This profile is built from public research funding records (CIHR, NSERC and SSHRC) and PubMed. We have not imported them from a Université de Montréal directory, so their courses may be missing. Find their university profile.
Research
Latest papers
Risk of congenital heart defects is influenced by genetic variation in folate metabolism.
Cardiology in the young · 2013
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Proceedings of the National Academy of Sciences of the United States of America · 2012
Design and rationale of a genetic cohort study on congenital cardiac disease: experiences from a multi-institutional platform in Quebec.
Cardiology in the young · 2011
Latest funding
- $100,000
Cirhin's function extends far beyond North American Indian childhood cirrhosis.
CIHR · 2013 · Nominated PI
- $576,103
New directions for the use of genetic information by Aboriginal communities: Lessons learned from Québec First Nations with specific monogenic diseases.
CIHR · 2011 · Co-investigator
6 publications.
Risk of congenital heart defects is influenced by genetic variation in folate metabolism.
Christensen KE, Zada YF, Rohlicek CV, Andelfinger GU, Michaud JL, Bigras JL, Richter A, Dubé MP, Rozen R
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Girard M, Larivière R, Parfitt DA, Deane EC, Gaudet R, Nossova N, Blondeau F, Prenosil G, Vermeulen EG, Duchen MR, Richter A, Shoubridge EA, Gehring K, McKinney RA, Brais B, Chapple JP, McPherson PS
Design and rationale of a genetic cohort study on congenital cardiac disease: experiences from a multi-institutional platform in Quebec.
Dubé MP, Bigras JL, Thibeault M, Bureau N, Chetaille P, Richter A, Mercier J, Bellavance M, Rohlicek C, Rozen R, Nemer M, Khairy P, Gendron R, Andelfinger G
The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects.
Christensen KE, Rohlicek CV, Andelfinger GU, Michaud J, Bigras JL, Richter A, Mackenzie RE, Rozen R
RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec.
Yang Y, Houle AM, Letendre J, Richter A
[North American Indian childhood cirrhosis (NAIC)].
Richter A, Mitchell GA, Rasquin A
Cirhin's function extends far beyond North American Indian childhood cirrhosis.
Principal investigators: Richter, Andrea
Keywords: Animal Models; Cell Biology; Gene Function; Intrahepatic Cholestasis; Liver Disease Of First Nations Children
New directions for the use of genetic information by Aboriginal communities: Lessons learned from Québec First Nations with specific monogenic diseases.
Principal investigators: Laberge, Anne-Marie
Keywords: Carrier Screening; Cultural Issues; First Nations; Genetic Counseling; Genetic Information; Health Services Research; Needs Assessment; Program Evaluation; Recessive Diseases
From CIHR, NSERC and SSHRC funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998, including their latest published competition results.
Frequent collaborators
- Pédiatrie
- Pediatrics/Human Genetics
- Neurology and Neurosurgery
- Pediatrics
- Biochemistry
- Cardiology
Co-authors at Université de Montréal, colored by department. Thicker lines mean more shared papers; select anyone to open their profile and their own map.
Rima Rozen
Pediatrics/Human Genetics
3 shared papers, latest 2013
Gregor Andelfinger
Pédiatrie
1 shared papers, latest 2011
Jacques Michaud
Pediatrics
1 shared papers, latest 2009
Bernard Brais
Neurology and Neurosurgery
1 shared papers, latest 2012
Paul Khairy
Cardiology
1 shared papers, latest 2011
Kalle Gehring
Biochemistry
1 shared papers, latest 2012
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