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Rachel Laframboise
Rachel Laframboise
Verified email at crchudequebec.ulaval.ca
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Cited by
Cited by
Year
Immune checkpoint inhibition for hypermutant glioblastoma multiforme resulting from germline biallelic mismatch repair deficiency
E Bouffet, V Larouche, BB Campbell, D Merico, R De Borja, M Aronson, ...
Journal of clinical oncology 34 (19), 2206-2211, 2016
8302016
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer
TR Rebbeck, N Mitra, F Wan, OM Sinilnikova, S Healey, L McGuffog, ...
Jama 313 (13), 1347-1361, 2015
5472015
Identification of six new susceptibility loci for invasive epithelial ovarian cancer
KB Kuchenbaecker, SJ Ramus, J Tyrer, A Lee, HC Shen, J Beesley, ...
Nature genetics 47 (2), 164-171, 2015
3072015
A search for the possible molecular mechanisms of thyroid dysgenesis: sex ratios and associated malformations
H Devos, C Rodd, N Gagné, R Laframboise, G Van Vliet
The Journal of Clinical Endocrinology & Metabolism 84 (7), 2502-2506, 1999
2581999
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec
J Larochelle, F Alvarez, JF Bussières, I Chevalier, L Dallaire, J Dubois, ...
Molecular genetics and metabolism 107 (1-2), 49-54, 2012
1642012
Defect in Vitamin B12 Release from Lysosomes: Newly Described Inborn Error of Vitamin B12 Metabolism
DS Rosenblatt, A Hosack, NV Matiaszuk, BA Cooper, R Laframboise
Science 228 (4705), 1319-1321, 1985
1591985
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170
AM Dunning, K Michailidou, KB Kuchenbaecker, D Thompson, JD French, ...
Nature genetics 48 (4), 374-386, 2016
1532016
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population
M Srour, J Schwartzentruber, FF Hamdan, LH Ospina, L Patry, D Labuda, ...
The American Journal of Human Genetics 90 (4), 693-700, 2012
1412012
A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec.
F Merante, R Petrova-Benedict, N MacKay, G Mitchell, M Lambert, ...
American journal of human genetics 53 (2), 481, 1993
1311993
Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease
C Auray-Blais, D Cyr, A Ntwari, ML West, J Cox-Brinkman, DG Bichet, ...
Molecular genetics and metabolism 93 (3), 331-340, 2008
1182008
LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency
FG Debray, C Morin, A Janvier, J Villeneuve, B Maranda, R Laframboise, ...
Journal of medical genetics 48 (3), 183-189, 2011
1172011
Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer
J Simard, M Dumont, AM Moisan, V Gaborieau, H Vézina, F Durocher, ...
Journal of medical genetics 44 (2), 107-121, 2007
1102007
Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.
D Phaneuf, M Lambert, R Laframboise, G Mitchell, F Lettre, RM Tanguay
The Journal of clinical investigation 90 (4), 1185-1192, 1992
1001992
Genetic analysis of patients with the Saethre‐Chotzen phenotype
K Chun, AS Teebi, JH Jung, S Kennedy, R Laframboise, WS Meschino, ...
American journal of medical genetics 110 (2), 136-143, 2002
972002
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems
S Chénier, G Yoon, B Argiropoulos, J Lauzon, R Laframboise, JW Ahn, ...
Journal of neurodevelopmental disorders 6, 1-9, 2014
962014
Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program
LC Sniderman, M Lambert, R Giguère, C Auray-Blais, B Lemieux, ...
The Journal of pediatrics 134 (6), 675-680, 1999
791999
NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings
S Pitkanen, A Feigenbaum, R Laframboise, BH Robinson
Journal of inherited metabolic disease 19, 675-686, 1996
781996
Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families
H Vézina, F Durocher, M Dumont, L Houde, C Szabo, M Tranchant, ...
Human genetics 117, 119-132, 2005
732005
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl‐CoA: α‐glucosaminide N‐acetyltransferase (HGSNAT) gene
M Feldhammer, S Durand, L Mrázová, RM Boucher, R Laframboise, ...
Human mutation 30 (6), 918-925, 2009
722009
Joubert syndrome in French Canadians and identification of mutations in CEP104
M Srour, FF Hamdan, D McKnight, E Davis, H Mandel, J Schwartzentruber, ...
The American Journal of Human Genetics 97 (5), 744-753, 2015
702015
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