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

Eboreime J, Choi SK, Yoon SR, Arnheim N, Calabrese P.

PLoS One. 2016 Jun 24;11(6):e0158340. doi: 10.1371/journal.pone.0158340. eCollection 2016.


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

Arnheim N, Calabrese P.

Annu Rev Genomics Hum Genet. 2016 Aug 31;17:219-43. doi: 10.1146/annurev-genom-083115-022656. Epub 2016 Apr 8. Review.


New evidence for positive selection helps explain the paternal age effect observed in achondroplasia.

Shinde DN, Elmer DP, Calabrese P, Boulanger J, Arnheim N, Tiemann-Boege I.

Hum Mol Genet. 2013 Oct 15;22(20):4117-26. doi: 10.1093/hmg/ddt260. Epub 2013 Jun 4.


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.

Am J Hum Genet. 2013 Jun 6;92(6):917-26. doi: 10.1016/j.ajhg.2013.05.001. Epub 2013 May 30.


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.

PLoS Genet. 2012;8(2):e1002420. doi: 10.1371/journal.pgen.1002420. Epub 2012 Feb 16.


Detection of meiotic DNA breaks in mouse testicular germ cells.

Qin J, Subramanian J, Arnheim N.

Methods Mol Biol. 2009;557:165-81. doi: 10.1007/978-1-59745-527-5_11. Review.


Product length, dye choice, and detection chemistry in the bead-emulsion amplification of millions of single DNA molecules in parallel.

Tiemann-Boege I, Curtis C, Shinde DN, Goodman DB, Tavaré S, Arnheim N.

Anal Chem. 2009 Jul 15;81(14):5770-6. doi: 10.1021/ac900633y.


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.

PLoS Genet. 2009 Jul;5(7):e1000558. doi: 10.1371/journal.pgen.1000558. Epub 2009 Jul 10.


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

Arnheim N, Calabrese P.

Nat Rev Genet. 2009 Jul;10(7):478-88. doi: 10.1038/nrg2529. Review.


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.

Proc Natl Acad Sci U S A. 2008 Jul 22;105(29):10143-8. doi: 10.1073/pnas.0801267105. Epub 2008 Jul 16.


Single-sperm typing.

Lien S, Szyda J, Leeflang EP, Hubert R, Zhang L, Schmitt K, Arnheim N.

Curr Protoc Hum Genet. 2002 May;Chapter 1:Unit 1.6. doi: 10.1002/0471142905.hg0106s32.


Mammalian meiotic recombination hot spots.

Arnheim N, Calabrese P, Tiemann-Boege I.

Annu Rev Genet. 2007;41:369-99. Review.


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.

PLoS Biol. 2007 Sep;5(9):e224.


Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain.

Shelbourne PF, Keller-McGandy C, Bi WL, Yoon SR, Dubeau L, Veitch NJ, Vonsattel JP, Wexler NS; US-Venezuela Collaborative Research Group, Arnheim N, Augood SJ.

Hum Mol Genet. 2007 May 15;16(10):1133-42. Epub 2007 Apr 4.


Combining sperm typing and linkage disequilibrium analyses reveals differences in selective pressures or recombination rates across human populations.

Clark VJ, Ptak SE, Tiemann I, Qian Y, Coop G, Stone AC, Przeworski M, Arnheim N, Di Rienzo A.

Genetics. 2007 Feb;175(2):795-804. Epub 2006 Dec 6.


Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm.

Wyrobek AJ, Eskenazi B, Young S, Arnheim N, Tiemann-Boege I, Jabs EW, Glaser RL, Pearson FS, Evenson D.

Proc Natl Acad Sci U S A. 2006 Jun 20;103(25):9601-6. Epub 2006 Jun 9.


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.

PLoS Genet. 2006 May;2(5):e70. Epub 2006 May 5.


Differential contributions of mammalian Rad54 paralogs to recombination, DNA damage repair, and meiosis.

Wesoly J, Agarwal S, Sigurdsson S, Bussen W, Van Komen S, Qin J, van Steeg H, van Benthem J, Wassenaar E, Baarends WM, Ghazvini M, Tafel AA, Heath H, Galjart N, Essers J, Grootegoed JA, Arnheim N, Bezzubova O, Buerstedde JM, Sung P, Kanaar R.

Mol Cell Biol. 2006 Feb;26(3):976-89.


Contributions by MutL homologues Mlh3 and Pms2 to DNA mismatch repair and tumor suppression in the mouse.

Chen PC, Dudley S, Hagen W, Dizon D, Paxton L, Reichow D, Yoon SR, Yang K, Arnheim N, Liskay RM, Lipkin SM.

Cancer Res. 2005 Oct 1;65(19):8662-70.


Genetic instability induced by overexpression of DNA ligase I in budding yeast.

Subramanian J, Vijayakumar S, Tomkinson AE, Arnheim N.

Genetics. 2005 Oct;171(2):427-41. Epub 2005 Jun 18.


Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset.

Wexler NS, Lorimer J, Porter J, Gomez F, Moskowitz C, Shackell E, Marder K, Penchaszadeh G, Roberts SA, Gayán J, Brocklebank D, Cherny SS, Cardon LR, Gray J, Dlouhy SR, Wiktorski S, Hodes ME, Conneally PM, Penney JB, Gusella J, Cha JH, Irizarry M, Rosas D, Hersch S, Hollingsworth Z, MacDonald M, Young AB, Andresen JM, Housman DE, De Young MM, Bonilla E, Stillings T, Negrette A, Snodgrass SR, Martinez-Jaurrieta MD, Ramos-Arroyo MA, Bickham J, Ramos JS, Marshall F, Shoulson I, Rey GJ, Feigin A, Arnheim N, Acevedo-Cruz A, Acosta L, Alvir J, Fischbeck K, Thompson LM, Young A, Dure L, O'Brien CJ, Paulsen J, Brickman A, Krch D, Peery S, Hogarth P, Higgins DS Jr, Landwehrmeyer B; U.S.-Venezuela Collaborative Research Project.

Proc Natl Acad Sci U S A. 2004 Mar 9;101(10):3498-503. Epub 2004 Mar 1.


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

Yoon SR, Dubeau L, de Young M, Wexler NS, Arnheim N.

Proc Natl Acad Sci U S A. 2003 Jul 22;100(15):8834-8. Epub 2003 Jul 11.


The mutation process of microsatellites during the polymerase chain reaction.

Lai Y, Shinde D, Arnheim N, Sun F.

J Comput Biol. 2003;10(2):143-55.


Hot and cold spots of recombination in the human genome: the reason we should find them and how this can be achieved.

Arnheim N, Calabrese P, Nordborg M.

Am J Hum Genet. 2003 Jul;73(1):5-16. Epub 2003 May 22. Review. No abstract available.


Candidate DNA replication initiation regions at human trinucleotide repeat disease loci.

Nenguke T, Aladjem MI, Gusella JF, Wexler NS, Arnheim N; Venezuela HD Project.

Hum Mol Genet. 2003 May 1;12(9):1021-8. Erratum in: Hum Mol Genet. 2003 Jun 15;12(12):1461.


The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect.

Tiemann-Boege I, Navidi W, Grewal R, Cohn D, Eskenazi B, Wyrobek AJ, Arnheim N.

Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):14952-7. Epub 2002 Oct 23.


Evidence for the lack of mismatch-repair directed antirecombination during mouse meiosis.

Qin J, Baker S, Te Riele H, Liskay RM, Arnheim N.

J Hered. 2002 May-Jun;93(3):201-5.


Hydroxylated quantum dots as luminescent probes for in situ hybridization.

Pathak S, Choi SK, Arnheim N, Thompson ME.

J Am Chem Soc. 2001 May 2;123(17):4103-4. No abstract available.


Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hot-spot is not elevated above the genome average rate.

Han LL, Keller MP, Navidi W, Chance PF, Arnheim N.

Hum Mol Genet. 2000 Jul 22;9(12):1881-9.


Nup50, a nucleoplasmically oriented nucleoporin with a role in nuclear protein export.

Guan T, Kehlenbach RH, Schirmer EC, Kehlenbach A, Fan F, Clurman BE, Arnheim N, Gerace L.

Mol Cell Biol. 2000 Aug;20(15):5619-30.


The mutation properties of spinal and bulbar muscular atrophy disease alleles.

Grewal RP, Leeflang EP, Zhang L, Arnheim N.

Neurogenetics. 1998 Aug;1(4):249-52.


Meiotic segregation analysis of RB1 alleles in retinoblastoma pedigrees by use of single-sperm typing.

Girardet A, McPeek MS, Leeflang EP, Munier F, Arnheim N, Claustres M, Pellestor F.

Am J Hum Genet. 2000 Jan;66(1):167-75.


Polymorphisms in the human DNA repair gene XPF.

Fan F, Liu C, Tavaré S, Arnheim N.

Mutat Res. 1999 Aug;406(2-4):115-20.


French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis.

Grewal RP, Cancel G, Leeflang EP, Dürr A, McPeek MS, Draghinas D, Yao X, Stevanin G, Alnot MO, Brice A, Arnheim N.

Hum Mol Genet. 1999 Sep;8(9):1779-84.


Different mutator phenotypes in Mlh1- versus Pms2-deficient mice.

Yao X, Buermeyer AB, Narayanan L, Tran D, Baker SM, Prolla TA, Glazer PM, Liskay RM, Arnheim N.

Proc Natl Acad Sci U S A. 1999 Jun 8;96(12):6850-5.


Direct estimation of the recombination frequency between the RB1 gene and two closely linked microsatellites using sperm typing.

Girardet A, Lien S, Leeflang EP, Beaufrère L, Tuffery S, Munier F, Arnheim N, Claustres M, Pellestor F.

Eur J Hum Genet. 1999 Feb-Mar;7(2):239-42.


High-resolution gametic map of the sheep callipyge region: linkage heterogeneity among rams detected by sperm typing.

Lien S, Cockett NE, Klungland H, Arnheim N, Georges M, Gomez-Raya L.

Anim Genet. 1999 Feb;30(1):42-6.


Triplet repeats form secondary structures that escape DNA repair in yeast.

Moore H, Greenwell PW, Liu CP, Arnheim N, Petes TD.

Proc Natl Acad Sci U S A. 1999 Feb 16;96(4):1504-9.


Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism.

Leeflang EP, Tavaré S, Marjoram P, Neal CO, Srinidhi J, MacFarlane H, MacDonald ME, Gusella JF, de Young M, Wexler NS, Arnheim N.

Hum Mol Genet. 1999 Feb;8(2):173-83. Erratum in: Hum Mol Genet 1999 Apr;8(4):717.


Patchy fur, a mouse coat mutation associated with X-Y nondisjunction, maps to the pseudoautosomal boundary region.

Korobova O, Lane PW, Perry J, Palmer S, Ashworth A, Davisson MT, Arnheim N.

Genomics. 1998 Dec 15;54(3):556-9.


Polyglutamine-expanded human huntingtin transgenes induce degeneration of Drosophila photoreceptor neurons.

Jackson GR, Salecker I, Dong X, Yao X, Arnheim N, Faber PW, MacDonald ME, Zipursky SL.

Neuron. 1998 Sep;21(3):633-42.


Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair.

Prolla TA, Baker SM, Harris AC, Tsao JL, Yao X, Bronner CE, Zheng B, Gordon M, Reneker J, Arnheim N, Shibata D, Bradley A, Liskay RM.

Nat Genet. 1998 Mar;18(3):276-9.


Gene hunting without sequencing genomic clones: finding exon boundaries in cDNAs.

Xu G, Sze SH, Liu CP, Pevzner PA, Arnheim N.

Genomics. 1998 Jan 15;47(2):171-9.


The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing.

Kunst CB, Leeflang EP, Iber JC, Arnheim N, Warren ST.

J Med Genet. 1997 Aug;34(8):627-31.


DNA mismatch repair in mammals: role in disease and meiosis.

Arnheim N, Shibata D.

Curr Opin Genet Dev. 1997 Jun;7(3):364-70. Review.


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