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Items: 50

1.

Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms.

Hinds DA, Barnholt KE, Mesa RA, Kiefer AK, Do CB, Eriksson N, Mountain JL, Francke U, Tung JY, Nguyen HM, Zhang H, Gojenola L, Zehnder JL, Gotlib J.

Blood. 2016 Aug 25;128(8):1121-8. doi: 10.1182/blood-2015-06-652941. Epub 2016 Jun 30.

2.

The impact of direct-to-consumer personal genomic testing on perceived risk of breast, prostate, colorectal, and lung cancer: findings from the PGen study.

Carere DA, VanderWeele T, Moreno TA, Mountain JL, Roberts JS, Kraft P, Green RC; PGen Study Group.

BMC Med Genomics. 2015 Oct 15;8:63. doi: 10.1186/s12920-015-0140-y.

3.

Explaining, not just predicting, drives interest in personal genomics.

Meisel SF, Carere DA, Wardle J, Kalia SS, Moreno TA, Mountain JL, Roberts JS, Green RC; PGen Study Group.

Genome Med. 2015 Aug 1;7(1):74. doi: 10.1186/s13073-015-0188-5. eCollection 2015.

4.

How Well Do Customers of Direct-to-Consumer Personal Genomic Testing Services Comprehend Genetic Test Results? Findings from the Impact of Personal Genomics Study.

Ostergren JE, Gornick MC, Carere DA, Kalia SS, Uhlmann WR, Ruffin MT, Mountain JL, Green RC, Roberts JS; PGen Study Group.

Public Health Genomics. 2015;18(4):216-24. doi: 10.1159/000431250. Epub 2015 Jun 16.

5.

The genetic ancestry of African Americans, Latinos, and European Americans across the United States.

Bryc K, Durand EY, Macpherson JM, Reich D, Mountain JL.

Am J Hum Genet. 2015 Jan 8;96(1):37-53. doi: 10.1016/j.ajhg.2014.11.010. Epub 2014 Dec 18.

6.

Design, methods, and participant characteristics of the Impact of Personal Genomics (PGen) Study, a prospective cohort study of direct-to-consumer personal genomic testing customers.

Carere DA, Couper MP, Crawford SD, Kalia SS, Duggan JR, Moreno TA, Mountain JL, Roberts JS, Green RC; PGen Study Group.

Genome Med. 2014 Dec 3;6(12):96. doi: 10.1186/s13073-014-0096-0. eCollection 2014.

7.

Replicability and robustness of genome-wide-association studies for behavioral traits.

Rietveld CA, Conley D, Eriksson N, Esko T, Medland SE, Vinkhuyzen AA, Yang J, Boardman JD, Chabris CF, Dawes CT, Domingue BW, Hinds DA, Johannesson M, Kiefer AK, Laibson D, Magnusson PK, Mountain JL, Oskarsson S, Rostapshova O, Teumer A, Tung JY, Visscher PM, Benjamin DJ, Cesarini D, Koellinger PD; Social Science Genetics Association Consortium.

Psychol Sci. 2014 Nov;25(11):1975-86. doi: 10.1177/0956797614545132. Epub 2014 Oct 6.

8.

A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.

Hinds DA, McMahon G, Kiefer AK, Do CB, Eriksson N, Evans DM, St Pourcain B, Ring SM, Mountain JL, Francke U, Davey-Smith G, Timpson NJ, Tung JY.

Nat Genet. 2013 Aug;45(8):907-11. doi: 10.1038/ng.2686. Epub 2013 Jun 30.

9.

Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing.

Francke U, Dijamco C, Kiefer AK, Eriksson N, Moiseff B, Tung JY, Mountain JL.

PeerJ. 2013 Feb 12;1:e8. doi: 10.7717/peerj.8. Print 2013.

10.

Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia.

Kiefer AK, Tung JY, Do CB, Hinds DA, Mountain JL, Francke U, Eriksson N.

PLoS Genet. 2013;9(2):e1003299. doi: 10.1371/journal.pgen.1003299. Epub 2013 Feb 28.

11.

Genetic variants associated with breast size also influence breast cancer risk.

Eriksson N, Benton GM, Do CB, Kiefer AK, Mountain JL, Hinds DA, Francke U, Tung JY.

BMC Med Genet. 2012 Jun 30;13:53. doi: 10.1186/1471-2350-13-53.

12.

Cryptic distant relatives are common in both isolated and cosmopolitan genetic samples.

Henn BM, Hon L, Macpherson JM, Eriksson N, Saxonov S, Pe'er I, Mountain JL.

PLoS One. 2012;7(4):e34267. doi: 10.1371/journal.pone.0034267. Epub 2012 Apr 3.

13.

Novel associations for hypothyroidism include known autoimmune risk loci.

Eriksson N, Tung JY, Kiefer AK, Hinds DA, Francke U, Mountain JL, Do CB.

PLoS One. 2012;7(4):e34442. doi: 10.1371/journal.pone.0034442. Epub 2012 Apr 6.

14.

Navigating a research partnership between academia and industry to assess the impact of personalized genetic testing.

Lehmann LS, Kaufman DJ, Sharp RR, Moreno TA, Mountain JL, Roberts JS, Green RC.

Genet Med. 2012 Feb;14(2):268-73. doi: 10.1038/gim.2011.59. Epub 2012 Jan 12.

15.

Efficient replication of over 180 genetic associations with self-reported medical data.

Tung JY, Do CB, Hinds DA, Kiefer AK, Macpherson JM, Chowdry AB, Francke U, Naughton BT, Mountain JL, Wojcicki A, Eriksson N.

PLoS One. 2011;6(8):e23473. doi: 10.1371/journal.pone.0023473. Epub 2011 Aug 17.

16.

Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.

Do CB, Tung JY, Dorfman E, Kiefer AK, Drabant EM, Francke U, Mountain JL, Goldman SM, Tanner CM, Langston JW, Wojcicki A, Eriksson N.

PLoS Genet. 2011 Jun;7(6):e1002141. doi: 10.1371/journal.pgen.1002141. Epub 2011 Jun 23.

17.

Rapid, global demographic expansions after the origins of agriculture.

Gignoux CR, Henn BM, Mountain JL.

Proc Natl Acad Sci U S A. 2011 Apr 12;108(15):6044-9. doi: 10.1073/pnas.0914274108. Epub 2011 Mar 28.

18.

Hunter-gatherer genomic diversity suggests a southern African origin for modern humans.

Henn BM, Gignoux CR, Jobin M, Granka JM, Macpherson JM, Kidd JM, Rodríguez-Botigué L, Ramachandran S, Hon L, Brisbin A, Lin AA, Underhill PA, Comas D, Kidd KK, Norman PJ, Parham P, Bustamante CD, Mountain JL, Feldman MW.

Proc Natl Acad Sci U S A. 2011 Mar 29;108(13):5154-62. doi: 10.1073/pnas.1017511108. Epub 2011 Mar 7.

19.

Haplotype data for 12 Y-chromosome STR loci of Sri Lankans.

Illeperuma RJ, Markalanda D, Mountain JL, Ratnasooriya WD, Fernandopulle ND, Bamshad MJ.

Forensic Sci Int Genet. 2010 Jul;4(4):e119-20. doi: 10.1016/j.fsigen.2009.10.003. Epub 2009 Nov 8.

PMID:
20457052
20.

A pragmatic consideration of ethical issues relating to personal genomics.

Hsu AR, Mountain JL, Wojcicki A, Avey L.

Am J Bioeth. 2009;9(6-7):1-2. doi: 10.1080/15265160902966795. No abstract available.

PMID:
19998098
21.

Characterizing the time dependency of human mitochondrial DNA mutation rate estimates.

Henn BM, Gignoux CR, Feldman MW, Mountain JL.

Mol Biol Evol. 2009 Jan;26(1):217-30. doi: 10.1093/molbev/msn244. Epub 2008 Nov 4. Erratum in: Mol Biol Evol. 2009 Mar;26(3):713.

PMID:
18984905
22.

REJECTOR: software for population history inference from genetic data via a rejection algorithm.

Jobin MJ, Mountain JL.

Bioinformatics. 2008 Dec 15;24(24):2936-7. doi: 10.1093/bioinformatics/btn540. Epub 2008 Oct 20.

23.

Y-chromosomal evidence of a pastoralist migration through Tanzania to southern Africa.

Henn BM, Gignoux C, Lin AA, Oefner PJ, Shen P, Scozzari R, Cruciani F, Tishkoff SA, Mountain JL, Underhill PA.

Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10693-8. doi: 10.1073/pnas.0801184105. Epub 2008 Aug 4.

24.

Diet and the evolution of human amylase gene copy number variation.

Perry GH, Dominy NJ, Claw KG, Lee AS, Fiegler H, Redon R, Werner J, Villanea FA, Mountain JL, Misra R, Carter NP, Lee C, Stone AC.

Nat Genet. 2007 Oct;39(10):1256-60. Epub 2007 Sep 9.

25.

History of click-speaking populations of Africa inferred from mtDNA and Y chromosome genetic variation.

Tishkoff SA, Gonder MK, Henn BM, Mortensen H, Knight A, Gignoux C, Fernandopulle N, Lema G, Nyambo TB, Ramakrishnan U, Reed FA, Mountain JL.

Mol Biol Evol. 2007 Oct;24(10):2180-95. Epub 2007 Jul 26.

PMID:
17656633
26.

Family ties: the use of DNA offender databases to catch offenders' kin.

Greely HT, Riordan DP, Garrison NA, Mountain JL.

J Law Med Ethics. 2006 Summer;34(2):248-62. No abstract available.

PMID:
16789947
27.

Serial coalescent simulations suggest a weak genealogical relationship between Etruscans and modern Tuscans.

Belle EM, Ramakrishnan U, Mountain JL, Barbujani G.

Proc Natl Acad Sci U S A. 2006 May 23;103(21):8012-7. Epub 2006 May 15.

28.

Toward resolution of the debate regarding purported crypto-Jews in a Spanish-American population: evidence from the Y chromosome.

Sutton WK, Knight A, Underhill PA, Neulander JS, Disotell TR, Mountain JL.

Ann Hum Biol. 2006 Jan-Feb;33(1):100-11.

PMID:
16500815
29.

Detecting past population bottlenecks using temporal genetic data.

Ramakrishnan U, Hadly EA, Mountain JL.

Mol Ecol. 2005 Sep;14(10):2915-22.

PMID:
16101762
30.
31.

Assessing genetic contributions to phenotypic differences among 'racial' and 'ethnic' groups.

Mountain JL, Risch N.

Nat Genet. 2004 Nov;36(11 Suppl):S48-53.

PMID:
15508003
32.

Precision and accuracy of divergence time estimates from STR and SNPSTR variation.

Ramakrishnan U, Mountain JL.

Mol Biol Evol. 2004 Oct;21(10):1960-71. Epub 2004 Jul 14.

PMID:
15254260
33.

Molecular, forensic and haplotypic inconsistencies regarding the identity of the Ekaterinburg remains.

Knight A, Zhivotovsky LA, Kass DH, Litwin DE, Green LD, White PS, Mountain JL.

Ann Hum Biol. 2004 Mar-Apr;31(2):129-38.

PMID:
15204357
34.

The importance of race and ethnic background in biomedical research and clinical practice.

Burchard EG, Ziv E, Coyle N, Gomez SL, Tang H, Karter AJ, Mountain JL, Pérez-Stable EJ, Sheppard D, Risch N.

N Engl J Med. 2003 Mar 20;348(12):1170-5. No abstract available.

PMID:
12646676
35.

African Y chromosome and mtDNA divergence provides insight into the history of click languages.

Knight A, Underhill PA, Mortensen HM, Zhivotovsky LA, Lin AA, Henn BM, Louis D, Ruhlen M, Mountain JL.

Curr Biol. 2003 Mar 18;13(6):464-73. Erratum in: Curr Biol. 2003 Apr 15;13(8):705.

36.

SNPSTRs: empirically derived, rapidly typed, autosomal haplotypes for inference of population history and mutational processes.

Mountain JL, Knight A, Jobin M, Gignoux C, Miller A, Lin AA, Underhill PA.

Genome Res. 2002 Nov;12(11):1766-72.

37.

MAXIMUM-LIKELIHOOD ESTIMATION OF POPULATION DIVERGENCE TIMES AND POPULATION PHYLOGENY IN MODELS WITHOUT MUTATION.

Nielsen R, Mountain JL, Huelsenbeck JP, Slatkin M.

Evolution. 1998 Jun;52(3):669-677. doi: 10.1111/j.1558-5646.1998.tb03692.x.

PMID:
28565245
38.

Multilocus genotypes, a tree of individuals, and human evolutionary history.

Mountain JL, Cavalli-Sforza LL.

Am J Hum Genet. 1997 Sep;61(3):705-18.

39.

Detecting immigration by using multilocus genotypes.

Rannala B, Mountain JL.

Proc Natl Acad Sci U S A. 1997 Aug 19;94(17):9197-201.

40.

Seventy-five nuclear DNA polymorphisms in an Italian sample: a comparative worldwide study.

Matullo G, Griffo RM, Mountain JL, Calafell F, Guarrera S, Piazza A, Cavalli-Sforza LL.

Gene Geogr. 1997 Apr;11(1):15-35.

PMID:
9615211
41.

Demographic history of India and mtDNA-sequence diversity.

Mountain JL, Hebert JM, Bhattacharyya S, Underhill PA, Ottolenghi C, Gadgil M, Cavalli-Sforza LL.

Am J Hum Genet. 1995 Apr;56(4):979-92.

42.

Nuclear DNA polymorphism in a Mandenka population from Senegal: comparison with eight other human populations.

Poloni ES, Excoffier L, Mountain JL, Langaney A, Cavalli-Sforza LL.

Ann Hum Genet. 1995 Jan;59(1):43-61.

PMID:
7762984
43.
44.

Inference of human evolution through cladistic analysis of nuclear DNA restriction polymorphisms.

Mountain JL, Cavalli-Sforza LL.

Proc Natl Acad Sci U S A. 1994 Jul 5;91(14):6515-9.

45.

RFLP analysis on a sample from northern Italy.

Matullo G, Griffo RM, Mountain JL, Piazza A, Cavalli-Sforza LL.

Gene Geogr. 1994 Apr;8(1):25-34.

PMID:
7619773
46.

Subclustering of human immunoglobulin kappa light chain variable region genes.

Kurth JH, Mountain JL, Cavalli-Sforza LL.

Genomics. 1993 Apr;16(1):69-77.

PMID:
8486386
47.

Evolution of modern humans: evidence from nuclear DNA polymorphisms.

Mountain JL, Lin AA, Bowcock AM, Cavalli-Sforza LL.

Philos Trans R Soc Lond B Biol Sci. 1992 Aug 29;337(1280):159-65.

PMID:
1357690
48.

Coevolution of genes and languages revisited.

Cavalli-Sforza LL, Minch E, Mountain JL.

Proc Natl Acad Sci U S A. 1992 Jun 15;89(12):5620-4.

49.

Study of an additional 58 DNA markers in five human populations from four continents.

Bowcock AM, Hebert JM, Mountain JL, Kidd JR, Rogers J, Kidd KK, Cavalli-Sforza LL.

Gene Geogr. 1991 Dec;5(3):151-73.

PMID:
1841601
50.

Drift, admixture, and selection in human evolution: a study with DNA polymorphisms.

Bowcock AM, Kidd JR, Mountain JL, Hebert JM, Carotenuto L, Kidd KK, Cavalli-Sforza LL.

Proc Natl Acad Sci U S A. 1991 Feb 1;88(3):839-43.

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