publications

Original Scientific Publications

2006 - Clinical Characteristics and Natural History of Freeman-Sheldon syndrome. Pediatrics 117:754-762.
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69. Stevenson DA, Carey JC, Palumbos J, Rutherford A, Bamshad M (2006) Clinical Characteristics and Natural History of Freeman-Sheldon syndrome. Pediatrics 117:754-762.
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PMID:16510655 [PubMed - indexed for MEDLINE]
2006 - Clusters and continua in individual-level analyses of human population structure. Human Genomics 2005 2:81-89.
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70. ShriverMD, Mei R, Parra Ej, Sonpar C, Halder I, Tishkoff SA, Schurr TG, Zhadanov SI, Osipova LP, Brutsaert T, Friedlaender J, Jorde LB, Watkins WS, Bamshad MJ, Gutierez G, Loi H, Matsuzaki H, Argyropoulos G, Fernandez J, Kittles RA, Akey JM, Jones K (2006) Clusters and continua in individual-levelanalyses of human population structure. Human Genomics 2005 2:81-89.
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PMID:16004724 [PubMed - indexed for MEDLINE]
2006 - Independent evolution of bitter-taste sensitivity in humans and chimpanzees. Nature 440:930-934 (coverarticle).
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71. WoodingS, Stone AC, Dunn DM, Drayna D, Weiss RB, Bamshad M (2006) Independent evolution of bitter-taste sensitivity inhumans and chimpanzees. Nature 440:930-934 (cover article).
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PMID:16612383 [PubMed - indexed for MEDLINE]
2006 - Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nature Genetics 38:561-565.
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72. Toydemir RM, Rutherford A,Whitby FG, Jorde LB, Carey JC, BamshadMJ (2006) Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nature Genetics 38:561-565.
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PMID:16642020 [PubMed - indexed for MEDLINE]
2006 - Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR 27:975-976.
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73. Borozdin W, Bravo Ferrer Acosta AM, Bamshad MJ, Botzenhart EM, Froster UG, Lemke J, Schinzel A, Spranger S, McGaughran J, Wand D, Chrzanowska KH, Kohlhase J (2006) Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations. Human Mutation 27:975-986.
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PMID:16917909 [PubMed - indexed for MEDLINE]
2006 - Continuous hemizygous deletion of TBX5, TBX3, AND RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes 140:1880-1886.
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74. Borozdin W, Bravo-Ferrer Acosta AM, SeemanovaE, Leipoldt M, Bamshad MJ, Unger S, Kohlhase J. Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype ofHolt-Oram and ulnar-mammary syndromes (2006) American Journal MedicalGenetics 140:1880-1886.
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PMID:16892408 [PubMed - indexed for MEDLINE]
2006 - Association of two functional polymorphisms in the CCR5 gene with juvenile rheumatoid arthritis. Genes Immunology 7:468-475.
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75. Prahalad S, Bohnsack JF, Jorde LB, Whiting A, Clifford B, Dunn D, Weiss R, Moroldo M, Thompson SD, Glass DN, Bamshad MJ (2006) Association of two functional polymorphisms in the CCR5 gene with juvenile rheumatoid arthritis. Genes Immunology 7:468-475.
PUBMED LINK
PMID:16775617 [PubMed - indexed for MEDLINE]

76. Everman DB, Morgan CT, Lyle R, Laughridge ME, BamshadMJ,Clarkson KB, Colby R, Gurrieri F, Innes AM, Roberson J, Schrander-Stumpel C, vanBokhoven H, Antonarakis SE, Schwartz CE (2006) Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.American Journal Medical Genetics 140:1375-1383.
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PMID:16761290 [PubMed - indexed for MEDLINE]
2005 - Contrasting effects of natural selection on human and chimpanzee CCR5. American Journal of Human Genetics 76:291-301.
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62. WoodingS, Stone AC, Dunn DM, Jorde LB, Weiss RB, Ahuja SK, Bamshad MJ (2005) Contrasting effects of natural selection on human and chimpanzee CCR5. American Journal of Human Genetics 76:291-301.
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PMID: 15625621 [PubMed - indexedfor MEDLINE]
2005 - Contrasting patterns of Y chromosome and mtDNA variation in Africa: Evidence for sex-biased demographic processes. European Journal of Human Genetics 13:867-876.
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63. Wood ET, StoverDA, Ehret C, Destro-Bisol G, Spedini G, McLeod H, Louie L, Bamshad M, Strassmann BI, Soodyall H, Hammer MF (2005) Contrasting patterns of Y chromosome and mtDNA variation in Africa: Evidencefor sex-biased demographic processes. European Journal of Human Genetics 13:867-876.
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PMID: 15856073 [PubMed - indexedfor MEDLINE]
2005 - Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister Hall syndromes... American Journal of Human Genetics 76:609-622.
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64. Johnston JJ, Olivos-Glander I, Killoran C,Elson E,Turner J, Peters K, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ,Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham Jr JM, Grange K, Guttmacher AE, HannibalM, Henn W, Hennekam RCM, HolmesLB, Hoyme HE, Leppig KA, Lin AE, MacLeod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MM, Mendelsohn NJ, MoeschlerJB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips III JA, Sadler LA, Stoler JM, Tilstra D, WalshVockley CM, Zackai EM,Zadeh TM, Brueton L, Black GCM, BieseckerLG (2005) Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister Hall syndromes: Robust phenotype prediction from the type and position of GLI3 mutations. American Journal of Human Genetics 76:609-622.
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PMID: 15739154 [PubMed - indexed for MEDLINE]
2005 - The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 307:1434-1440.
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65. GonzalezE, Kulkarni H, Bolivar H, Mangano A, Sanchez R, Catano G, Nibbs RJ, FreedmanBI, Quinones MP, Bamshad MJ, Murthy KK, Rovin BH, Bradley W, Clark RA, Anderson SA, O'connell RJ, Agan BK, Ahuja SS, Bologna R, Sen L, Dolan MJ, Ahuja SK (2005) The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AID Ssusceptibility. Science 307:1434-1440.
PUBMED LINK
PMID:15637236 [PubMed - indexed for MEDLINE]
2005 - Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63. American Journal Medical Genetics 138:146-149.
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66. Slavotinek AM, Tanaka J, Winder A, Vargervik K, Haggstrom A, Bamshad M (2005) Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63. American Journal Medical Genetics 138:146-149.
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PMID:16114047 [PubMed - indexed for MEDLINE]
2005 - Diversity and divergence among the tribal populations of India. Annals Human Genetics 69:680-692.
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67. Watkins WS, PrasadBV, Naidu JM, Rao BB, Bhanu BA, Ramachandran B, Das PK, Gai PB, Reddy PC, ReddyPG, Sethuraman M, Bamshad MJ, Jorde LB (2005) Diversity and divergenceamong the tribal populations of India. Annals Human Genetics 69:680-692.
PUBMED LINK
PMID:16266407 [PubMed - indexed for MEDLINE]
2005 - A Balinese Y chromosome perspective on the peopling of Indonesia: genetic contributions from pre-Neolithic hunter-gatherers, Austronesian farmers, and Indian Traders. Human Biology 77:93-114
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68. Karafet TM, Lansing JS, Redd AJ, Watkins JC, Surata SPK, Arthawiguna WA, Mayer L, BamshadM, Jorde LB, HammerMF (2005) A Balinese Y chromosome perspective on the peopling of Indonesia: genetic contributions from pre-Neolithic hunter-gatherers, Austronesian farmers, and Indian traders. Human Biology 77:93-114.
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PMID:16114819 [PubMed - indexed for MEDLINE]
2004 - Natural selection and molecular evolution in PTC, a bitter-taste receptor gene. American Journal of Human Genetics 74:637-46.
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57. Wooding S, Kim U, Bamshad MJ, Larsen J, Jorde LB, Drayna D (2004) Natural selection and molecular evolution in PTC, a bitter taste receptor gene American Journal of Human Genetics 74:637-646.
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PMID: 14997422 [PubMed - indexedfor MEDLINE]
2004 - Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nature Genetics 36:631-5.
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58. Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA,Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG (2004) Cornelia deLange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nature Genetics 36:631-635.
PUBMED LINK
PMID:15146186 [PubMed - indexed for MEDLINE]
2004 - NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nature Genetics 36:636-41.
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59. Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T (2004) NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nature Genetics 36:636-641.
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PMID: 15146185 [PubMed - indexed for MEDLINE]
2004 - Directional migration in the Hindu castes: inferences from mitochondrial, autosomal and Y-chromosomal data. Human Genetics 115:221-9.
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60. Wooding S, Ostler C, Prasad BVR, Watkins WS, Sung S, Bamshad M, Jorde LB (2004) Directional migration in the Hindu castes: inferences from mitochondrial, autosomal, and Y-chormosomal data. Human Genetics 115:221-229.
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PMID: 15232732 [PubMed - indexed for MEDLINE]
2004 - Familial aggregation of juvenile idiopathic arthritis. Arthritis and Rheumatology 50:4022-4027.
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61. Prahalad S, O'Brien E, Fraser AM, Kerber RA, Mineau GP, Pratt D, Donaldson D, Bamshad MJ, Bohnsack (2004) Familial aggregation of juvenile idiopathic arthritis. Arthritis and Rheumatology 50:4022-4027.
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PMID: 15593218 [PubMed - indexed for MEDLINE]
2003 - Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. American Journal of Human Genetics 72:681-690.
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49. Sung S, Brassington A, Grannatt K, Whitby FG, Krakowiak PA, Jorde LB, Carey J, Bamshad M (2003) Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. American Journal of Human Genetics 72:681-690.
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PMID: 12592607 [PubMed -indexed for MEDLINE]
2003 - Population genetic structure and human classification American Journal of Human Genetics 72:578-589.
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50. Bamshad MJ, Wooding S,Watkins WS, Ostler C, Jorde LB (2003) Population genetic structure and human classification. American Journal of Human Genetics 72:578-589.
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PMID: 12557124 [PubMed -indexed for MEDLINE]
2003 - Comprehensive analysis of Alu associated diversity on the human sex chromosomes. Gene317:103-110.
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51. Callinan PA, Hedges DJ, Salem A, Xing J, Walker JA, Garber RK, Watkins WS, Bamshad MJ, Jorde LB, Batzer MA (2003) Comprehensive analysis of Alu associated diversity on the human sex chromosomes Gene 317:103-110.
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PMID: 14604797 [PubMed -indexed for MEDLINE]
2003 - Genetic variation among world populations using 100 polymorphic Alu insertion elements. Genome Research 13:1607-1618.
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52. Watkins WS, Rogers AR, Ostler CT, BrassingtonA, Walker JA, Bamshad M, Batzer MA, Jorde LB (2003) Genetic variation among world populations using 100 polymorphic Alu insertion elements. Genome Research 13:1607-1618.
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PMID: 12805277 [PubMed -indexed for MEDLINE]
2003 - Expressivity of Holt-Oram Syndrome is not predicted by TBX5 genotype. American Journal of Human Genetics 73:74-85.
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53. Brassington A, Sung S, Toydemir RM, Trung L,Roeder AD, Rutherford AE, Whitby FG, Jorde LB, Bamshad M (2003) Expressivity of Holt-Oram Syndrome is not predicted by TBX5 genotype. American Journal of Human Genetics 73:74-85.
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PMID: 12789647 [PubMed -indexed for MEDLINE]
2003 - Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. American Journal of Human Genetics 73:212-214.
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54. SungS, Brassington A, Krakowiak PA, Jorde LB, Bamshad M (2003) Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. American Journal of Human Genetics 73:212-214.
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PMID: 12865991 [PubMed -indexed for MEDLINE]
2003 - A Genomic Rearrangement Resulting in a Tandem Duplication is Associated with Split Hand-Split Foot Malformation 3 (SHFM3) at 10q24 Human Molecular Genetics. Human Molecular Genetics 16:1959-1971
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55. de Mollerat XJ, Gurrieri F, Morgan CT, Sangiorgi E, Everman DB, Gaspari P, Amiel J, Bamshad MJ, Lyle R, Blouin JL, Allanson JE, Le Marec B, Wilson M, Braverman NE, Radhakrishna U, Delozier-Blanchet C, Abbott A, Elghouzzi V, Antonarakis S,Stevenson RE, Munnich A, Neri G, Schwartz CE (2003) A Genomic Rearrangement Resulting in a Tandem Duplication is Associated with Split Hand-Split Foot Malformation 3 (SHFM3) at 10q24 Human Molecular Genetics. Human Molecular Genetics 16:1959-1971
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PMID: 12913067 [PubMed -indexed for MEDLINE]
2002 - Mixed Clefting Type in Rapp-Hodgkin Syndrome. American Journal of Medical Genetics 108:281-284.
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44. DE Neilson, JW Brunger, S Heeger, M Bamshad, NH Robin (2002) Mixed Clefting Type in Rapp-Hodgkin Syndrome. American Journal ofMedical Genetics 108:281-284.
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PMID: 11920831 [PubMed -indexed for MEDLINE]
2002 - Holocene paternal gene flow from the Indian subcontinent to Australia. Current Biology 12:673-677.
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45. ReddAJ, Karafet T, Roberts-Thomsom J, Bamshad M, Jorde L, Naidu JM, Hammer MF(2002) Holocene paternal gene flow from the Indian subcontinent to Australia. Current Biology 12:673-677.
PUBMED LINK
PMID: 11967156 [PubMed -indexed for MEDLINE]
2002 - A strong signature of balancing selection in the promoter of CCR5. Proceedings of the National Academy of Sciences 99:10539-44.
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46. Bamshad MJ,Mummidi S, Gonzalez E, Ahuja SS, Dunn DM, Watkins WS, Wooding S, Stone AC, Jorde LB, Weiss RB, Ahuja SK (2002) A strong signature of balancing selection in the promoter of CCR5. Proceedings of the National Academy of Sciences, USA 99:10539-10544.
PUBMED LINK
PMID: 12149450 [PubMed -indexed for MEDLINE]
2002 - DNA variation in a 3.7 kb noncoding sequence 5' of the CYP1A2 gene: implications for human origins and gene mapping. American Journal of Human Genetics 71:528-542.
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47. JordeLB, Watkins WS, Bamshad MJ, Dunn DM, Weiss RB (2002) DNA variation in a 3.7 kb noncoding sequence 5' of the CYP1A2 gene: implications for human origins and gene mapping. American Journal of Human Genetics 71:528-542.
PUBMED LINK
PMID: 12181774 [PubMed -indexed for MEDLINE]
2002 - HIV-1 infection and AIDS dementia are influenced by a mutant MCP-1 allele linked to increased monocyte infiltration of tissues and MCP-1 levels. Proceedings of the National Academy of Sciences
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48. GonzalezE, Dhanda R, Mummidi S, Bamshad M, Telles V, Anderson SA, Walter EA, Stephan KT, Ahuja SS,Dolan MJ, Ahuja SK (2002) A mutant MCP-1 allele alters risks of HIV-1 infection and HIV-associated dementia. Proceedings of the National Academy of Sciences, USA 99:13795-13800.
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PMID: 12374865 [PubMed - indexed for MEDLINE]
2001 - Patterns of ancestral diversity: an analysis of Alu insertions and restriction site polymorphisms. American Journal of Human Genetics 68:738-752.
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35. Watkins WS, Ricker CE, Bamshad MJ, Carroll ML, Nguyen SV, Batzer MA, Jorde LB (2001) Patterns of ancestral diversity: an analysis of Alu insertions and restriction site polymorphisms. American Journal of Human Genetics 68:738-752.
PUBMED LINK
PMID: 11179020 [PubMed -indexed for MEDLINE]
2001 - Hay-Wells syndrome is caused by missense mutations in the SAM domain of p63 Human Molecular Genetics 10:221-229.
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36. McGrath JA, Duijf P, Doetsch V, Irivine AD, de Waal R, Vanmolkot K, Wessagowit V, Kelly A, Atherton DJ, Griffiths WAD, Orlow SJ, van Haeringen A, Ausems M, Yang A, McKeon F, Bamshad MJ, Brunner HG, Hamel BCJ, van Bokhoven H (2001) Hay-Wells syndrome is caused by missense mutations in the SAM domain of p63. Human Molecular Genetics 10:221-229.
PUBMED LINK
PMID: 11159940 [PubMed - indexed forMEDLINE]
2001 - Global survey of genetic variation in CCR5, RANTES, and MIP-1alpha: impact on the epidemiology of the HIV-1 pandemic. Proceedings of the National Academy of Sciences 98:5199-204.
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37. *GonzalezE, *Dhanda R, *Bamshad M, *Mummidi S, Geevarghese R, Catano G, Anderson SA, Walter EA, StephanKT, Hammer MF, Mangano A, Sen L, Clark RA, Ahuja SS, Dolan MJ, Ahuja SK (2001) Global survey of genetic variation in CCR5, RANTES, and MIP-1a: Impact on the epidemiology of the HIV-1 pandemic. Proceedings of the National Academy of Sciences, USA 98(9):5199-5204.
PUBMED LINK
PMID: 11320252 [PubMed - indexed for MEDLINE]
2001 - Concordance between the CCR5 genetic determinants that alter risks of transmission and diseasechildr progression in en perinatally exposed to HIV-1. Journal of Infectious Disease 183:1574-1585.
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38. ManganoA, Gonzalez E, Dhanda R, Cabrera S, Bamshad M, Cao H, Catano G, Bock A, Mummidi S,Ahuja S, Dolan M, Bologna R, Sen L, Ahuja S(2001) Concordance between the CCR5 genetic determinants that alter risks of transmission and disease progression in children perinatally exposed to HIV-1. Journal of Infectious Disease 183:1574-1585.
PUBMED LINK
PMID: 11335892 [PubMed - indexed for MEDLINE]
2001 - Genetic evidence on the origins of Indian caste populations. Genome Research 11:994-1004.
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39. Bamshad M, Kivisild T, Watkins WS, Dixon ME, Bhaskara BB, Naidu JM, Prasad BVR, Reddy PG,Rasanayagam A, Papiha SS, Redd A, Hammer MH, Villems R, Jorde LB (2001) Genetic evidence on the origins of Indian caste populations. Genome Research 11:994-1004.
PUBMED LINK
PMID: 11381027 [PubMed -indexed for MEDLINE]
2001 - Clinical analysis of families with heart, midline, and laterality defects. American Journal of Medical Genetics 101:388-92.
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40. MorelliSH, Yong LT, Reid B, Ruttenberg H, Bamshad MJ (2001) Clinical analysis of families with heart, midline and laterality defects. American Journal of Medical Genetics 101:388-392.
PUBMED LINK
PMID: 11471163 [PubMed -indexed for MEDLINE]
2001 - Identical mutations in NOG can cause either tarsal / carpal coalition syndrome or proximal symphalangism. Genetics in Medicine 3:349-353.
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41. Dixon ME, Armstrong P, Stevens DB, Bamshad M (2001) Identical mutations in NOG can cause either tarsal / carpal coalition syndrome or proximal symphalangism. Genetics in Medicine 3:349-353.
PUBMED LINK
PMID:11545688 [PubMed - indexed for MEDLINE]
2001 - Pattern of involvement of the p63 gene in EEC syndrome and in isolated split-hand split-foot malformation. American Journal of Human Genetics 69:481-92.
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42. vanBokhoven H, Hamel BCJ, Gurrieri F, Bamshad M, Duijf PHG, Vanmolkot K, vanBeusekom E, van Beersum SEC, Celli J, Merkx GFM, Tenconi R, Fryins JP, VerloesA, Newbury-Ecob RA, Raas-Rotschild A, Majewski F, Beemer FA, Janecke A, Chitayat D, Crisponi G, Kayserili H, Neri G, Brunner HG (2001) Pattern of involvement of the p63 gene in EEC syndrome and in isolated split-hand split-foot malformation. American Journal of Human Genetics 69:481-92.
PUBMED LINK
PMID: 11462173 [PubMed -indexed for MEDLINE]
2001 - Mitochondrial DNA variation in Nicobarese Islanders. Human Biology 73:715-725.
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43. PrasadBVR, Ricker CE, Watkins WS, Dixon ME, Rao BB, Naidu JM, Jorde LB, Bamshad M (2001) Mitochondrial DNA variationin Nicobarese Islanders. Human Biology 73:715-725.
PUBMED LINK
PMID: 11758691 [PubMed -indexed for MEDLINE]
2000 - The distribution of human genetic diversity: a comparison of mitochondrial, autosomal, and Y-chromosome data. American Journal of Human Genetics 66:979-88.
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32. Jorde LB, Watkins WS, Bamshad MJ, Dixon ME, Ricker CE, Seielstad MT, Batzer MA (2000) The distribution of human genetic diversity: a comparison of mitochondrial, autosomal, and Y chromosome data. American Journal of Human Genetics 66:979-988.
PUBMED LINK
PMID: 10712212 [PubMed -indexed for MEDLINE]
2000 - Evolution of human and non-human primate CC chemokine receptor 5 gene and mRNA. Journal of Biological Chemistry 275:18946-18961.
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33. *Mummidi S, *Bamshad M, Ahuja SS, Gonzalez E, Feuillet PM, Begum K, Galvis MC, Kostecki V, Valente AJ, Murthy K, Haro L, Dolan MJ, AllanJS, Ahuja SK (2000) Evolution of human and non-human primate CC chemokine receptor5 gene and mRNA. Journal of Biological Chemistry 275:18946-18961.
PUBMED LINK
PMID: 10747879 [PubMed -indexed for MEDLINE]
2000 - Questioning evidence for recombination in human mitochondrial DNA. Science 288(5473):1931a.
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34. Jorde LB and Bamshad M (2000) Questioning evidence for recombination in human mitochondrial DNA. Science 288(5473):1931a.
PUBMED LINK
PMID: 10877699 [PubMed -indexed for MEDLINE]
1999 - A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a LYS650 Met mutation... American Journal of Human Genetics 64:722-731.
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24. Tavormina PL, Bellus GA, Webster M, BamshadM, Fraley AE, McIntosh I, Szabo J, Jiang W, Jabs EW, Wilcox WR, Wasmuth JJ, Donoghue DJ,Thompson M., Francomano CL (1999) A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a LYS650 Met mutation in the fibroblast growth factor receptor 3 gene. American Journal of Human Genetics 64:722-731.
PUBMED LINK
PMID: 10053006 [PubMed -indexed for MEDLINE]
1999 - High polymorphism at the human melanocortin 1 receptor locus. Genetics 151(4):1547-1557.
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25. Rana BK, Hewett-Emmett D, Jin L,Chang BHJ, Sambuughin N, Lin M, Watkins W, Bamshad M, Jorde LB, Ramsay M, Jenkins T, LiWH (1999) High polymorphism at the human melanocortin 1 receptor locus. Genetics 151(4):1547-1557.
PUBMED LINK
PMID: 10101176 [PubMed -indexed for MEDLINE]
1999 - The spectrum of mutations in TBX3: genotype-phenotype relationship in ulnar-mammary syndrome. American Journal of Human Genetics 64:1550-1562.
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26. Bamshad M, Le T, Watkins WS, Dixon ME, Kramer BE, Roeder AD, Carey JC, Root S, Schinzel A, Van Maldergem L, Gardner M, LinRC, 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. American Journal of Human Genetics 64:1550-1562.
PUBMED LINK
PMID: 10330342 [PubMed -indexed for MEDLINE]
1999 - Multiple origins of the mtDNA 9-bp deletion in populations of South India. American Journal of Physical Anthropology 109:147-158.
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27. Watkins WS, Bamshad M, Dixon ME, Bhaskara BR, Naidu JM,Reddy PG, Prasad BVR, 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 inpopulations of South India. American Journal of Physical Anthropology 109:147-158.
PUBMED LINK
PMID: 10378454 [PubMed - indexed for MEDLINE]
1999 - Race-specific HIV-1 disease-modifying effects associated with CCR5 haplotypes. Proceedings of the National Academy of Sciences 96:12004-9.
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28. *Gonzalez E, *Bamshad M, *Mummid S, *Sato N, *Dhanda R, Catano G, Begum K, CabreraS, McBride M, Cao X, Bock A, Kostecki V, Telles V, Merrill G, Kramer B, Hilsenbeck S, O'Connell P, Nicholls N, Tyagi S, Anderson S, Walter E, Evans J,Stephan K, Haro L, Clark R, Ahuja S, Dolan M, Ahuja S (1999) Race-specificHIV-1 disease-modifying effects of CCR5 haplotypes. Proceedings of the National Academy of Sciences, USA96:12004-12009.
PUBMED LINK
PMID: 10518566 [PubMed -indexed for MEDLINE]
1999 - Heterozygous mutations in the p53 homologue p63 cause limb malformations and ectodermal dysplasia in humans. Cell 9:143-153.
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29. Celli J, Duijf P, Hamel BCJ, Bamshad M, Kramer B, Newbury-Ecob R, Hennekam RC, Van Buggenhout G, van Haeringen A, Woods CG, vanEssen Aj, de Wall R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, vanBokhoven H (1999) Heterozygous mutations in the p53 homologue p63 cause limb malformations and ectodermal dysplasia in humans. Cell 9:143-153.
PUBMED LINK
PMID: 10535733 [PubMed -indexed for MEDLINE]
1999 - Deep common ancestry of Indian and western Eurasian mtDNA lineages. Currrent Biology 9:1331-1334.
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30. Kivisild T, Bamshad M, Kaldma K, Metspalu M, Metspalu E, Laos S, Watkins WE, Dixon ME, Papiha SS, Mastana SS, Manzoor RM, Ferak V, Villems R (1999) Deep common ancestry of Indian and western Eurasian mtDNA lineages. Currrent Biology 9:1331-1334.
PUBMED LINK
PMID: 10574762 [PubMed -indexed for MEDLINE]
1999 - Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN)... American Journal of Medical Genetics 85:53-65.
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31. Bellus GA, Bamshad M, Przylepa KA, Dorst J, Lee RR,Hurko O, Jabs EW, Curry C Jr, Wilcox WR, Lachman RS, Rimoin DL, Francomano CA(1999) Severe achondroplasia with developmental delay and acanthosis nigricans(SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a LYS650Met mutation in fibroblast growth factor receptor 3. American Journal of Medical Genetics85:53-65.
PUBMED LINK
PMID: 10377013 [PubMed -indexed for MEDLINE]
1998 - Wolf-Hirschhorn syndrome and a split hand malformation. American Journal of Medical Genetics 75:351-354.
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18. Bamshad M, O'Quinn, JR, and Carey JC (1998) Wolf-Hirschhorn syndrome and a split hand malformation. American Journal of Medical Genetics75:351-354.
PUBMED LINK
PMID: 9482640 [PubMed - indexedfor MEDLINE]
1998 - Using mitochondrial and nuclear DNA markers to reconstruct human evolution. Bioessays 20:126-136.
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19. Jorde LB, Bamshad M, Rogers AR (1998) Using mitochondrial and nuclear DNA markers to reconstruct human evolution. Bioessays 20:126-136.
PUBMED LINK
PMID: 9631658 [PubMed - indexedfor MEDLINE]
1998 - Clinical analysis of a variant of Freeman-Sheldon Syndrome (DA2B). American Journal of Medical Genetics 76:93-98.
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20. Krakowiak PA, Bohnsack JF, Carey JC,and Bamshad M (1998) Clinical analysis of a variant of Freeman-Sheldon Syndrome (DA2B). American Journal of Medical Genetics 76:93-98.
PUBMED LINK
PMID: 9508073 [PubMed - indexedfor MEDLINE]
1998 - Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. American Journal Human Genetics 62:130-5.
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21. O'Quinn JR, Hennekam RC, Jorde LB,and Bamshad M (1998) Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. American Journal of Human Genetics 62:130-135.
PUBMED LINK
PMID: 9443880 [PubMed - indexed for MEDLINE]
1998 - Signatures of population expansion in microsatellite repeat data. Genetics 148:1921-1930.
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22. Kimmel MR, Chakraborty R, Bamshad M, Watkins WS, Jorde LB. (1998) Signatures of population expansion in microsatellite repeat data. Genetics 148: 1921-1930.
PUBMED LINK
PMID: 9560405 [PubMed - indexedfor MEDLINE]
1998 - Female gene flow causes genetic stratification of the Hindu caste system. Nature 395:651-652.
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23. BamshadM, Watkins WS, Dixon ME, Bhaskara BR, Naidu JM, Rasanayagam A, Hammer ME, Jorde LB. (1998) Female gene flow causes genetic stratification of the Hindu caste system. Nature 395:651-652.

PUBMED LINK
PMID: 9790184 [PubMed - indexed for MEDLINE]
1997 - A variant of Freeman-Sheldon syndrome maps to chromosome 11p15.5-pter. American Journal of Human Genetics 60:426-432.
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15. Krakowiak PA, O'Quinn JR, Watkins WS, Bohnsack JB, Carey JC, Jorde LB, Bamshad M (1997) A variant of Freeman-Sheldon syndrome maps to chromosome 11p15.5-pter. American Journal of Human Genetics 60:426-432.
PUBMED LINK
PMID: 9012416 [PubMed - indexed for MEDLINE]
1997 - Microsatellite diversity and the demographic history of modern humans. Proceedings of the National Academy of Sciences 94:3100-3103.
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16. 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. Proceedings of the National Academy of Sciences 94:3100-3103.
PUBMED LINK
PMID: 9096352 [PubMed - indexed for MEDLINE]
1997 - Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.
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17. Bamshad M, Lin RC, Law DJ, Watkins WS, Krakowiak PA, Moore ME, Franceschini P, Lala R, Holmes LB, Gebuhr TC, BruneauBG, Schinzel A, Seidman JG, Seidman CE, Jorde LB (1997) Mutations in human TBX3 alter limb, apocrine, and genital development in ulnar-mammary syndrome. Nature Genetics 16:311-315.
PUBMED LINK
PMID: 9207801 [PubMed - indexedfor MEDLINE]
1996 - mtDNA variation in caste populations of Andhra Pradesh, India. Human Biology 68:1-28.
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9. Bamshad M, Fraley A,Crawford MH, Cann RL, Busi BR, Naidu JM, Jorde LB (1996) mtDNA variation in caste populations of Andhra Pradesh, India. Human Biology 1:1-28.
PUBMED LINK

PMID: 8907753 [PubMed - indexed for MEDLINE]
1996 - Clinical analysis of a large kindred with the Pallister-Ulnar-Mammary syndrome. American Journal of Medical Genetics 65:325-331.
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10. Bamshad M, Root S, Carey JC (1996) Clinical analysis of a large kindred with the Pallister-Ulnar-Mammary syndrome. American Journal of Medical Genetics 65:325-331.
PUBMED LINK
PMID: 8923944 [PubMed - indexedfor MEDLINE]
1996 - A revised and extended classification of the distal arthrogryposes. American Journal of Medical Genetics 65:277-281.
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11. Bamshad M, Jorde LB, Carey JC (1996) Arevised and extended classification of the distal arthrogryposes. American Journal of Medical Genetics 65:277-281.
PUBMED LINK
PMID: 8923935 [PubMed - indexedfor MEDLINE]
1996 - Distal arthrogryposis type 1: Clinical analysis of a large kindred. American Journal of Medical Genetics 65:282-285.
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12. Bamshad M, Bohnsack JF, Jorde LB, Carey JC(1996) Distal arthrogryposis type 1: Clinical analysis of a large kindred. American Journal of Medical Genetics 65:282-285.
PUBMED LINK
PMID: 8923936 [PubMed - indexed for MEDLINE]
1996 - Mitochondrial mismatch analysis is insensitive to the mutational process. Molecular Biological Evolution 13:895-902.
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13. Rogers AR, Fraley AE, Bamshad MJ, Watkins WS, Jorde LB (1996) Mitochondrial mismatch analysis is insensitive to the mutational process. Molecular Biological Evolution 13:895-902.
PUBMED LINK
PMID: 8751998 [PubMed - indexed for MEDLINE]
1996 - Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Nature Genetics 13:492-494.
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14. Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, Hall BD, Stevenson R, Orlow SJ, Cohen Jr. MM, Jabs EW (1996) Fibroblast growth factor receptor 2 mutations in Beare-Stevensoncutis gyrata syndrome. Nature Genetics 13:492-494.
PUBMED LINK
PMID: 8696350 [PubMed - indexed for MEDLINE]
1995 - Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic data. American Journal of Human Genetics 57:523-538.
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6. Jorde LB, Bamshad MJ,Watkins WS, Zenger R, Fraley A, Jenkins T, Soodyall H, Rogers, AR (1995) Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic data. American Journal of Human Genetics 57:523-538.
PUBMED LINK
PMID: 7668280 [PubMed - indexed for MEDLINE]
1995 - Population genetics of trinucleotide repeat polymorphisms. Human Molecular Genetics 4:1485-1491.
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7. Watkins WS, Bamshad MJ, Jorde LB (1995) Population genetics of trinucleotide repeat polymorphisms. Human Molecular Genetics4:1485-1491.
PUBMED LINK

PMID: 8541830 [PubMed - indexed for MEDLINE]
1995 - A gene for ulnar-mammary syndrome maps to 12q23-q24.1. Human Molecular Genetics 4:1973-1977.
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8. Bamshad M, Krakowiak PA, Watkins WS, Root S, Carey JC, Jorde LB (1995) A gene for ulnar-mammary syndrome maps to 12q23-q24.1. Human Molecular Genetics 4:1973-1977.
PUBMED LINK

PMID: 8595424 [PubMed - indexed for MEDLINE]
1994 - A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9. American Journal Human Genetics 55:1153-1158.
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4. Bamshad M, Watkins WS, Zenger RK, Bohnsack JF, Carey JC, Otterud B, Krakowiak PA, Robertson M, Jorde LB (1994) A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9. American Journal Human Genetics 55:1153-1158.
PUBMED LINK
PMID: 7977374 [PubMed - indexed for MEDLINE]
1994 - Biochemical heterozygosity and morphologic variation in a colony of Papio hamadryas hamadryas. Evolution 48:1211-1221.
[ More Info ]
5. Bamshad M, Crawford MH,O'Rourke D, Jorde LB (1994) Biochemical heterozygosity and morphologic variation in a colony of Papio hamadryas hamadryas. Evolution 48:1211-1221.
1991 - Of hominids, fossils, and cladists. American Journal of Physical Anthropology 85:353-5.
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3. Bamshad M, Comuzzie A (1991) Of hominids, fossils and cladists american. Journal of Physical Anthropology 85:353-356.
PUBMED LINK
PMID: 1897608 [PubMed - indexedfor MEDLINE]
1990 - Pediatric clonidine intoxications. Veterinary and Human Toxicology 32:220-223.
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2. Bamshad M, Wasserman G (1990) Pediatric clonidine intoxications. Veterinary and Human Toxicology 32:220-223.
PUBMED LINK
PMID: 2353431 [PubMed - indexedfor MEDLINE]
1989 - Acute upper airway obstruction in rheumatoid arthritis. Southern Medical Journal 82:507-510.
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1. Bamshad M, Rosa U, Padda G, Luce M (1989) Acute upper airway obstruction in rheumatoid arthritis. Southern Medical Journal82:507-510.
PUBMED LINK
PMID: 2705077 [PubMed - indexed for MEDLINE]

Reviews

in press - Race and the Impact of Genetic Variation on Health, LaRecherche
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AUTHORS: Bamshad M
9. Bamshad M (in press) Race and the Impact of Genetic Variation on Health, La Recherche
2005 - Genetic influences on Health: Does Race Matter? Journal of the American Medical Association 294:237-246.
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AUTHORS: Bamshad MJ
8.Bamshad MJ (2005) Genetic influences on Health: Does Race Matter? Journal of the American Medical Association 294:237-246.
PUBMED LINK
PMID: 16118384[PubMed - indexed for MEDLINE]
2004 - Deconstructing the relationship between genetics and race. Nature Reviews Genetics 5:598-608.
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AUTHORS: Bamshad MJ, Wooding S, Salisbury BA, Stephens JC.
7.Bamshad MJ, Wooding S, Salisbury BA, Stephens JC. (2004) Deconstructing the relationship between genetics and race. Nature Review Genetics 5:598-608.
PUBMED LINK
PMID: 15266342[PubMed - indexed for MEDLINE]
2003 - Signatures of natural selection in the human genome. Nature Reviews Genetics 4:99-111.
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AUTHORS: Bamshad M, Wooding S
5.Bamshad M, Wooding S (2003) Signatures of natural selection in the human genome. Nature Reviews Genetics 4:99-111.
PUBMED LINK
PMID: 12560807 [PubMed - indexed for MEDLINE]
2003 - Does Race Exist? Scientific American 289:78-85. (CoverArticle)
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AUTHORS: Bamshad M, Olson S
6.BamshadM, Olson S (2003) Does Race Exist? Scientific American 289:78-85. (Cover Article)
PUBMED LINK
PMID: 14631734 [PubMed - indexed for MEDLINE]
2001 - Population Genomics: A bridge from evolutionary history to genomic medicine. Human Molecular Genetics 10(20):2199-2207.
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AUTHORS: Jorde LB, Watkins WS, Bamshad M
4.JordeLB, Watkins WS, Bamshad M (2001) Population Genomics: A bridge from evolutionary history to genomic medicine. Human Molecular Genetics 10(20):2199-2207.
PUBMED LINK
PMID: 11673402 [PubMed - indexed for MEDLINE]
1999 - Getting a LEAD on EEC. American Journal of Medical Genetics 90:183-184.
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AUTHORS: Bamshad M, Jorde LB, Carey JC
3.Bamshad M, Jorde LB, Carey JC (1999) Getting a LEAD on EEC. American Journal of Medical Genetics 90:183-184.
PUBMED LINK
PMID: 10607964 [PubMed - indexed for MEDLINE]
1998 - Reconstructing the history of human limb development: lessons from birth defects. Pediatric Research 45:291-9.
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AUTHORS: Bamshad M, Watkins WS, Dixon ME, Le T, Roeder AD, Kramer BE, Carey JC, Jorde LB
2.Bamshad M, Watkins WS,Dixon ME, Le T, Roeder AD, Kramer BE, Carey JC, Jorde LB (1998) Reconstructing the history of human limb development: lessons from birth defects. Pediatric Research 45(3):291-299. (cover article)
PUBMED LINK
PMID: 10088644 [PubMed - indexed for MEDLINE]
1990 - More on human phylogeny and linguistic history. Current Anthropology 31(3):313-316.
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AUTHORS: Wiley EO, Comuzzie A, Bamshad M
1.Wiley EO, Comuzzie A, Bamshad M (1990) More on human phylogeny and linguistic history. Current Anthropology 31(3):313-316.

Books and Book Chapters

2008 - Syndromes caused by perturbation of TP63. The Molecular Basis of Inborn Errors of Development, 2nd edition, Oxford.
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AUTHORS: Bamshad M
12. Bamshad M (2006) Syndromes caused by perturbation of TP63. The Molecular Basis of Inborn Errors of Development, 2^nd edition, Oxford.
2007 - Medical Genetics, 3rd edition, (revised) Mosby.
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AUTHORS: Jorde LB, Carey JC, Bamshad M, White RW
11. Jorde LB, Carey JC, Bamshad M, White RW (2005) Medical Genetics, 3^rdedition, (revised) Mosby.
2004 - Presentation and Evaluation of Children with Genetic Disorders. Pediatrics, 1st edition, Elsevier-Mosby.
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AUTHORS: Bamshad M
6. Bamshad M (2004) Presentation and Evaluation of Children with Genetic Disorders. Comprehensive Pediatrics, 1st edition, Elsevier-Mosby.
2004 - Principles of Genetics. Pediatrics, 1st edition, Elsevier-Mosby.
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AUTHORS: Bamshad M
7. Bamshad M (2004) Principles of Genetics. Pediatrics, 1st edition, Elsevier-Mosby.
2003 - Syndromes caused by perturbation of TP63. The Molecular Basis of Inborn Errors of Development, Oxford.
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AUTHORS: Bamshad M
8. Bamshad M (2003) Syndromes caused by perturbation of TP63. The Molecular Basis of Inborn Errors of Development, Oxford.
2003 - Malformations caused by disruption of TBX3 and TBX5. The Molecular Basis of Inborn Errors of Development, Oxford.
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AUTHORS: Bamshad M and Jorde LB
9. Bamshad M and Jorde LB (2003) Malformations caused by disruption of TBX3 and TBX5. The Molecular Basis of Inborn Errors of Development,Oxford.
2003 - Medical Genetics, 3rd edition,Mosby.
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AUTHORS: Jorde LB, Carey JC, Bamshad M, White RW
10. Jorde LB, Carey JC, Bamshad M, White RW (2003) Medical Genetics, 3^rdedition, Mosby.
2001 - Clinical Genetics and Dysmorphology. Rudolph's Textbook of Pediatrics, 21st edition, McGrawHill.
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AUTHORS: Carey J and Bamshad M
4. Carey J and Bamshad M(2001) Clinical Genetics and Dysmorphology. Rudolph's Textbook of Pediatrics, 21^st edition, McGrawHill.

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AUTHORS: Jorde LB, Bamshad MJ, Watkins WS, Ricker CE, Dixon ME, Rao BB, Prasad BVR, Naidu JM
5. Jorde LB, Bamshad MJ, Watkins WS, Ricker CE, Dixon ME, Rao BB, Prasad BVR, Naidu JM (2001) Genetic structure of south Indian caste populations: a confluence of biology and culture. Cambridge.
2000 - Medical Genetics, 2nd edition (revised reprint), Mosby.
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AUTHORS: Jorde LB, Carey JC, Bamshad M, White RW
3. Jorde LB, Carey JC, Bamshad M, White RW (2000) Medical Genetics, 2^nd edition (revised reprint), Mosby.

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AUTHORS: Jorde LB and Bamshad M, Watkins WS, Dixon ME, Rao BB, Prasad BVR, Naidu JM.
2. Jorde LB and Bamshad M, Watkins WS, Dixon ME, Rao BB, Prasad BVR, Naidu JM. (1999) Genetic evolution in South Indian populations. Proceedings of NATO conference on Human Evolution.
1998 - T-box genes. Encyclopedia of Molecular Biology, Wiley.
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AUTHORS: Bamshad M, Watkins WS, Jorde LB
1. Bamshad M, Watkins WS, Jorde LB (1998) T-box genes. Encyclopedia of Molecular Biology, Wiley.

*indicates co-first authors