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Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation.
- Published in:
- 2020
- By:
- Publication type:
- journal article
How homologous recombination generates a mutable genome.
- Published in:
- Human Genomics, 2005, v. 2, n. 3, p. 179, doi. 10.1186/1479-7364-2-3-179
- By:
- Publication type:
- Article
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
- Published in:
- 2015
- By:
- Publication type:
- journal 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
- By:
- Publication type:
- Article
Male Demography in East Asia: A North-South Contrast in Human Population Expansion Times.
- Published in:
- Genetics, 2006, v. 172, n. 4, p. 2431, doi. 10.1534/genetics.105.054270
- By:
- Publication type:
- Article
Y Chromosomal Evidence for the Origins of Oceanic-Speaking Peoples.
- Published in:
- Genetics, 2002, v. 160, n. 1, p. 289, doi. 10.1093/genetics/160.1.289
- By:
- Publication type:
- Article
DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation.
- Published in:
- Nucleic Acids Research, 2014, v. 42, n. D1, p. D993, doi. 10.1093/nar/gkt937
- By:
- Publication type:
- Article
Long-range, high-throughput haplotype determination via haplotype-fusion PCR and ligation haplotyping.
- Published in:
- Nucleic Acids Research, 2008, v. 36, n. 13, p. e82, doi. 10.1093/nar/gkn373
- By:
- Publication type:
- Article
Empirical research on the ethics of genomic research.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2099, doi. 10.1002/ajmg.a.36067
- By:
- 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
- By:
- Publication type:
- Article
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
- Published in:
- Nature Genetics, 2015, v. 47, n. 11, p. 1363, doi. 10.1038/ng.3410
- By:
- Publication type:
- Article
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
- Published in:
- Nature Genetics, 2013, v. 45, n. 5, p. 513, doi. 10.1038/ng.2607
- By:
- Publication type:
- Article
Older males beget more mutations.
- Published in:
- Nature Genetics, 2012, v. 44, n. 11, p. 1174, doi. 10.1038/ng.2448
- By:
- 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.
- Published in:
- Nature Genetics, 2012, v. 44, n. 4, p. 435, doi. 10.1038/ng.1083
- By:
- Publication type:
- Article
Variation in genome-wide mutation rates within and between human families.
- Published in:
- 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.
- Published in:
- Nature Genetics, 2010, v. 42, n. 5, p. 385, doi. 10.1038/ng.564
- By:
- Publication type:
- Article
A robust statistical method for case-control association testing with copy number variation.
- Published in:
- Nature Genetics, 2008, v. 40, n. 10, p. 1245, doi. 10.1038/ng.206
- By:
- Publication type:
- Article
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- Nature Genetics, 2007, v. 39, p. S7, doi. 10.1038/ng2093
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- Publication type:
- Article
The population genetics of structural variation.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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
The past within us.
- Published in:
- Nature Genetics, 2000, v. 26, n. 3, p. 253, doi. 10.1038/81518
- By:
- Publication type:
- Article
DeNovoGear: de novo indel and point mutation discovery and phasing.
- Published in:
- Nature Methods, 2013, v. 10, n. 10, p. 985, doi. 10.1038/nmeth.2611
- By:
- Publication type:
- Article
Assaying chromosomal inversions by single-molecule haplotyping.
- Published in:
- Nature Methods, 2006, v. 3, n. 6, p. 439, doi. 10.1038/nmeth881
- By:
- Publication type:
- Article
The Diagnostic Yield of Prenatal Genetic Technologies in Congenital Heart Disease: A Prospective Cohort Study.
- Published in:
- Fetal Diagnosis & Therapy, 2021, v. 48, n. 2, p. 112, doi. 10.1159/000512488
- By:
- Publication type:
- Article
Copy number variation in the human Y chromosome in the UK population.
- Published in:
- Human Genetics, 2015, v. 134, n. 7, p. 789, doi. 10.1007/s00439-015-1562-5
- By:
- Publication type:
- Article
Erratum to: Copy number variation in the human Y chromosome in the UK population.
- Published in:
- 2015
- By:
- Publication type:
- Erratum
High level of male-biased Scandinavian admixture in Greenlandic Inuit shown by Y-chromosomal analysis.
- Published in:
- Human Genetics, 2003, v. 112, n. 4, p. 353, doi. 10.1007/s00439-003-0913-9
- By:
- Publication type:
- Article
Contribution of retrotransposition to developmental disorders.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12520-y
- By:
- Publication type:
- Article
Similarities and differences in patterns of germline mutation between mice and humans.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12023-w
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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
- By:
- 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
- By:
- Publication type:
- Article
The Y-chromosome landscape of the Philippines: extensive heterogeneity and varying genetic affinities of Negrito and non-Negrito groups.
- Published in:
- 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.
- Published in:
- 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
Gene conversion homogenizes the CMT1A paralogous repeats.
- Published in:
- BMC Genomics, 2001, v. 2, p. 11, doi. 10.1186/1471-2164-2-11
- By:
- Publication type:
- Article
Quantifying single nucleotide variant detection sensitivity in exome sequencing.
- Published in:
- BMC Bioinformatics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2105-14-195
- By:
- Publication type:
- Article
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.
- Published in:
- Nature, 2010, v. 464, n. 7289, p. 713, doi. 10.1038/nature08979
- By:
- Publication type:
- Article
Large, rare chromosomal deletions associated with severe early-onset obesity.
- Published in:
- Nature, 2010, v. 463, n. 7281, p. 666, doi. 10.1038/nature08689
- By:
- Publication type:
- Article
COX10 Mutations Resulting in Complex Multisystem Mitochondrial Disease That Remains Stable Into Adulthood.
- Published in:
- JAMA Neurology, 2013, v. 70, n. 12, p. 1556, doi. 10.1001/jamaneurol.2013.3242
- By:
- Publication type:
- Article
Shotgun haplotyping: a novel method for surveying allelic sequence variation.
- Published in:
- Nucleic Acids Research, 2005, v. 33, n. 18, p. e152, doi. 10.1093/nar/gni152
- By:
- Publication type:
- Article
High throughput exome coverage of clinically relevant cardiac genes.
- Published in:
- BMC Medical Genomics, 2014, v. 7, n. 1, p. 69, doi. 10.1186/s12920-014-0067-8
- By:
- Publication type:
- Article
Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.
- Published in:
- Journal of Clinical Investigation, 2015, v. 125, n. 4, p. 1670, doi. 10.1172/JCI79765
- By:
- Publication type:
- Article
Haploid chromosomes in molecular ecology: lessons from the human Y.
- Published in:
- Molecular Ecology, 2001, v. 10, n. 7, p. 1599, doi. 10.1046/j.0962-1083.2001.01314.x
- By:
- 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
- By:
- Publication type:
- Article
Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms.
- Published in:
- Nature Communications, 2015, v. 6, n. 6, p. 7256, doi. 10.1038/ncomms8256
- By:
- Publication type:
- Article
The genome-wide effects of ionizing radiation on mutation induction in the mammalian germline.
- Published in:
- Nature Communications, 2015, v. 6, n. 3, p. 6684, doi. 10.1038/ncomms7684
- By:
- Publication type:
- Article
An Atlas of Variant Effects to understand the genome at nucleotide resolution.
- Published in:
- 2023
- By:
- Publication type:
- Editorial