Michael J Bamshad, MD

Michael J Bamshad, MD

Clinical Genetics, Biochemical Genetics

On staff since January 2006

Children's Title: Division Chief

Academic Title: Professor

Foundation Title: Allan and Phyllis Treuer Endowed Chair in Genetics and Development

Research Center: Center for Clinical and Translational Research

  • Biography

    Michael J. Bamshad, MD, is professor in the Department of Pediatrics and adjunct professor of genome sciences at the University of Washington. His laboratory addresses the origins and affinities of humans, develops novel strategies to find disease susceptibility variants and characterizes genetic variants influencing risk for an assortment of health-related conditions.

     Bamshad is particularly interested in identifying genetic variants that cause birth defects that alter risk for chronic diseases of childhood, infections and preterm birth, and that influence chemosensory perception such as taste.  His laboratory has identified genetic variants that underlie several disorders manifested by either limb defects or heart defects.  Bamshad’s lab has recently discovered that mutations in several genes (e.g., TNNI2, TNNT3, TPM2, MYH3) that encode proteins of the contractile apparatus of fast-twitch myofibers cause several syndromes characterized by contractures of the feet such as clubfoot.  Researchers in his lab are now trying both to understand the mechanism by which these mutations disrupt muscle function and also to determine whether these genes influence susceptibility to idiopathic clubfoot.

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  • Awards and Honors

    Award Name Award Description Awarded By Award Date
    Allan and Phyliss Treuer Endowed Chair in Genetics and Development 2012
    Bea Fowlow Award in Medical Genetics University of Calgary 2011

  • Publications

    Other Publications

    • Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC, University of Washington Center for Mendelian Genomics, Matthijs G, Freeze HH
      ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
      26931382 Human mutation, 2016 Mar 2
    • Santos-Cortez RL, Faridi R, Rehman AU, Lee K, Ansar M, Wang X, Morell RJ, Isaacson R, Belyantseva IA, Dai H, Acharya A, Qaiser TA, Muhammad D, Ali RA, Shams S, Hassan MJ, Shahzad S, Raza SI, Bashir ZE, Smith JD, Nickerson DA, Bamshad MJ, University of Washington Center for Mendelian Genomics, Riazuddin S, Ahmad W, Friedman TB, Leal SM
      Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.
      26805784 American journal of human genetics, 2016 Feb 4 : 98(2)331-8 PMCID:PMC4746333
    • Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, López-Giráldez F, Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA, Centers for Mendelian Genomics, Bamshad MJ
      The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
      26166479 American journal of human genetics, 2015 Aug 6 : 97(2)199-215 PMCID:PMC4573249
    • Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJ, Klein Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Stevens CA, Carey JC, Monteil A, Lory P, Tabor HK, Smith JD, Shendure J, Nickerson DA, University of Washington Center for Mendelian Genomics, Bamshad MJ
      De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
      25683120 American journal of human genetics, 2015 Mar 5 : 96(3)462-73 PMCID:PMC4375444
    • Beck AE, McMillin MJ, Gildersleeve HI, Shively KM, Tang A, Bamshad MJ
      Genotype-phenotype relationships in Freeman-Sheldon syndrome.
      25256237 American journal of medical genetics. Part A, 2014 Nov. : 164A(11)2808-13
    • Bigham AW, Mackelprang RD, Celum C, De Bruyn G, Beima-Sofie K, John-Stewart G, Ronald A, Mugo NR, Buckingham K, Bamshad MJ, Mullins JI, McElrath MJ, Lingappa JR
      Variants in host viral replication cycle genes are associated with heterosexual HIV-1 acquisition in Africans.
      24463784 Journal of acquired immune deficiency syndromes (1999), 2014 Jun 1 : 66(2)127-34 PMCID:PMC4025588
    • Racca AW, Beck AE, Rao VS, Flint GV, Lundy SD, Born DE, Bamshad MJ, Regnier M
      Contractility and kinetics of human fetal and human adult skeletal muscle.
      23629510 The Journal of physiology, 2013 Jun 15 : 591(12)3049-61 PMCID:PMC3832119
    • Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, Hazucha MJ, Yin W, Berg JS, Davis SD, Dell SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla CE, Olivier KN, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Shendure J, Zariwala MA, Genetic Disorders of Mucociliary Clearance Consortium
      Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
      23261302 American journal of human genetics, 2013 Jan 10 : 92(1)99-106 PMCID:PMC3542458
    • Bamshad MJ, Shendure JA, Valle D, Hamosh A, Lupski JR, Gibbs RA, Boerwinkle E, Lifton RP, Gerstein M, Gunel M, Mane S, Nickerson DA, Centers for Mendelian Genomics
      The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.
      22628075 American journal of medical genetics. Part A, 2012 July : 158A(7)1523-5 PMCID:PMC3702263
    • Nelsen LM, Shields KE, Cunningham ML, Stoler JM, Bamshad MJ, Eng PM, Smugar SS, Gould AL, Philip G
      Congenital malformations among infants born to women receiving montelukast, inhaled corticosteroids, and other asthma medications.
      22000568 The Journal of allergy and clinical immunology, 2012 Jan. : 251-4.e1-6
    • Tabor HK, Berkman BE, Hull SC, Bamshad MJ
      Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research.
      22038764 American journal of medical genetics. Part A, 2011 Dec. : 155A(12)2916-24
    • Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J
      Exome sequencing as a tool for Mendelian disease gene discovery.
      21946919 Nature reviews. Genetics, 2011 Sep 27 : 745-55
    • Tennessen JA, O'Connor TD, Bamshad MJ, Akey JM
      The promise and limitations of population exomics for human evolution studies.
      21920050 Genome biology, 2011 Sep 14 : 127
    • Weymouth KS, Blanton SH, Bamshad MJ, Beck AE, Alvarez C, Richards S, Gurnett CA, Dobbs MB, Barnes D, Mitchell LE, Hecht JT
      Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot.
      21834041 American journal of medical genetics. Part A, 2011 Sept. : 2170-9 PMCID:PMC3158831
    • Rödelsperger C, Krawitz P, Bauer S, Hecht J, Bigham AW, Bamshad M, de Condor BJ, Schweiger MR, Robinson PN
      Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders.
      21278187 Bioinformatics (Oxford, England), 2011 Mar 15 : 829-36 PMCID:PMC3051326
    • Bigham AW, Buckingham KJ, Husain S, Emond MJ, Bofferding KM, Gildersleeve H, Rutherford A, Astakhova NM, Perelygin AA, Busch MP, Murray KO, Sejvar JJ, Green S, Kriesel J, Brinton MA, Bamshad M
      Host genetic risk factors for West Nile virus infection and disease progression.
      21935451 PloS one, 2011 : e24745 PMCID:PMC3174177
    • Michael J. Bamshad, MD, Carey J and Bamshad M
      Clinical Genetics and Dysmorphology in Rudolph's Textbook of Pediatrics, 22st edition, McGraw Hill
      2011
    • Ng SB, Nickerson DA, Bamshad MJ, Shendure J
      Massively parallel sequencing and rare disease.
      20846941 Human molecular genetics, 2010 Oct 15 : R119-24 PMCID:PMC2953741
    • Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J
      Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
      20711175 Nature genetics, 2010 Sept. : 790-3 PMCID:PMC2930028
    • Illeperuma RJ, Markalanda D, Mountain JL, Ratnasooriya WD, Fernandopulle ND, Bamshad MJ
      Haplotype data for 12 Y-chromosome STR loci of Sri Lankans.
      20457052 Forensic science international. Genetics, 2010 July : e119-20
    • Royal CD, Novembre J, Fullerton SM, Goldstein DB, Long JC, Bamshad MJ, Clark AG
      Inferring genetic ancestry: opportunities, challenges, and implications.
      20466090 American journal of human genetics, 2010 May 14 : 86(5)661-73 PMCID:PMC2869013
    • Royal CD, Novembre J, Fullerton SM, Goldstein DB, Long JC, Bamshad MJ, Clark AG
      Inferring genetic ancestry: opportunities, challenges, and implications.
      20466090 American journal of human genetics, 2010 May 14 : 661-73
    • Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ
      Analysis of genetic inheritance in a family quartet by whole-genome sequencing.
      20220176 Science (New York, N.Y.), 2010 Apr 30 : 636-9 PMCID:PMC3037280
    • Cooper GM, Goode DL, Ng SB, Sidow A, Bamshad MJ, Shendure J, Nickerson DA
      Single-nucleotide evolutionary constraint scores highlight disease-causing mutations.
      20354513 Nature methods, 2010 April : 250-1
    • Cooper GM, Goode DL, Ng SB, Sidow A, Bamshad MJ, Shendure J, Nickerson DA
      Single-nucleotide evolutionary constraint scores highlight disease-causing mutations.
      20354513 Nature methods, 2010 April : 250-1 PMCID:PMC3145250
    • Xing J, Watkins WS, Hu Y, Huff CD, Sabo A, Muzny DM, Bamshad MJ, Gibbs RA, Jorde LB, Yu F
      Genetic diversity in India and the inference of Eurasian population expansion.
      21106085 Genome biology, 2010 : R113 PMCID:PMC3156952
    • Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ
      Exome sequencing identifies the cause of a mendelian disorder.
      19915526 Nature genetics, 2010 Jan. : 30-5 PMCID:PMC2847889
    • Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ
      Exome sequencing identifies the cause of a mendelian disorder.
      19915526 Nature genetics, 2010 Jan. : 30-5
    • Michael J. Bamshad, MD, Jorde LB, Carey JC, Bamshad M
      Medical Genetics, 4th edition
      2010
    • He W, Kulkarni H, Castiblanco J, Shimizu C, Aluyen U, Maldonado R, Carrillo A, Griffin M, Lipsitt A, Beachy L, Shostakovich-Koretskaya L, Mangano A, Sen L, Nibbs RJ, Tiemessen CT, Bolivar H, Bamshad MJ, Clark RA, Burns JC, Dolan MJ, Ahuja SK
      Reply to: "Experimental aspects of copy number variant assays at CCL3L1".
      19812563 Nature medicine, 2009 Oct. : 1117-20
    • Toydemir RM, Bamshad MJ
      Sheldon-Hall syndrome.
      19309503 Orphanet journal of rare diseases, 2009 Mar 23 : 11
    • 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.
      18576317 Arthritis and rheumatism, 2008 July : 2147-52
    • Borozdin W, Graham JM Jr, Böhm D, Bamshad MJ, Spranger S, Burke L, Leipoldt M, Kohlhase J
      Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay.
      17623483 Human mutation, 2007 Aug. : 830
    • Williams MS, Elliott CG, Bamshad MJ
      Pulmonary disease is a component of distal arthrogryposis type 5.
      17345626 American journal of medical genetics. Part A, 2007 Apr 1 : 143A(7)752-6
    • Williams MS, Elliott CG, Bamshad MJ
      Pulmonary disease is a component of distal arthrogryposis type 5.
      17345626 American journal of medical genetics. Part A, 2007 Apr 1 : 752-6
    • 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.
      17041932 American journal of medical genetics. Part A, 2006 Nov 15 : 2387-93
    • Bleyl SB, Botto LD, Carey JC, Young LT, Bamshad MJ, Leppert MF, Ward K
      Analysis of a Scottish founder effect narrows the TAPVR-1 gene interval to chromosome 4q12.
      17036341 American journal of medical genetics. Part A, 2006 Nov 1 : 2368-73
    • 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.
      17033969 American journal of human genetics, 2006 Nov. : 935-41
    • Borozdin W, Bravo-Ferrer Acosta AM, Seemanova E, Leipoldt M, Bamshad MJ, Unger S, Kohlhase J
      Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes.
      16892408 American journal of medical genetics. Part A, 2006 Sep 1 : 1880-6
    • 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
      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.
      16917909 Human mutation, 2006 Sept. : 975-6
    • Everman DB, Morgan CT, Lyle R, Laughridge ME, Bamshad MJ, Clarkson KB, Colby R, Gurrieri F, Innes AM, Roberson J, Schrander-Stumpel C, van Bokhoven H, Antonarakis SE, Schwartz CE
      Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.
      16761290 American journal of medical genetics. Part A, 2006 Jul 1 : 1375-83
    • 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.
      16642020 Nature genetics, 2006 May : 561-5
    • Wooding S, Bufe B, Grassi C, Howard MT, Stone AC, Vazquez M, Dunn DM, Meyerhof W, Weiss RB, Bamshad MJ
      Independent evolution of bitter-taste sensitivity in humans and chimpanzees.
      16612383 Nature, 2006 Apr 13 : 440(7086)930-4
    • Wooding S, Bufe B, Grassi C, Howard MT, Stone AC, Vazquez M, Dunn DM, Meyerhof W, Weiss RB, Bamshad MJ
      Independent evolution of bitter-taste sensitivity in humans and chimpanzees.
      16612383 Nature, 2006 Apr 13 : 930-4
    • Stevenson DA, Carey JC, Palumbos J, Rutherford A, Dolcourt J, Bamshad MJ
      Clinical characteristics and natural history of Freeman-Sheldon syndrome.
      16510655 Pediatrics, 2006 March : 754-62
    • 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.
      16004724 Human genomics, 2005 June : 81-9
    • Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG
      Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
      15739154 American journal of human genetics, 2005 April : 609-22
    • Gonzalez E, Kulkarni H, Bolivar H, Mangano A, Sanchez R, Catano G, Nibbs RJ, Freedman BI, 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
      The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility.
      15637236 Science (New York, N.Y.), 2005 Mar 4 : 1434-40
    • 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.
      15625621 American journal of human genetics, 2005 Feb. : 291-301
    • Prahalad S, O'brien E, Fraser AM, Kerber RA, Mineau GP, Pratt D, Donaldson D, Bamshad MJ, Bohnsack J
      Familial aggregation of juvenile idiopathic arthritis.
      15593218 Arthritis and rheumatism, 2004 Dec. : 4022-7
    • 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
      Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
      15146186 Nature genetics, 2004 June : 631-5
    • Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T
      NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.
      15146185 Nature genetics, 2004 June : 636-41
    • Wooding S, Kim UK, Bamshad MJ, Larsen J, Jorde LB, Drayna D
      Natural selection and molecular evolution in PTC, a bitter-taste receptor gene.
      14997422 American journal of human genetics, 2004 April : 637-46
    • Wooding S, Kim UK, Bamshad MJ, Larsen J, Jorde LB, Drayna D
      Natural selection and molecular evolution in PTC, a bitter-taste receptor gene.
      14997422 American journal of human genetics, 2004 April : 74(4)637-46 PMCID:PMC1181941
    • Bamshad MJ, Olson SE
      Does race exist?
      14631734 Scientific American, 2003 Dec. : 78-85
    • 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.
      14604797 Gene, 2003 Oct 23 : 103-10
    • 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
      A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.
      12913067 Human molecular genetics, 2003 Aug 15 : 1959-71
    • 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.
      12789647 American journal of human genetics, 2003 July : 74-85
    • 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.
      12805277 Genome research, 2003 July : 1607-18
    • Bamshad MJ, Wooding S, Watkins WS, Ostler CT, Batzer MA, Jorde LB
      Human population genetic structure and inference of group membership.
      12557124 American journal of human genetics, 2003 March : 578-89
    • Gonzalez E, Rovin BH, Sen L, Cooke G, Dhanda R, Mummidi S, Kulkarni H, Bamshad MJ, Telles V, Anderson SA, Walter EA, Stephan KT, Deucher M, Mangano A, Bologna R, Ahuja SS, Dolan MJ, Ahuja SK
      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.
      12374865 Proceedings of the National Academy of Sciences of the United States of America, 2002 Oct 15 : 13795-800
    • 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.
      12149450 Proceedings of the National Academy of Sciences of the United States of America, 2002 Aug 6 : 10539-44

  • Presentations

    Presentation Title Event Location Date
    Exome sequencing as a tool for gene discovery Manton Center for Orphan Disease Research Harvard Medical School, Boston MA 2011
    Exome sequencing as a tool for gene discovery Canadian Human Genetics Conference, Banff, Canada 2011
    Exome sequencing as a tool for gene discovery New England Regional Genetics Group Regional Genetics Counseling Conference Boston, MA 2011
    Mendelian Genetics by exome sequencing Annual Human and Molecular Genetics Symposium, The University of Texas Graduate School of Biomedical Sciences at Houston, Houston, TX 2010
    Mendelian Genetics by exome sequencing Australian Health and Medical Research Congress, Melbourne, Australia 2010
    Exome sequencing brings the genome to the clinic Association of Medical School Pediatric Department Chairs, Inc./Frontiers in Science/Pediatric Scientist Development Program Annual Meeting, Tampa Bay, FL 2010
    Discovery of a gene for kabuki syndrome by exome sequencing and genotype-phenotype relationship in 110 cases 55th Annual Meeting of the Japanese Society of Human Genetics, Omiya Sonic City, Japan 2010
    Race, ancestry, and genomics The Evolution of Human Biodiversity, The Salk Institute, La Jolla, CA 2010
    Distal arthrogryposis: genetic and molecular basis Australian Health and Medical Research Congress, Melbourne, Australia 2010

  • Research Funding

    Grant Title Grantor Amount Award Date
    Genome Analysis of EPIC Cohort CFF May 1, 2014 - Apr 30, 2016
    Complete Genome Variation in Africans with Extreme HIV-1 Transmission Phenotypes NIH Jul 1, 2011 - Jun 30, 2016
    Genetic and Moledular Basis of Congenital Contractures NIH/NICHD Feb 1, 2005 - Jun 30, 2017

Overview

Board Certification(s)

Clinical Genetics and Genomics (MD)

Medical/Professional School

University of Kansas at Lawrence, Lawrence, KS
University of Missouri School of Medicine-Kansas City, Kansas City, MO

Residency

University of Utah Medical Center, Salt Lake City, UT

Fellowship

University of Utah School of Medicine, Salt Lake City, UT

Clinical Interests

Genetic analysis of birth defects, especially limb and heart malformation disorders; genetic analysis of susceptibility to autoimmune disorders and infectious disease as well as human evolutionary biology.

Research Description

My laboratory addresses the origins and affinities of humans, develops novel strategies to find disease susceptibility variants and characterizes genetic variants influencing risk for an assortment of health-related conditions. I am particularly interested in identifying genetic variants that cause birth defects that alter risk for chronic diseases of childhood, infections and preterm birth, and that influence chemosensory perception such as taste.

My laboratory has identified genetic variants that underlie several disorders manifested by either limb defects or heart defects. My lab recently discovered that mutations in several genes (e.g., TNNI2, TNNT3, TPM2, MYH3) that encode proteins of the contractile apparatus of fast-twitch myofibers cause several syndromes characterized by contractures of the feet such as clubfoot.

Researchers in my lab are now trying both to understand the mechanism by which these mutations disrupt muscle function and also to determine whether these genes influence susceptibility to idiopathic clubfoot. Additionally, the development of a DNA core repository for future population studies is ongoing.

Research Focus Area

Genetics and Developmental Biology, Translational Research