P185
Extraordinary molecular evolution in the PRDM9 fertility geneThe lncRNA Firre anchors the inactive X chromosome to the nucleolus by binding CTCF and maintains H3K27me3 methylationAnalysis of genetic inheritance in a family quartet by whole-genome sequencingWhole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesiaDisruptive CHD8 mutations define a subtype of autism early in developmentExome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesiaActivity-enhancing mutations in an E3 ubiquitin ligase identified by high-throughput mutagenesisA high-coverage genome sequence from an archaic Denisovan individualDiversity of human copy number variation and multicopy genesTargeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndromeAccurate gene synthesis with tag-directed retrieval of sequence-verified DNA moleculesExome sequencing identifies the cause of a mendelian disorderTargeted capture and massively parallel sequencing of 12 human exomesEstimating the human mutation rate using autozygosity in a founder populationExome sequencing identifies MLL2 mutations as a cause of Kabuki syndromeDe novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesThe haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell lineComputational discovery of sense-antisense transcription in the human and mouse genomesUnderstanding Spatial Genome Organization: Methods and InsightsSuccesses and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissectionsThe Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesAssemblathon 2: evaluating de novo methods of genome assembly in three vertebrate speciesThe contribution of de novo coding mutations to autism spectrum disorderMultiplex amplification of large sets of human exonsDe novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndromeA germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancerAdvanced sequencing technologies: methods and goalsHaploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndromeAccurate multiplex polony sequencing of an evolved bacterial genomeMultiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disordersThe complete genome sequence of a Neanderthal from the Altai MountainsA molecular pathway including Id2, Tbx5, and Nkx2-5 required for cardiac conduction system developmentComplex Minigene Library Vaccination for Discovery of Pre-Erythrocytic Plasmodium T Cell AntigensGuidelines for investigating causality of sequence variants in human diseasePoxviruses deploy genomic accordions to adapt rapidly against host antiviral defensesSporadic autism exomes reveal a highly interconnected protein network of de novo mutationsAdenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported PatientsExome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
P50
P802
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P50
description
American geneticist
@en
Amerikaans klinische genetica
@nl
geneticista norte-americano
@pt
genetista estadounidense
@es
genetista estatubatuarra
@eu
genetista estatunidenc
@ca
genetista statunitense
@it
géineolaí Meiriceánach
@ga
généticien américain
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jeneticiste american
@lfn
name
Jay Shendure
@ast
Jay Shendure
@ca
Jay Shendure
@de
Jay Shendure
@en
Jay Shendure
@es
Jay Shendure
@fr
Jay Shendure
@ga
Jay Shendure
@it
Jay Shendure
@nl
Jay Shendure
@sl
type
label
Jay Shendure
@ast
Jay Shendure
@ca
Jay Shendure
@de
Jay Shendure
@en
Jay Shendure
@es
Jay Shendure
@fr
Jay Shendure
@ga
Jay Shendure
@it
Jay Shendure
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Jay Shendure
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altLabel
Jay Ashok Shendure
@en
prefLabel
Jay Shendure
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Jay Shendure
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Jay Shendure
@de
Jay Shendure
@en
Jay Shendure
@es
Jay Shendure
@fr
Jay Shendure
@ga
Jay Shendure
@it
Jay Shendure
@nl
Jay Shendure
@sl
P166
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P101
P106
P1066
P166
P184
P19
P1960
Gb8qVzQAAAAJ
P2002
P21
P31
P496
0000-0002-1516-1865
P551
P569
1974-10-14T00:00:00Z