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Results 1 to 25 of 38

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The population genetics of structural variationCONRAD, Donald F; HURLES, Matthew E.Nature genetics. 2007, Vol 39, Num 7, issn 1061-4036, S30-S36, SUPArticle

The functional impact of structural variation in humansHURLES, Matthew E; DERMITZAKIS, Emmanouil T; TYLER-SMITH, Chris et al.Trends in genetics (Regular ed.). 2008, Vol 24, Num 5, pp 238-245, issn 0168-9525, 8 p.Article

A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombinationLINDSAY, Sarah J; KHAJAVI, Mehrdad; LUPSKI, James R et al.American journal of human genetics. 2006, Vol 79, Num 5, pp 890-902, issn 0002-9297, 13 p.Article

Untangling Oceanic settlement: the edge of the knowableHURLES, Matthew E; MATISOO-SMITH, Elizabeth; GRAY, Russell D et al.Trends in ecology & evolution (Amsterdam). 2003, Vol 18, Num 10, pp 531-540, issn 0169-5347, 10 p.Article

The dual origin of the malagasy in Island Southeast Asia and East Africa : Evidence from maternal and paternal lineagesHURLES, Matthew E; SYKES, Bryan C; JOBLING, Mark A et al.American journal of human genetics. 2005, Vol 76, Num 5, pp 894-901, issn 0002-9297, 8 p.Article

Cerebral organoids model human brain development and microcephalyLANCASTER, Madeline A; RENNER, Magdalena; MARTIN, Carol-Anne et al.Nature (London). 2013, Vol 501, Num 7467, pp 373-379, issn 0028-0836, 7 p.Article

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variantsPINTO, Dalila; DARVISHI, Katayoon; PRASAD, Aparna et al.Nature biotechnology (Print). 2011, Vol 29, Num 6, pp 512-520, issn 1087-0156, 9 p.Article

Challenges and standards in integrating surveys of structural variationSCHERER, Stephen W; LEE, Charles; BIRNEY, Ewan et al.Nature genetics. 2007, Vol 39, Num 7, issn 1061-4036, S7-S15, SUPArticle

Global variation in copy number in the human genomeREDON, Richard; ISHIKAWA, Shumpei; EUN KYUNG CHO et al.Nature (London). 2006, Vol 444, Num 7118, pp 444-454, issn 0028-0836, 11 p.Article

Native American Y chromosomes in polynesia: The genetic impact of the Polynesian slave tradeHURLES, Matthew E; MAUND, Emma; NICHOLSON, Jane et al.American journal of human genetics. 2003, Vol 72, Num 5, pp 1282-1287, issn 0002-9297, 6 p.Article

Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum DisordersRUI LUO; SANDERS, Stephan J; HURLES, Matthew E et al.American journal of human genetics. 2012, Vol 91, Num 1, pp 38-55, issn 0002-9297, 18 p.Article

Germline rates of de novo meiotic deletions and duplications causing several genomic disordersTURNER, Daniel J; MIRETTI, Marcos; RAJAN, Diana et al.Nature genetics. 2008, Vol 40, Num 1, pp 90-95, issn 1061-4036, 6 p.Article

Structural variation on the short arm of the human Y chromosome : recurrent multigene deletions encompassing Amelogenin YJOBLING, Mark A; LO, Iek Chi C; KRAAIJENBRINK, Thirsa et al.Human molecular genetics (Print). 2007, Vol 16, Num 3, pp 307-316, issn 0964-6906, 10 p.Article

Paired-end mapping reveals extensive structural variation in the human genomeKORBEL, Jan O; ECKEHART URBAN, Alexander; TAILLON, Bruce E et al.Science (Washington, D.C.). 2007, Vol 318, Num 5849, pp 420-426, issn 0036-8075, 7 p.Article

Divergent outcomes of intrachromosomal recombination on the human Y chromosome : male infertility and recurrent polymorphismBLANCO, Patricia; SHLUMUKOVA, Maria; SARGENT, Carole A et al.Journal of medical genetics. 2000, Vol 37, Num 10, pp 752-758, issn 0022-2593Article

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding GenesMACARTHUR, Daniel G; BALASUBRAMANIAN, Suganthi; ALBERS, Cornelis A et al.Science (Washington, D.C.). 2012, Vol 335, Num 6070, pp 823-828, issn 0036-8075, 6 p.Article

Genome-Wide Screen for Metabolic Syndrome Susceptibility Loci Reveals Strong Lipid Gene Contribution But No Evidence for Common Genetic Basis for Clustering of Metabolic Syndrome TraitsKRISTIANSSON, Kati; PEROLA, Markus; ERIKSSON, Johan G et al.Circulation. Cardiovascular genetics (Print). 2012, Vol 5, Num 2, pp 242-249, issn 1942-325X, 8 p.Article

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disordersSWAMINATHAN, Ganesh J; BRAGIN, Eugene; CHATZIMICHALI, Eleni A et al.Human molecular genetics (Print). 2012, Vol 21, Num 1, issn 0964-6906, R37-R44, NS1Article

Independent and population-specific association of risk variants at the IRGM locus with Crohn's diseasePRESCOTT, Natalie J; DOMINY, Katherine M; PARKES, Gareth et al.Human molecular genetics (Print). 2010, Vol 19, Num 9, pp 1828-1839, issn 0964-6906, 12 p.Article

Evidence for widespread reticulate evolution within human dupliconsJACKSON, Michael S; OLIVER, Karen; LOVELAND, Jane et al.American journal of human genetics. 2005, Vol 77, Num 5, pp 824-840, issn 0002-9297, 17 p.Article

Y-Chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by languageROSSER, Zoë H; ZERJAL, Tatiana; BECKMAN, Gunhild et al.American journal of human genetics. 2000, Vol 67, Num 6, pp 1526-1543, issn 0002-9297Article

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesisHARLALKA, Gaurav V; LEHMAN, Anna; PROUKAKIS, Christos et al.Brain. 2013, Vol 136, pp 3618-3624, issn 0006-8950, 7 p., 12Article

Mapping copy number variation by population-scale genome sequencingMILLS, Ryan E; WALTER, Klaudia; CHINWALLA, Asif et al.Nature (London). 2011, Vol 470, Num 7332, pp 59-65, issn 0028-0836, 7 p.Article

Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencingPARK, Hansoo; KIM, Jong-Il; YUN JOO YOO et al.Nature genetics. 2010, Vol 42, Num 5, pp 400-405, issn 1061-4036, 6 p.Article

Mutation spectrum revealed by breakpoint sequencing of human germline CNVsCONRAD, Donald F; BIRD, Christine; BLACKBURNE, Ben et al.Nature genetics. 2010, Vol 42, Num 5, pp 385-391, issn 1061-4036, 7 p.Article

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