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Article

Exome sequencing identifies the cause of a mendelian disorder.

Nature genetics - 1 Jan 2010

Ng Sarah B, Buckingham Kati J, Lee Choli, Bigham Abigail W, Tabor Holly K, Dent Karin M, Huff Chad D, Shannon Paul T, Jabs Ethylin Wang, Nickerson Deborah A, Shendure Jay, Bamshad Michael J

Abstract excerpt

We demonstrate the first successful application of exome sequencing to discover the gene for a rare mendelian disorder of unknown cause, Miller syndrome (MIM%263750). For four affected individuals in three independent kindreds, we captured and sequenced coding regions to a mean coverage of 40x an...

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Identifiers

PMID: 19915526
DOI: 10.1038/ng.499
PMCID: PMC2847889

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DHODH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19915526-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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