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Article

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.

American journal of human genetics - 5 Jun 2014

Beaulieu Chandree L, Majewski Jacek, Schwartzentruber Jeremy, Samuels Mark E, Fernandez Bridget A, Bernier Francois P, Brudno Michael, Knoppers Bartha, Marcadier Janet, Dyment David, Adam Shelin, Bulman Dennis E, Jones Steve J M, Avard Denise, Nguyen Minh Thu, Rousseau Francois, Marshall Christian, Wintle Richard F, Shen Yaoqing, Scherer Stephen W, Friedman Jan M, Michaud Jacques L, Boycott Kym M

Abstract excerpt

Inherited monogenic disease has an enormous impact on the well-being of children and their families. Over half of the children living with one of these conditions are without a molecular diagnosis because of the rarity of the disease, the marked clinical heterogeneity, and the reality that there...

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Identifiers

PMID: 24906018
DOI: 10.1016/j.ajhg.2014.05.003
PMCID: PMC4121481

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24906018-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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