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Genomic contributions to Mendelian disease

scientific article published on May 2011

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12 October 2017

Genomic contributions to Mendelian disease (English)

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12 October 2017

Aravinda Chakravarti

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1 May 2011

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21

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643-644

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Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083080

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6 June 2018

A map of human genome variation from population-scale sequencing

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083080

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Targeted capture and massively parallel sequencing of 12 human exomes

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083080

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The Human Gene Mutation Database: 2008 update

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083080

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6 June 2018

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10.1101/GR.123554.111

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3083080

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PubMed publication ID

21536725

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3083080

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ResearchGate publication ID

51092759

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(Q41819120)

Genomic contributions to Mendelian disease

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