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 Human Genetics

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 University of Utah

Marchani EE, Watkins WS, Bulayeva K, Harpending HC, Jorde LB.

Culture creates genetic structure in the Caucasus: Autosomal, mitochondrial, and Y-chromosomal variation in Daghestan.

BMC Genet. 2008 Jul 17;9(1):47.

Gangwal K, Sankar S, Hollenhorst PC, Kinsey M, Haroldsen SC, Shah AA, Boucher KM, Watkins WS, Jorde LB, Graves BJ, Lessnick SL.

Microsatellites as EWS/FLI response elements in Ewing's sarcoma.

Proc Natl Acad Sci U S A. 2008 Jul 14. [Epub ahead of print]

Prahalad S, Bohnsack JF, Whiting A, Clifford B, Jorde LB, Guthery SL, Thompson SD, Glass DN, Bamshad MJ.

Lack of association of functional CTLA4 polymorphisms with juvenile idiopathic arthritis.

Arthritis Rheum. 2008 Jun 24;58(7):2147-2152.

Xing J, Witherspoon DJ, Watkins WS, Zhang Y, Tolpinrud W, Jorde LB.

HapMap tagSNP transferability in multiple populations: General guidelines.

Genomics. 2008 Jul; 92(1):41-51. Epub 2008 May 14.

Tong Z, Yang Z, Patel S, Chen H, Gibbs D, Yang X, Hau VS, Kaminoh Y, Harmon J, Pearson E, Buehler J, Chen Y, Yu B, Tinkham NH, Zabriskie NA, Zeng J, Luo L, Sun JK, Prakash M, Hamam RN, Tonna S, Constantine R, Ronquillo CC, Sadda S, Avery RL, Brand JM, London N, Anduze AL, King GL, Bernstein PS, Watkins S; Genetics of Diabetes and Diabetic Complication Study Group, Jorde LB, Li DY, Aiello LP, Pollak MR, Zhang K.

Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications.

Proc Natl Acad Sci U S A. 2008 May 13;105(19):6998-7003. Epub 2008 May 5.

Xing J, Witherspoon DJ, Ray DA, Batzer MA, Jorde LB.

Mobile DNA elements in primate and human evolution.

Am J Phys Anthropol. 2007 Dec; 134(S45):2-19

Witherspoon DJ, Wooding S, Rogers AR, Marchani EE, Watkins WS, Batzer MA, Jorde LB.

Genetic Similarities Within and Between Human Populations.

Genetics. 2007 May;176(1):351-9.

Rogers AR, Wooding S, Huff CD, Batzer MA, Jorde LB.

Ancestral Alleles and Population Origins: Inferences Depend on Mutation Rate.
Mol Biol Evol. 2007 Apr;24(4):990-7.

Toydemir RM, Brassington AE, Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey JC, Bamshad MJ.

A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.
Am J Hum Genet. 2006 Nov;79(5):935-41.

Toydemir RM, Chen H, Proud VK, Martin R, van Bokhoven H, Hamel BC, Tuerlings JH, Stratakis CA, Jorde LB, Bamshad MJ.

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8.
Am J Med Genet A. 2006 Nov 15;140(22):2387-93.

Witherspoon DJ, Marchani EE, Watkins WS, Ostler CT, Wooding SP, Anders BA, Fowlkes JD, Boissinot S, Furano AV, Ray DA, Rogers AR, Batzer MA, Jorde LB.

Human Population Genetic Structure and Diversity Inferred from Polymorphic L1(LINE-1) and Alu Insertions.
Hum Hered. 2006 Sep 21;62(1):30-46.

Kim UK, Wooding S, Riaz N, Jorde LB, Drayna D.

Variation in the human TAS1R taste receptor genes.

Chem Senses. 2006 Sep;31(7):599-611.

Prahalad S, Bohnsack JF, Jorde LB, Whiting A, Clifford B, Dunn D, Weiss R, Moroldo M, Thompson SD, Glass DN, Bamshad MJ.

Association of two functional polymorphisms in the CCR5 gene with juvenile rheumatoid arthritis.
Genes Immun. 2006 Sep;7(6):468-75.

Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ.

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
Nat Genet. 2006 May;38(5):561-5.

Wooding S, Jorde LB.

Duplication and divergence in humans and chimpanzees.
Bioessays. 2006 Apr;28(4):335-8.

Watkins WS, Prasad BV, Naidu JM, Rao BB, Bhanu BA, Ramachandran B, Das PK, Gai PB, Reddy PC, Reddy PG, Sethuraman M, Bamshad MJ, Jorde LB.

Diversity and divergence among the tribal populations of India.
Ann Hum Genet. 2005 Nov;69(Pt 6):680-92.

Hedges DJ, Cordaux R, Xing J, Witherspoon DJ, Rogers AR, Jorde LB, Batzer MA.

Modeling the amplification dynamics of human Alu retrotransposons.
PLoS Comput Biol. 2005 Sep;1(4):e44. Epub 2005 Sep 30.

Karafet TM, Lansing JS, Redd AJ, Reznikova S, Watkins JC, Surata SP, Arthawiguna WA, Mayer L, Bamshad M, Jorde LB, Hammer MF.

Balinese Y-chromosome perspective on the peopling of Indonesia: genetic contributions from pre-neolithic hunter-gatherers, Austronesian farmers, and Indian traders.
Hum Biol. 2005 Feb;77(1):93-114.

Kim U, Wooding S, Ricci D, Jorde LB, Drayna D.

Worldwide haplotype diversity and coding sequence variation at human bitter taste receptor loci.
Hum Mutat. 2005 Sep;26(3):199-204.

Shriver MD, Mei R, Parra EJ, Sonpar V, Halder I, Tishkoff SA, Schurr TG, Zhadanov SI, Osipova LP, Brutsaert TD, Friedlaender J, Jorde LB, Watkins WS, Bamshad MJ, Gutierrez G, Loi H, Matsuzaki H, Kittles RA, Argyropoulos G, Fernandez JR, Akey JM, Jones KW.

Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variation.
Hum Genomics. 2005 Jun;2(2):81-9.

Nakajima T, Wooding S, Satta Y, Jinnai N, Goto S, Hayasaka I, Saitou N, Guan-Jun J, Tokunaga K, Jorde LB, Emi M, Inoue I.

Evidence for natural selection in the HAVCR1 gene: high degree of amino-acid variability in the mucin domain of human HAVCR1 protein.
Genes Immun. 2005 Aug;6(5):398-406.

Jorde LB.

Evolution. Where we're hot, they're not.
Science. 2005 Apr 1;308(5718):60-2.

Wooding S, Stone AC, Dunn DM, Mummidi S, Jorde LB, Weiss RK, Ahuja S, Bamshad MJ.

Contrasting effects of natural selection on human and chimpanzee CC chemokine receptor 5.
Am J Hum Genet. 2005 Feb;76(2):291-301. Epub 2004 Dec 29. Erratum in: Am J Hum Genet. 2005 Apr;76(4):715.

Carter AB, Salem AH, Hedges DJ, Keegan CN, Kimball B, Walker JA, Watkins WS, Jorde LB, Batzer MA.

Genome-wide analysis of the human Alu Yb-lineage.
Hum Genomics. 2004 Mar;1(3):167-78.

Jorde LB.

Genetic variation and cardiovascular care.
Manag Care. 2004 Oct;13(10 Suppl):9-12.

Jorde LB, Wooding SP.

Genetic variation, classification and 'race'.
Nat Genet. 2004 Nov;36(11 Suppl):S28-33.

Wooding S, Ostler C, Prasad BV, Watkins WS, Sung S, Bamshad M, Jorde LB.

Directional migration in the Hindu castes: inferences from mitochondrial, autosomal and Y-chromosomal data.
Hum Genet. 2004 Aug;115(3):221-9. Epub 2004 Jul 1.

Sakagami T, Witherspoon DJ, Nakajima T, Jinnai N, Wooding S, Jorde LB, Hasegawa T, Suzuki E, Gejyo F, Inoue I.

Local adaptation and population differentiation at the interleukin 13 and interleukin 4 loci.
Genes Immun. 2004 Aug;5(5):389-97.

Nakajima T, Wooding S, Sakagami T, Emi M, Tokunaga K, Tamiya G, Ishigami T, Umemura S, Munkhbat B, Jin F, Guan-Jun J, Hayasaka I, Ishida T, Saitou N, Pavelka K, Lalouel JM, Jorde LB, Inoue I.

Natural selection and population history in the human angiotensinogen gene (AGT): 736 complete AGT sequences in chromosomes from around the world.
Am J Hum Genet. 2004 May;74(5):898-916. Epub 2004 Apr 9.

Bulayeva K, Jorde LB, Ostler C, Watkins S, Bulayev O, Harpending H.

Genetics and population history of Caucasus populations.
Hum Biol. 2003 Dec;75(6):837-53.

Xing J, Salem AH, Hedges DJ, Kilroy GE, Watkins WS, Schienman JE, Stewart CB, Jurka J, Jorde LB, Batzer MA.

Comprehensive analysis of two Alu Yd subfamilies.
J Mol Evol. 2003;57 Suppl 1:S76-89.

Wooding S, Kim UK, Bamshad MJ, Larsen J, Jorde LB, Drayna D.

Natural selection and molecular evolution in PTC, a bitter-taste receptor gene.
Am J Hum Genet. 2004 Apr;74(4):637-46. Epub 2004 Mar 2.

Callinan PA, Hedges DJ, Salem AH, Xing J, Walker JA, Garber RK, Watkins WS, Bamshad MJ, Jorde LB, Batzer MA.

Comprehensive analysis of Alu-associated diversity on the human sex chromosomes.
Gene. 2003 Oct 23;317(1-2):103-10.

Salem AH, Ray DA, Xing J, Callinan PA, Myers JS, Hedges DJ, Garber RK, Witherspoon DJ, Jorde LB, Batzer MA.

Alu elements and hominid phylogenetics.
Proc Natl Acad Sci U S A. 2003 Oct 28;100(22):12787-91. Epub 2003 Oct 15.

Toomajian C, Ajioka RS, Jorde LB, Kushner JP, Kreitman M.

A method for detecting recent selection in the human genome from allele age estimates.
Genetics. 2003 Sep;165(1):287-97.

Sung SS, Brassington AM, Krakowiak PA, Carey JC, Jorde LB, Bamshad M.

Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B.
Am J Hum Genet. 2003 Jul;73(1):212-4.

Watkins WS, Rogers AR, Ostler CT, Wooding S, Bamshad MJ, Brassington AM, Carroll ML, Nguyen SV, Walker JA, Prasad BV, Reddy PG, Das PK, Batzer MA, Jorde LB.

Genetic variation among world populations: inferences from 100 Alu insertion polymorphisms.
Genome Res. 2003 Jul;13(7):1607-18. Epub 2003 Jun 12.

Brassington AM, Sung SS, Toydemir RM, Le T, Roeder AD, Rutherford AE, Whitby FG, Jorde LB, Bamshad MJ.

Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.
Am J Hum Genet. 2003 Jul;73(1):74-85. Epub 2003 Jun 3.

Salem AH, Kilroy GE, Watkins WS, Jorde LB, Batzer MA.

Recently integrated Alu elements and human genomic diversity.
Mol Biol Evol. 2003 Aug;20(8):1349-61. Epub 2003 May 30.

Vincent BJ, Myers JS, Ho HJ, Kilroy GE, Walker JA, Watkins WS, Jorde LB, Batzer MA.

Following the LINEs: an analysis of primate genomic variation at human-specific LINE-1 insertion sites.
Mol Biol Evol. 2003 Aug;20(8):1338-48. Epub 2003 May 30.

Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M.

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.
Am J Hum Genet. 2003 Mar;72(3):681-90.

Salem AH, Myers JS, Otieno AC, Watkins WS, Jorde LB, Batzer MA.

LINE-1 preTa elements in the human genome.
J Mol Biol. 2003 Feb 28;326(4):1127-46.

Bamshad MJ, Wooding S, Watkins WS, Ostler CT, Batzer MA, Jorde LB.

Human population genetic structure and inference of group membership.
Am J Hum Genet. 2003 Mar;72(3):578-89. Epub 2003 Jan 28.

Wooding SP, Watkins WS, Bamshad MJ, Dunn DM, Weiss RB, Jorde LB.

DNA sequence variation in a 3.7-kb noncoding sequence 5' of the CYP1A2 gene: implications for human population history and natural selection.
Am J Hum Genet. 2002 Sep;71(3):528-42. Epub 2002 Aug 9.

Lum JK, Jorde LB, Schiefenhovel W.

Affinities among Melanesians, Micronesians, and Polynesians: a neutral biparental genetic perspective.
Hum Biol. 2002 Jun;74(3):413-30.

Bamshad MJ, Mummidi S, Gonzalez E, Ahuja SS, Dunn DM, Watkins WS, Wooding S, Stone AC, Jorde LB, Weiss RB, Ahuja SK.

A strong signature of balancing selection in the 5' cis-regulatory region of CCR5.
Proc Natl Acad Sci U S A. 2002 Aug 6;99(16):10539-44. Epub 2002 Jul 29.

Myers JS, Vincent BJ, Udall H, Watkins WS, Morrish TA, Kilroy GE, Swergold GD, Henke J, Henke L, Moran JV, Jorde LB, Batzer MA.

A comprehensive analysis of recently integrated human Ta L1 elements.
Am J Hum Genet. 2002 Aug;71(2):312-26. Epub 2002 Jun 17.

Yu N, Chen FC, Ota S, Jorde LB, Pamilo P, Patthy L, Ramsay M, Jenkins T, Shyue SK, Li WH.

Larger genetic differences within africans than between Africans and Eurasians.
Genetics. 2002 May;161(1):269-74.

Luo HR, Lu XM, Yao YG, Horie N, Takeishi K, Jorde LB, Zhang YP.

Length polymorphism of thymidylate synthase regulatory region in Chinese populations and evolution of the novel alleles.
Biochem Genet. 2002 Feb;40(1-2):41-51.

Redd AJ, Roberts-Thomson J, Karafet T, Bamshad M, Jorde LB, Naidu JM, Walsh B, Hammer MF.

Gene flow from the Indian subcontinent to Australia: evidence from the Y chromosome.
Curr Biol. 2002 Apr 16;12(8):673-7.

Wooding S, Rogers A.

The matrix coalescent and an application to human single-nucleotide polymorphisms.
Genetics. 2002 Aug;161(4):1641-50. Download pdf

Nakajima T, Jorde LB, Ishigami T, Umemura S, Emi M, Lalouel JM, Inoue I.

Nucleotide diversity and haplotype structure of the human angiotensinogen gene in two populations.
Am J Hum Genet. 2002 Jan;70(1):108-23. Epub 2001 Nov 30. Download pdf

Jorde LB, Watkins WS, Bamshad MJ.

Population genomics: a bridge from evolutionary history to genetic medicine.
Hum Mol Genet. 2001 Oct 1;10(20):2199-207. Download pdf

Jorde LB.

Consanguinity and prereproductive mortality in the Utah Mormon population.
Hum Hered. 2001;52(2):61-5. Download pdf

Carroll ML, Roy-Engel AM, Nguyen SV, Salem AH, Vogel E, Vincent B, Myers J, Ahmad Z, Nguyen L, Sammarco M, Watkins WS, Henke J, Makalowski W, Jorde LB, Deininger PL, Batzer MA.

Large-scale analysis of the Alu Ya5 and Yb8 subfamilies and their contribution to human genomic diversity.
J Mol Biol. 2001 Aug 3;311(1):17-40. Download pdf

Bamshad M, Kivisild T, Watkins WS, Dixon ME, Ricker CE, Rao BB, Naidu JM, Prasad BV, Reddy PG, Rasanayagam A, Papiha SS, Villems R, Redd AJ, Hammer MF, Nguyen SV, Carroll ML, Batzer MA, Jorde LB.

Genetic evidence on the origins of Indian caste populations.
Genome Res. 2001 Jun;11(6):994-1004. [Download commentary by P. Majumder]   Download pdf

Jorde LB, Shortsleeve PA, Henry JW, Vanburen RT, Hutchinson LE, Rigley TM.

Genetic analysis of the Utah population: a comparison of STR and VNTR loci.
Hum Biol. 2000 Dec;72(6):927-36.

Watkins WS, Ricker CE, Bamshad MJ, Carroll ML, Nguyen SV, Batzer MA, Harpending HC, Rogers AR, Jorde LB.

Patterns of ancestral human diversity: an analysis of Alu-insertion and restriction-site polymorphisms.
Am J Hum Genet. 2001 Mar;68(3):738-52. Epub 2001 Feb 15. Download pdf

Yu N, Zhao Z, Fu YX, Sambuughin N, Ramsay M, Jenkins T, Leskinen E, Patthy L, Jorde LB, Kuromori T, Li WH. Global patterns of human DNA sequence variation in a 10-kb region on chromosome 1.
Mol Biol Evol. 2001 Feb;18(2):214-22. Download pdf

Fischer PR, Thacher TD, Pettifor JM, Jorde LB, Eccleshall TR, Feldman D.

Vitamin D receptor polymorphisms and nutritional rickets in Nigerian children.
J Bone Miner Res. 2000 Nov;15(11):2206-10.

Bulaj ZJ, Ajioka RS, Phillips JD, LaSalle BA, Jorde LB, Griffen LM, Edwards CQ, Kushner JP.

Disease-related conditions in relatives of patients with hemochromatosis.
N Engl J Med. 2000 Nov 23;343(21):1529-35.

Jorde LB.

Linkage disequilibrium and the search for complex disease genes.
Genome Res. 2000 Oct;10(10):1435-44. Download pdf

Zhao Z, Jin L, Fu YX, Ramsay M, Jenkins T, Leskinen E, Pamilo P, Trexler M, Patthy L, Jorde LB, Ramos-Onsins S, Yu N, Li WH. Worldwide DNA sequence variation in a 10-kilobase noncoding region on human chromosome 22.
Proc Natl Acad Sci U S A. 2000 Oct 10;97(21):11354-8. Download pdf

Kivisild T, Villems R, Jorde LB, Bamshad M, Kumar S, Hedrick P, Dowling T, Stoneking M, Parsons TJ, Irwin JA, Awadalla P, Eyre-Walker A, Smith JM.

Questioning Evidence for Recombination in Human Mitochondrial DNA.

Science. 2000 Jun 16;288(5473):1931a. Download pdf

Jorde LB, Watkins WS, Bamshad MJ, Dixon ME, Ricker CE, Seielstad MT, Batzer MA.

The distribution of human genetic diversity: a comparison of mitochondrial, autosomal, and Y-chromosome data.
Am J Hum Genet. 2000 Mar;66(3):979-88. Download pdf

Bamshad M, Jorde LB, Carey JC.

Getting a LEAD on EEC.
Am J Med Genet. 2000 Jan 17;90(2):183-4.

Jorde LB, Watkins WS, Kere J, Nyman D, Eriksson AW.

Gene mapping in isolated populations: new roles for old friends?
Hum Hered. 2000 Jan-Feb;50(1):57-65.

Wooding S.

PRoMT: inferring demographic history from DNA sequences.
Bioinformatics. 2000 Mar;16(3):298-9. Download pdf

Wooding S, Rogers A.

A Pleistocene population X-plosion?
Hum Biol. 2000 Aug;72(4):693-5. Download pdf

Ding YC, Wooding S, Harpending HC, Chi HC, Li HP, Fu YX, Pang JF, Yao YG, Yu JG, Moyzis R, Zhang Y. Population structure and history in East Asia.
Proc Natl Acad Sci U S A. 2000 Dec 5;97(25):14003-6 Download pdf

Watkins WS, Bamshad M, Dixon ME, Bhaskara Rao B, Naidu JM, Reddy PG, Prasad BV, Das PK, Reddy PC, Gai PB, Bhanu A, Kusuma YS, Lum JK, Fischer P, Jorde LB. (1999)

Multiple Origins of the mtDNA 9-bp Deletion in Populations of South India. Am. J. Phys. Anthropol. 109:147-58 Download pdf

Bamshad M, Le T, Watkins WS, Dixon ME, Kramer BE, Roeder AD, Carey JC, Root S, Schinzel A, Van Maldergem L, Gardner RJ, Lin RC, Seidman CE, Seidman JG, Wallerstein R, Moran E, Sutphen R, Campbell CE, Jorde LB. (1999)

The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome. Am. J. Hum. Genet. 64:1550-62   Download pdf 

L.B. Jorde,W.S. Watkins, J. Kere, D. Nyman, A.W. Eriksson.  (1999) 

Gene Mapping in Isolated Populations: New Roles for Old Friends? Human Heredity 50:57-65  Download pdf

Lynn B. Jorde, Michael Bamshad, and Alan R. Rogers. (1998)

Using mitochondrial and nuclear DNA markers to reconstruct human evolution BioEssays 20:126-136  Download pdf

Kivisild T, Bamshad MJ, Kaldma K, Metspalu M, Metspalu E, Reidla M, Laos S, Parik J, Watkins WS, Dixon ME, Papiha SS, Mastana SS, Mir MR, Ferak V, Villems R. (1999)

Deep common ancestry of indian and western-Eurasian mitochondrial DNA lineages. Curr Biol. 9:1331-4  Download pdf

Gonzalez E, Bamshad M, Sato N, Mummidi S, Dhanda R, Catano G, Cabrera S, McBride M, Cao XH, Merrill G, O'Connell P, Bowden DW, Freedman BI, Anderson SA, Walter EA, Evans JS, Stephan KT, Clark RA, Tyagi S, Ahuja SS, Dolan MJ, Ahuja SK.  (1998)

Race-specific HIV-1 disease-modifying effects associated with CCR5 haplotypes. Proc. Natl. Acad. Sci. 96:12004-12009  Download pdf

Bamshad MJ, Watkins WS, Dixon ME, Jorde LB, Rao BB, Naidu JM, Prasad BV, Rasanayagam A, Hammer MF. (1998)

Female gene flow stratifies Hindu castes.  Nature 395:651-2   Download pdf

Harpending HC, Batzer MA, Gurven M, Jorde LB, Rogers AR, Sherry ST. (1998) 

 Genetic traces of ancient demography. Proc. Natl. Acad. Sci. USA 95:1961-7   Download pdf

Jorde LB, Rogers AR, Bamshad M, Watkins WS, Krakowiak P, Sung S, Kere J, Harpending HC. (1997)

Microsatellite diversity and the demographic history of modern humans.  Proc. Natl. Acad. Sci. USA.  94:3100-3   Download pdf

Wooding, S., Ward, R.H. (1997)

Phylogeography and Pleistocene evolution in the North American black bear. Molecular Biology and Evolution 14:1096-1105   Download pdf

 

 

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Last update: July 21, 2008