Center-Authored Papers

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Journal Article
Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS et al..  2015.  Actionable exomic incidental findings in 6503 participants: challenges of variant classification.. Genome research. 25(3):305-15. Abstract
Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT et al..  2013.  Actionable, pathogenic incidental findings in 1,000 participants' exomes.. American journal of human genetics. 93(4):631-40. Abstract
Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M et al..  2015.  Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.. American journal of human genetics. 96(5):841-9. Abstract
Rehman AU, Santos-Cortez RLP, Drummond MC, Shahzad M, Lee K, Morell RJ, Ansar M, Jan A, Wang X, Aziz A et al..  2014.  Challenges and solutions for gene identification in the presence of familial locus heterogeneity.. European journal of human genetics : EJHG. Abstract
Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN et al..  2015.  De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.. American journal of human genetics. 96(3):462-73. Abstract
Lemmers RJLF, Tawil R, Petek LM, Balog J, Block GJ, Santen GWE, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR et al..  2012.  Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.. Nature genetics. 44(12):1370-4. Abstract
Do R, Stitziel NO, Won H-H, Jørgensen AB, Duga S, Merlini PA, Kiezun A, Farrall M, Goel A, Zuk O et al..  2015.  Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.. Nature. 518(7537):102-6. Abstract
Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ, Wong JTS, Monteiro FP et al..  2015.  Expanding the Molecular and Clinical Phenotype of SSR4-CDG.. Human mutation. Abstract
Ansar M, Jan A, Santos-Cortez RLP, Wang X, Suliman M, Acharya A, Habib R, Abbe I, Ali G, Lee K et al..  2015.  Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability.. European journal of human genetics : EJHG. Abstract
Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T et al..  2015.  The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.. American journal of human genetics. Abstract
Auer PL, Reiner AP, Wang G, Kang HM, Abecasis GR, Altshuler D, Bamshad MJ, Nickerson DA, Tracy RP, Rich SS et al..  2016.  Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project.. American journal of human genetics. Abstract
Guo D-chuan, Gong L, Regalado ES, Santos-Cortez RL, Zhao R, Cai B, Veeraraghavan S, Prakash SK, Johnson RJ, Muilenburg A et al..  2015.  MAT2A mutations predispose individuals to thoracic aortic aneurysms.. American journal of human genetics. 96(1):170-7. Abstract
Ansar M, Santos-Cortez RLP, Saqib MAN, Zulfiqar F, Lee K, Ashraf NM, Ullah E, Wang X, Sajid S, Khan FS et al..  2015.  Mutation of ATF6 causes autosomal recessive achromatopsia.. Human genetics. Abstract
McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HIS, Aracena MI, Aylsworth AS, Bitoun P, Carey JC et al..  2014.  Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5.. American journal of human genetics. Abstract
Knowles MR, Ostrowski LE, Leigh MW, Sears PR, Davis SD, Wolf WE, Hazucha MJ, Carson JL, Olivier KN, Sagel SD et al..  2014.  Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype.. American journal of respiratory and critical care medicine. Abstract
Shinsky SA, Hu M, Vought VE, Ng SB, Bamshad MJ, Shendure J, Cosgrove MS.  2014.  A non-active site SET domain surface crucial for the interaction of MLL1 and the RbBP5-ASH2L heterodimer within MLL family core complexes.. Journal of molecular biology. Abstract
Kitzman JO, Snyder MW, Ventura M, Lewis AP, Qiu R, Simmons LE, Gammill HS, Rubens CE, Santillan DA, Murray JC et al..  2012.  Noninvasive whole-genome sequencing of a human fetus.. Science translational medicine. 4(137):137ra76. Abstract
Tabor HK, Auer PL, Jamal SM, Chong JX, Yu J-H, Gordon AS, Graubert TA, O'Donnell CJ, Rich SS, Nickerson DA et al..  2014.  Pathogenic variants for mendelian and complex traits in exomes of 6,517 European and african americans: implications for the return of incidental results.. American journal of human genetics. 95(2):183-93. Abstract
Gordon AS, Tabor HK, Johnson AD, Snively BM, Assimes TL, Auer PL, Ioannidis JPA, Peters U, Robinson JG, Sucheston LE et al..  2013.  Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset.. Human molecular genetics. Abstract
Santos-Cortez RLP, Chiong CM, Reyes-Quintos MRT, Tantoco MLC, Wang X, Acharya A, Abbe I, Giese AP, Smith JD, Allen KE et al..  2015.  Rare A2ML1 variants confer susceptibility to otitis media.. Nature genetics. Abstract
Kan M, Auer PL, Wang GT, Bucasas KL, Hooker S, Rodriguez A, Li B, Ellis J, Adrienne Cupples L, Chen Y-DI et al..  2016.  Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project.. European journal of human genetics : EJHG. 24(8):1181-1187. Abstract
O'Connor TD, Fu W, Mychaleckyj JC, Logsdon B, Auer P, Carlson CS, Leal SM, Smith JD, Rieder MJ, Bamshad MJ et al..  2015.  Rare variation facilitates inferences of fine-scale population structure in humans.. Molecular biology and evolution. 32(3):653-60. Abstract
Mackelprang RD, Bigham AW, Celum C, de Bruyn G, Beima-Sofie K, John-Stewart G, Ronald A, Mugo NR, Buckingham KJ, Bamshad MJ et al..  2014.  Toll-like Receptor Polymorphism Associations With HIV-1 Outcomes Among Sub-Saharan Africans.. The Journal of infectious diseases. Abstract
Beima-Sofie KM, Bigham AW, Lingappa JR, Wamalwa D, Mackelprang RD, Bamshad MJ, Maleche-Obimbo E, Richardson BA, John-Stewart GC.  2013.  Toll-like receptor variants are associated with infant HIV-1 acquisition and peak plasma HIV-1 RNA level.. AIDS (London, England). 27(15):2431-9. Abstract