(Q33468837)

27 July 2017

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title

Whole genome scanning: resolving clinical diagnosis and management amidst complex data (English)

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27 July 2017

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whole genome sequencing

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5

Stephen W Scherer

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27 July 2017

1

Sarah E Ali-Khan

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27 July 2017

2

Abdallah S Daar

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27 July 2017

Cheryl Shuman

3

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27 July 2017

Peter N Ray

series ordinal

4

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27 July 2017

language of work or name

English

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publication date

1 October 2009

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27 July 2017

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27 July 2017

volume

66

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27 July 2017

issue

4

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27 July 2017

page(s)

357-363

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The diploid genome sequence of an individual human

27 July 2017

cites work

1 reference

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The complete genome of an individual by massively parallel DNA sequencing

21 January 2018

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Accurate whole human genome sequencing using reversible terminator chemistry

21 January 2018

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DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

21 January 2018

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https://api.crossref.org/works/10.1203%2FPDR.0B013E3181B0CBD8

US election: Questioning the candidates. Interview by Alexandra Witze

21 January 2018

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https://api.crossref.org/works/10.1203%2FPDR.0B013E3181B0CBD8

Research ethics and the challenge of whole-genome sequencing

21 January 2018

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https://api.crossref.org/works/10.1203%2FPDR.0B013E3181B0CBD8

Ethical implications of array comparative genomic hybridization in complex phenotypes: points to consider in research

21 January 2018

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Research ethics recommendations for whole-genome research: consensus statement

21 January 2018

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Methods and strategies for analyzing copy number variation using DNA microarrays

21 January 2018

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Array-based DNA diagnostics: let the revolution begin

21 January 2018

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Structural variation in the human genome

21 January 2018

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https://api.crossref.org/works/10.1203%2FPDR.0B013E3181B0CBD8

Application of array-based comparative genomic hybridization to clinical diagnostics

21 January 2018

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Diagnostic genome profiling: unbiased whole genome or targeted analysis?

21 January 2018

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Contemplating effects of genomic structural variation

21 January 2018

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Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome

21 January 2018

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Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

21 January 2018

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Diagnostic genome profiling in mental retardation

21 January 2018

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Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

21 January 2018

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The diploid genome sequence of an Asian individual

21 January 2018

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Detection of large-scale variation in the human genome

21 January 2018

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Large-scale copy number polymorphism in the human genome

21 January 2018

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Global variation in copy number in the human genome

21 January 2018

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Mapping and sequencing of structural variation from eight human genomes

21 January 2018

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Structural variation in the human genome: the impact of copy number variants on clinical diagnosis.

21 January 2018

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The cycle of genome-directed medicine

21 January 2018

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Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

21 January 2018

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Mapping autism risk loci using genetic linkage and chromosomal rearrangements

21 January 2018

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Strong association of de novo copy number mutations with autism

21 January 2018

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Structural variation of chromosomes in autism spectrum disorder

21 January 2018

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Advances in autism genetics: on the threshold of a new neurobiology

21 January 2018

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Association between microdeletion and microduplication at 16p11.2 and autism

21 January 2018

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Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives

21 January 2018

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Human genetics: Dr Watson's base pairs.

21 January 2018

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Challenges and standards in integrating surveys of structural variation

21 January 2018

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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

21 January 2018

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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

21 January 2018

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Genetics education for primary-care providers

21 January 2018

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The wide gap between genetic research and clinical needs

21 January 2018

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Common sense for our genomes

21 January 2018

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Contribution of SHANK3 mutations to autism spectrum disorder

21 January 2018

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Genetic susceptibility to breast cancer

21 January 2018

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Managing incidental findings in human subjects research: analysis and recommendations

21 January 2018

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Carrier testing in minors: a systematic review of guidelines and position papers

21 January 2018

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Ethical and legal implications of the new genetics: issues for discussion

21 January 2018

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Categorizing genetic tests to identify their ethical, legal, and social implications

21 January 2018

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Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder

21 January 2018

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Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist

21 January 2018

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The duty to recontact: attitudes of genetics service providers.

21 January 2018

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Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

21 January 2018

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10.1203/PDR.0B013E3181B0CBD8

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

27 July 2017

1010485712

0 references

1 reference