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Author/Creator Consortium, FORGE Canada

1. Atypical fibrodysplasia ossificans progressiva diagnosed by whole‐exome sequencing. (21st April 2015)

Authors:
Liu, Hao; Sawyer, Sarah L; Gos, Monika; Grynspan, David; Issa, Kheirie; Ramphal, Raveena; Rotaru, Carmen; Consortium, FORGE Canada; Majewski, Jacek; Boycott, Kym M; Graham, Gail; Bromwich, Matthew
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 6(2015:Jun.)
Page Start:
1337
Record Type:
Journal Article
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2. Identification of Novel Mutations Confirms Pde4d as a Major Gene Causing Acrodysostosis. Issue 1 (9th November 2012)

Authors:
Lynch, Danielle C.; Dyment, David A.; Huang, Lijia; Nikkel, Sarah M.; Lacombe, Didier; Campeau, Philippe M.; Lee, Brendan; Bacino, Carlos A.; Michaud, Jacques L.; Bernier, Francois P.; Consortium, FORGE Canada; Parboosingh, Jillian S.; Innes, A. Micheil
Journal:
Human mutation
Issue:
Volume 34:Issue 1(2013:Jan.)
Page Start:
97
Record Type:
Journal Article
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3. Identification of Novel Mutations Confirms PDE4D as a Major Gene Causing Acrodysostosis. Issue 4 (11th February 2013)

Authors:
Lynch, Danielle C.; Dyment, David A.; Huang, Lijia; Nikkel, Sarah M.; Lacombe, Didier; Campeau, Philippe M.; Lee, Brendan; Bacino, Carlos A.; Michaud, Jacques L.; Bernier, Francois P.; Consortium, FORGE Canada; Parboosingh, Jillian S.; Innes, A. Micheil
Journal:
Human mutation
Issue:
Volume 34:Issue 4(2013:Apr.)
Page Start:
667
Record Type:
Journal Article
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4. Mutation in The Nuclear‐Encoded Mitochondrial Isoleucyl–tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome. Issue 2 (February 2015)

Authors:
Schwartzentruber, Jeremy; Buhas, Daniela; Majewski, Jacek; Sasarman, Florin; Papillon‐Cavanagh, Simon; Thiffault, Isabelle; Sheldon, Katherine M.; Massicotte, Christine; Patry, Lysanne; Simon, Mariella; Zare, Amir S.; McKernan, Kevin J.; Consortium, FORGE Canada; Michaud, Jacques; Boles, Richard ...
Journal:
Human mutation
Issue:
Volume 36:Issue 2(2015:Feb.)
Page Start:
281
Record Type:
Journal Article
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5. Mutations in TMEM231 cause Joubert syndrome in French Canadians. Issue 10 (25th September 2012)

Authors:
Srour, Myriam; Hamdan, Fadi F; Schwartzentruber, Jeremy A; Patry, Lysanne; Ospina, Luis H; Shevell, Michael I; Désilets, Valérie; Dobrzeniecka, Sylvia; Mathonnet, Géraldine; Lemyre, Emmanuelle; Massicotte, Christine; Labuda, Damian; Amrom, Dina; Andermann, Eva; Sébire, Guillaume; Maranda, Bruno; ...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 10(2012)
Page Start:
636
Record Type:
Journal Article
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