection for new disease mutations in the human germline: evidence from the heritable cancer syndrome multiple endocrine neoplasia type 2B.

Choi SK, Yoon SR, Calabrese P, Arnheim N. Choi SK, et al. Among authors: arnheim n. PLoS Genet. 2012;8(2):e1002420. doi: 10.1371/journal.pgen.1002420. Epub 2012 Feb 16. PLoS Genet. 2012. PMID: 22359510 Free PMC article.

6

Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection.

Yoon SR, Choi SK, Eboreime J, Gelb BD, Calabrese P, Arnheim N. Yoon SR, et al. Among authors: arnheim n. Am J Hum Genet. 2013 Jun 6;92(6):917-26. doi: 10.1016/j.ajhg.2013.05.001. Epub 2013 May 30. Am J Hum Genet. 2013. PMID: 23726368 Free PMC article.

7

Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers.

Arnheim N, Calabrese P. Arnheim N, et al. Annu Rev Genomics Hum Genet. 2016 Aug 31;17:219-43. doi: 10.1146/annurev-genom-083115-022656. Epub 2016 Apr 8. Annu Rev Genomics Hum Genet. 2016. PMID: 27070266 Free PMC article. Review.

8

Estimating Exceptionally Rare Germline and Somatic Mutation Frequencies via Next Generation Sequencing.

Eboreime J, Choi SK, Yoon SR, Arnheim N, Calabrese P. Eboreime J, et al. Among authors: arnheim n. PLoS One. 2016 Jun 24;11(6):e0158340. doi: 10.1371/journal.pone.0158340. eCollection 2016. PLoS One. 2016. PMID: 27341568 Free PMC article.

9

Huntington disease expansion mutations in humans can occur before meiosis is completed.

Yoon SR, Dubeau L, de Young M, Wexler NS, Arnheim N. Yoon SR, et al. Among authors: arnheim n. Proc Natl Acad Sci U S A. 2003 Jul 22;100(15):8834-8. doi: 10.1073/pnas.1331390100. Epub 2003 Jul 11. Proc Natl Acad Sci U S A. 2003. PMID: 12857955 Free PMC article.

10

High-resolution recombination patterns in a region of human chromosome 21 measured by sperm typing.

Tiemann-Boege I, Calabrese P, Cochran DM, Sokol R, Arnheim N. Tiemann-Boege I, et al. Among authors: arnheim n. PLoS Genet. 2006 May;2(5):e70. doi: 10.1371/journal.pgen.0020070. Epub 2006 May 5. PLoS Genet. 2006. PMID: 16680198 Free PMC article.

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