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Results 1 to 25 of 33

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Quality and completeness of SNP databasesREICH, David E; GABRIEL, Stacey B; ALTSHULER, David et al.Nature genetics. 2003, Vol 33, Num 4, pp 457-458, issn 1061-4036, 2 p.Article

MILD PAROXYSMAL KINESIGENIC DYSKINESIA CAUSED BY PRRT2 MISSENSE MUTATION WITH REDUCED PENETRANCEFRIEDMAN, Jennifer; OLVERA, Jesus; SILHAVY, Jennifer L et al.Neurology. 2012, Vol 79, Num 9, pp 946-948, issn 0028-3878, 3 p.Article

Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg SyndromeCHIARA MANZINI, M; TAMBUNAN, Dimira E; RODRIGUEZ, Jacqueline et al.American journal of human genetics. 2012, Vol 91, Num 3, pp 541-547, issn 0002-9297, 7 p.Article

A framework for variation discovery and genotyping using next-generation DNA sequencing dataDEPRISTO, Mark A; BANKS, Eric; MCKENNA, Aaron et al.Nature genetics. 2011, Vol 43, Num 5, pp 491-498, issn 1061-4036, 8 p.Article

Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study CohortsBICK, Alexander G; FLANNICK, Jason; FUNKE, Birgit H et al.American journal of human genetics. 2012, Vol 91, Num 3, pp 513-519, issn 0002-9297, 7 p.Article

Sequence analysis of mutations and translocations across breast cancer subtypesBANERJI, Shantanu; CIBULSKIS, Kristian; CORTES, Maria L et al.Nature (London). 2012, Vol 486, Num 7403, pp 405-409, issn 0028-0836, 5 p.Article

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiencyCALVO, Sarah E; TUCKER, Elena J; REDMAN, Michelle C et al.Nature genetics. 2010, Vol 42, Num 10, pp 851-858, issn 1061-4036, 8 p.Article

Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy LocusJEONG HO LEE; SILHAVY, Jennifer L; GABRIEL, Stacey B et al.Science (Washington, D.C.). 2012, Vol 335, Num 6071, pp 966-969, issn 0036-8075, 4 p.Article

Melanoma genome sequencing reveals frequent PREX2 mutationsBERGER, Michael F; HODIS, Eran; HAILEI ZHANG et al.Nature (London). 2012, Vol 485, Num 7399, pp 502-506, issn 0028-0836, 5 p.Article

Genome-wide Association Study in a High-Risk Isolate for Multiple Sclerosis Reveals Associated Variants in STAT3 GeneJAKKULA, Eveliina; LEPPÄ, Virpi; ELOVAARA, Irina et al.American journal of human genetics. 2010, Vol 86, Num 2, pp 285-291, issn 0002-9297, 7 p.Article

Exome Sequencing, ANGPTL3 Mutations, and Familial Combined HypolipidemiaMUSUNURU, Kiran; PIRRUCCELLO, James P; FENNELL, Tim et al.The New England journal of medicine. 2010, Vol 363, Num 23, pp 2220-2227, issn 0028-4793, 8 p.Article

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephalyJEONG HO LEE; HUYNH, My; FUNARI, Vincent et al.Nature genetics. 2012, Vol 44, Num 8, pp 941-945, issn 1061-4036, 5 p.Article

Medulloblastoma exome sequencing uncovers subtype―specific somatic mutationsPUGH, Trevor J; DILHAN WEERARATNE, Shyamal; GREULICH, Heidi et al.Nature (London). 2012, Vol 488, Num 7409, pp 106-110, issn 0028-0836, 5 p.Article

Candidate Gene Association Resource (CARe): Design, Methods, and Proof of ConceptMUSUNURU, Kiran; LETTRE, Guillaume; CRENSHAW, Andrew et al.Circulation. Cardiovascular genetics (Print). 2010, Vol 3, Num 3, pp 267-275, issn 1942-325X, 9 p.Article

Integrated detection and population-genetic analysis of SNPs and copy number variationMCCARROLL, Steven A; KURUVLLLA, Finny G; ELLIOTT, Amanda L et al.Nature genetics. 2008, Vol 40, Num 10, pp 1166-1174, issn 1061-4036, 9 p.Article

Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorderFERREIRA, Manuel A. R; O'DONOVAN, Michael C; SMOLLER, Jordan W et al.Nature genetics. 2008, Vol 40, Num 9, pp 1056-1058, issn 1061-4036, 3 p.Article

Common genetic variation in five thrombosis genes and relations to plasma hemostatic protein level and cardiovascular disease riskKATHIRESAN, Sekar; QIONG YANG; LARSON, Martin G et al.Arteriosclerosis, thrombosis, and vascular biology. 2006, Vol 26, Num 6, pp 1405-1412, issn 1079-5642, 8 p.Article

Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancerBARBIERI, Christophere; BACA, Sylvan C; NICKERSON, Elizabeth et al.Nature genetics. 2012, Vol 44, Num 6, pp 685-689, issn 1061-4036, 5 p.Article

The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivityBARRETINA, Jordi; CAPONIGRO, Giordano; REDDY, Anupama et al.Nature (London). 2012, Vol 483, Num 7391, pp 603-607, issn 0028-0836, 5 p.Article

The genomic complexity of primary human prostate cancerBERGER, Michael F; LAWRENCE, Michael S; ONOFRIO, Robert et al.Nature (London). 2011, Vol 470, Num 7333, pp 214-220, issn 0028-0836, 7 p.Article

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13ALISKAN, Minal C; CHONG, Jessica X; MATERN, Dietrich et al.Human molecular genetics (Print). 2011, Vol 20, Num 7, pp 1285-1289, issn 0964-6906, 5 p.Article

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVsKORN, Joshua M; KURUVULA, Finny G; LEE, Charles et al.Nature genetics. 2008, Vol 40, Num 10, pp 1253-1260, issn 1061-4036, 8 p.Article

Two independent alleles at 6q23 associated with risk of rheumatoid arthritisPLENGE, Robert M; COTSAPAS, Chris; PARKIN, Melissa et al.Nature genetics. 2007, Vol 39, Num 12, pp 1477-1482, issn 1061-4036, 6 p.Article

Detecting recent positive selection in the human genome from haplotype structureSABETI, Pardis C; REICH, David E; ACKERMAN, Hans C et al.Nature (London). 2002, Vol 419, Num 6909, pp 832-837, issn 0028-0836Article

The structure of haplotype blocks in the human genomeGABRIEL, Stacey B; SCHAFFNER, Stephen F; LIU-CORDERO, Shau Neen et al.Science (Washington, D.C.). 2002, Vol 296, Num 5576, pp 2225-2229, issn 0036-8075Article

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