Center-Authored Papers

Filters: Author is Eichler, Evan E  [Clear All Filters]
2009
De Bustos C, Ramos E, Young JM, Tran RK, Menzel U, Langford CF, Eichler EE, Hsu L, Henikoff S, Dumanski JP et al..  2009.  Tissue-specific variation in DNA methylation levels along human chromosome 1.. Epigenetics & chromatin. 2(1):7. Abstract
2011
Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V et al..  2011.  A copy number variation morbidity map of developmental delay.. Nature genetics. 43(9):838-46. Abstract
2012
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
2014
Vulto-van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, de Rocker N, Newhall KJ, Raghavan R, Reardon SN, Jarrett K, McIntyre T et al..  2014.  Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems.. American journal of human genetics. Abstract
Steinberg KM, Schneider VA, Graves-Lindsay TA, Fulton RS, Agarwala R, Huddleston J, Shiryev SA, Morgulis A, Surti U, Warren WC et al..  2014.  Single haplotype assembly of the human genome from a hydatidiform mole.. Genome research. 24(12):2066-76. Abstract
Pino-Yanes M, Gignoux CR, Galanter JM, Levin AM, Campbell CD, Eng C, Huntsman S, Nishimura KK, Gourraud P-A, Mohajeri K et al..  2014.  Genome-wide association study and admixture mapping reveal new loci associated with total IgE levels in Latinos.. The Journal of allergy and clinical immunology. Abstract
Krumm N, O'Roak BJ, Shendure J, Eichler EE.  2014.  A de novo convergence of autism genetics and molecular neuroscience.. Trends in neurosciences. 37(2):95-105. Abstract
Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JHM, Marcelis CL, Willemsen MH, Vissers LELM et al..  2014.  A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.. Nature genetics. Abstract
Huddleston J, Ranade S, Malig M, Antonacci F, Chaisson M, Hon L, Sudmant PH, Graves TA, Alkan C, Dennis MY et al..  2014.  Reconstructing complex regions of genomes using long-read sequencing technology.. Genome research. Abstract
Stessman HA, Bernier R, Eichler EE.  2014.  A genotype-first approach to defining the subtypes of a complex disease.. Cell. 156(5):872-7. Abstract
Prüfer K, Racimo F, Patterson N, Jay F, Sankararaman S, Sawyer S, Heinze A, Renaud G, Sudmant PH, de Filippo C et al..  2014.  The complete genome sequence of a Neanderthal from the Altai Mountains.. Nature. 505(7481):43-9. Abstract
He Z, O'Roak BJ, Smith JD, Wang G, Hooker S, Santos-Cortez RLP, Li B, Kan M, Krumm N, Nickerson DA et al..  2014.  Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data.. American journal of human genetics. 94(1):33-46. Abstract
Morris DW, Pearson RD, Cormican P, Kenny EM, O'Dushlaine CT, Lemieux Perreault L-P, Giannoulatou E, Tropea D, Maher BS, Wormley B et al..  2014.  An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.. Human molecular genetics. Abstract
Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT et al..  2014.  Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development.. Cell. Abstract
Hoischen A, Krumm N, Eichler EE.  2014.  Prioritization of neurodevelopmental disease genes by discovery of new mutations.. Nature neuroscience. 17(6):764-72. Abstract
Nuttle X, Itsara A, Shendure J, Eichler EE.  2014.  Resolving genomic disorder-associated breakpoints within segmental DNA duplications using massively parallel sequencing.. Nature protocols. 9(6):1496-513. Abstract
Stong N, Deng Z, Gupta R, Hu S, Paul S, Weiner AK, Eichler EE, Graves T, Fronick CC, Courtney L et al..  2014.  Subtelomeric CTCF and cohesin binding site organization using improved subtelomere assemblies and a novel annotation pipeline.. Genome research. Abstract
Falchi M, El-Sayed Moustafa JS, Takousis P, Pesce F, Bonnefond A, Andersson-Assarsson JC, Sudmant PH, Dorajoo R, Al-Shafai MN, Bottolo L et al..  2014.  Low copy number of the salivary amylase gene predisposes to obesity.. Nature genetics. Abstract
Eichler EE.  2014.  2013 william allan award introduction: aravinda chakravarti.. American journal of human genetics. 94(3):324-5.
Jacquemont S, Coe BP, Hersch M, Duyzend MH, Krumm N, Bergmann S, Beckmann JS, Rosenfeld JA, Eichler EE.  2014.  A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.. American journal of human genetics. 94(3):415-25. Abstract
Hach F, Sarrafi I, Hormozdiari F, Alkan C, Eichler EE, Sahinalp CS.  2014.  mrsFAST-Ultra: a compact, SNP-aware mapper for high performance sequencing applications.. Nucleic acids research. Abstract
Yue F, Cheng Y, Breschi A, Vierstra J, Wu W, Ryba T, Sandstrom R, Ma Z, Davis C, Pope BD et al..  2014.  A comparative encyclopedia of DNA elements in the mouse genome.. Nature. 515(7527):355-64. Abstract
Vierstra J, Rynes E, Sandstrom R, Zhang M, Canfield T, Hansen SR, Stehling-Sun S, Sabo PJ, Byron R, Humbert R et al..  2014.  Mouse regulatory DNA landscapes reveal global principles of cis-regulatory evolution.. Science (New York, N.Y.). 346(6212):1007-12. Abstract
2015
Xue Y, Prado-Martinez J, Sudmant PH, Narasimhan V, Ayub Q, Szpak M, Frandsen P, Chen Y, Yngvadottir B, Cooper DN et al..  2015.  Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding.. Science (New York, N.Y.). 348(6231):242-5. Abstract
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.. The New England journal of medicine. 372(17):1639-45. Abstract