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Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation.
- Published in:
- 2020
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- Publication type:
- journal article
Deciphering Past Human Population Movements in Oceania: Provably Optimal Trees of 127 mtDNA Genomes.
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- Molecular Biology & Evolution, 2006, v. 23, n. 10, p. 1966, doi. 10.1093/molbev/msl063
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- Publication type:
- Article
Geographical, Linguistic, and Cultural Influences on Genetic Diversity: Y-Chromosomal Distribution in Northern European Populations.
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- Molecular Biology & Evolution, 2001, v. 18, n. 6, p. 1077, doi. 10.1093/oxfordjournals.molbev.a003879
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- Publication type:
- Article
High level of male-biased Scandinavian admixture in Greenlandic Inuit shown by Y-chromosomal analysis.
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- Human Genetics, 2003, v. 112, n. 4, p. 353, doi. 10.1007/s00439-003-0913-9
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- Publication type:
- Article
High throughput exome coverage of clinically relevant cardiac genes.
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- BMC Medical Genomics, 2014, v. 7, n. 1, p. 69, doi. 10.1186/s12920-014-0067-8
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- Publication type:
- Article
Don't mix radiocarbon and calendar years.
- Published in:
- Nature, 2005, v. 434, n. 7034, p. 697, doi. 10.1038/434697c
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- Publication type:
- Article
The DNA sequence of the human X chromosome.
- Published in:
- Nature, 2005, v. 434, n. 7031, p. 325, doi. 10.1038/nature03440
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- Publication type:
- Article
Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes.
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- Human Molecular Genetics, 2015, v. 24, n. 6, p. 1774, doi. 10.1093/hmg/ddu581
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- Publication type:
- Article
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.
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- Human Molecular Genetics, 2014, v. 23, n. 12, p. 3269, doi. 10.1093/hmg/ddu038
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- Publication type:
- Article
DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. R1, p. R37, doi. 10.1093/hmg/dds362
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- Publication type:
- Article
Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease.
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- Human Molecular Genetics, 2010, v. 19, n. 9, p. 1828, doi. 10.1093/hmg/ddq041
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- Publication type:
- Article
Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y.
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- Human Molecular Genetics, 2007, v. 16, n. 3, p. 307, doi. 10.1093/hmg/ddl465
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- Publication type:
- Article
Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-00323-y
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- Publication type:
- Article
Erratum: Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms.
- Published in:
- Nature Communications, 2015, v. 6, n. 9, p. 8389, doi. 10.1038/ncomms9389
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- Publication type:
- Article
Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms.
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- Nature Communications, 2015, v. 6, n. 6, p. 7256, doi. 10.1038/ncomms8256
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- Publication type:
- Article
The genome-wide effects of ionizing radiation on mutation induction in the mammalian germline.
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- Nature Communications, 2015, v. 6, n. 3, p. 6684, doi. 10.1038/ncomms7684
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- Publication type:
- Article
Managing clinically significant findings in research: the UK10K example.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1100, doi. 10.1038/ejhg.2013.290
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- Publication type:
- Article
Gene conversion homogenizes the CMT1A paralogous repeats.
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- BMC Genomics, 2001, v. 2, p. 11, doi. 10.1186/1471-2164-2-11
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- Publication type:
- Article
Quantifying single nucleotide variant detection sensitivity in exome sequencing.
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- BMC Bioinformatics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2105-14-195
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- Publication type:
- Article
Prenatal whole exome sequencing: the views of clinicians, scientists, genetic counsellors and patient representatives.
- Published in:
- 2016
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- Publication type:
- journal article
An integrated map of genetic variation from 1,092 human genomes.
- Published in:
- Nature, 2012, v. 491, n. 7422, p. 56, doi. 10.1038/nature11632
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- Publication type:
- Article
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.
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- Nature, 2010, v. 464, n. 7289, p. 713, doi. 10.1038/nature08979
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- Publication type:
- Article
Large, rare chromosomal deletions associated with severe early-onset obesity.
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- Nature, 2010, v. 463, n. 7281, p. 666, doi. 10.1038/nature08689
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- Publication type:
- Article
Paternal exposure to benzo(a)pyrene induces genome-wide mutations in mouse offspring.
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- Communications Biology, 2019, v. 2, n. 1, p. N.PAG, doi. 10.1038/s42003-019-0476-5
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- Publication type:
- Article
The Y-chromosome landscape of the Philippines: extensive heterogeneity and varying genetic affinities of Negrito and non-Negrito groups.
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- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 224, doi. 10.1038/ejhg.2010.162
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- Publication type:
- Article
Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages.
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- European Journal of Human Genetics, 2001, v. 9, n. 2, p. 97, doi. 10.1038/sj.ejhg.5200597
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- Publication type:
- Article
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
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- Nature Genetics, 2015, v. 47, n. 11, p. 1363, doi. 10.1038/ng.3410
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- Publication type:
- Article
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
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- Nature Genetics, 2013, v. 45, n. 5, p. 513, doi. 10.1038/ng.2607
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- Publication type:
- Article
Older males beget more mutations.
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- Nature Genetics, 2012, v. 44, n. 11, p. 1174, doi. 10.1038/ng.2448
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- Publication type:
- Article
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
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- Nature Genetics, 2012, v. 44, n. 4, p. 435, doi. 10.1038/ng.1083
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- Publication type:
- Article
Variation in genome-wide mutation rates within and between human families.
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- Nature Genetics, 2011, v. 43, n. 7, p. 712, doi. 10.1038/ng.862
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- Publication type:
- Article
Mutation spectrum revealed by breakpoint sequencing of human germline CNVs.
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- Nature Genetics, 2010, v. 42, n. 5, p. 385, doi. 10.1038/ng.564
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- Publication type:
- Article
A robust statistical method for case-control association testing with copy number variation.
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- Nature Genetics, 2008, v. 40, n. 10, p. 1245, doi. 10.1038/ng.206
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- Publication type:
- Article
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing.
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- Nature Genetics, 2008, v. 40, n. 6, p. 722, doi. 10.1038/ng.128
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- Publication type:
- Article
Germline rates of de novo meiotic deletions and duplications causing several genomic disorders.
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- Nature Genetics, 2008, v. 40, n. 1, p. 90, doi. 10.1038/ng.2007.40
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- Publication type:
- Article
Challenges and standards in integrating surveys of structural variation.
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- Nature Genetics, 2007, v. 39, p. S7, doi. 10.1038/ng2093
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- Publication type:
- Article
The population genetics of structural variation.
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- Nature Genetics, 2007, v. 39, p. S30, doi. 10.1038/ng2042
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- Publication type:
- Article
Genome assembly comparison identifies structural variants in the human genome.
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- Nature Genetics, 2006, v. 38, n. 12, p. 1413, doi. 10.1038/ng1921
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- Publication type:
- Article
A high-resolution survey of deletion polymorphism in the human genome.
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- Nature Genetics, 2006, v. 38, n. 1, p. 75, doi. 10.1038/ng1697
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- Publication type:
- Article
A singular chromosome.
- Published in:
- Nature Genetics, 2003, v. 34, n. 3, p. 246, doi. 10.1038/ng0703-246
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- Publication type:
- Article
Cis and Trans Effects of Human Genomic Variants on Gene Expression.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 7, p. 1, doi. 10.1371/journal.pgen.1004461
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- Publication type:
- Article
A Genome-Wide Assessment of the Role of Untagged Copy Number Variants in Type 1 Diabetes.
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- PLoS Genetics, 2014, v. 10, n. 5, p. 1, doi. 10.1371/journal.pgen.1004367
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- Publication type:
- Article
The Rate of Nonallelic Homologous Recombination in Males Is Highly Variable, Correlated between Monozygotic Twins and Independent of Age.
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- PLoS Genetics, 2014, v. 10, n. 3, p. 1, doi. 10.1371/journal.pgen.1004195
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- Publication type:
- Article
Genetic Analysis of Completely Sequenced Disease-Associated MHC Haplotypes Identifies Shuffling of Segments in Recent Human History.
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- PLoS Genetics, 2006, v. 2, n. 1, p. e9, doi. 10.1371/journal.pgen.0020009
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- Publication type:
- Article
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10016-3
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- Publication type:
- Article
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.
- Published in:
- Nature Biotechnology, 2011, v. 29, n. 6, p. 512, doi. 10.1038/nbt.1852
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- Publication type:
- Article
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 12, p. e1580, doi. 10.1210/clinem/dgad373
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- Publication type:
- Article
VarMap: a web tool for mapping genomic coordinates to protein sequence and structure and retrieving protein structural annotations.
- Published in:
- Bioinformatics, 2019, v. 35, n. 22, p. 4854, doi. 10.1093/bioinformatics/btz482
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- Article
The past within us.
- Published in:
- Nature Genetics, 2000, v. 26, n. 3, p. 253, doi. 10.1038/81518
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- Publication type:
- Article
Gene Duplication: The Genomic Trade in Spare Parts.
- Published in:
- PLoS Biology, 2004, v. 2, n. 7, p. 1, doi. 10.1371/journal.pbio.0020206
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- Publication type:
- Article