Snyder MW, Simmons LE, Kitzman JO, Coe BP, Henson JM, Daza RM, Eichler EE, Shendure J, Gammill HS. (2015). Copy-number variation and false positive prenatal aneuploidy screening results. N Engl J Med Apr 23;372(17):1639-45.
Blog Archives
MIPSTR: a method for multiplex genotyping of germline and somatic STR variation across many individuals
Carlson KD, Sudmant PH, Press MO, Eichler EE, Shendure J, Queitsch C. (2015). MIPSTR: a method for multiplex genotyping of germline and somatic STR variation across many individuals. Genome Res May;25(5):750-61.
Epigenetics of autism-related impairment: Copy number variation and maternal infection
Mazina V, Gerdts J, Trinh S, Ankenman K, Ward T, Dennis MY, Girirajan S, Eichler EE, Bernier R. (2015). Epigenetics of autism-related impairment: Copy number variation and maternal infection. J Dev Behav Pediatr Feb-Mar;36(2):61-7.
Genome-wide association study and admixture mapping reveal new loci associated with total IgE levels in Latinos
Pino-Yanes M, Gignoux CR, Galanter JM, Levin AM, Campbell CD, Eng C, Huntsman S, Nishimura KK, Gourraud PA, Mohajeri K, O’Roak BJ, Hu D, Mathias RA, Nguyen EA, Roth LA, Padhukasahasram B, Moreno-Estrada A, Sandoval K, Winkler CA, Lurmann F, Davis A, Farber HJ, Meade K, Avila PC, Serebrisky D, Chapela R, Ford JG, Lenoir MA, Thyne SM, Brigino-Buenaventura E, Borrell LN, Rodriguez-Cintron W, Sen S, Kumar R, Rodriguez-Santana JR, Bustamante CD, Martinez FD, Raby BA, Weiss ST, Nicolae DL, Ober C, Meyers DA, Bleecker ER, Mack SJ, Hernandez RD, Eichler EE, Barnes KC, Williams LK, Torgerson DG, Burchard EG. (2015). Genome-wide association study and admixture mapping reveal new loci associated with total IgE levels in Latinos. J Allergy Clin Immunol Jun;135(6):1502-10. Epub 2014 Dec 6.
The discovery of integrated gene networks for autism and related disorders
Hormozdiari F, Penn O, Borenstein E, Eichler EE. (2015). The discovery of integrated gene networks for autism and related disorders. Genome Res Jan;25(1):142-54. Epub 2014 Nov 5.
Resolving the complexity of the human genome using single-molecule sequencing
Chaisson MJ, Huddleston J, Dennis MY, Sudmant PH, Malig M, Hormozdiari F, Antonacci F, Surti U, Sandstrom R, Boitano M, Landolin JM, Stamatoyannopoulos JA, Hunkapiller MW, Korlach J, Eichler EE. (2015). Resolving the complexity of the human genome using single-molecule sequencing. Nature Jan 29;517(7536):608-11. doi: 10.1038/nature13907. Epub 2014 Nov 10.
Sequencing of the human IG light chain loci from a hydatidiform mole BAC library reveals locus-specific signatures of genetic diversity
Watson CT, Steinberg KM, Graves TA, Warren RL, Malig M, Schein J, Wilson RK, Holt RA, Eichler EE, Breden F. (2015). Sequencing of the human IG light chain loci from a hydatidiform mole BAC library reveals locus-specific signatures of genetic diversity. Genes Immun Jan-Feb;16(1):24-34. Epub 2014 Oct 23.
Refinement of the critical 2p25
De Rocker N, Vergult S, Koolen D, Jacobs E, Hoischen A, Zeesman S, Bang B, Bena F, Bockaert N, Bongers EM, de Ravel T, Devriendt K, Giglio S, Faivre L, Joss S, Maas S, Marle N, Novara F, Nowaczyk MJ, Peeters H, Polstra A, Roelens F, Rosenberg C, Thevenon J, Tumer Z, Vanhauwaert S, Varvagiannis K, Willaert A, Willemsen M, Willems M, Zuffardi O, Coucke P, Speleman F, Eichler EE, Kleefstra T, Menten B. (2015). Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity. Genet Med Jun;17(6):460.466. Epub 2014 Sep 18.