Laframboise, Rachel

Immune checkpoint inhibition for hypermutant glioblastoma multiforme resulting from germline biallelic mismatch repair deficiency

Bouffet, E., Larouche, V., Campbell, B. B., Merico, D., de Borja, R., Aronson, M., Durno, C., Krueger, J., Cabric, V., Ramaswamy, V., et al. (2016) · Journal of Clinical Oncology

Glioma Diagnosis and TreatmentCancer Immunotherapy and Biomarkers

Cited by 857

Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer

Rebbeck, T. R., Mitra, N., Wan, F., Sinilnikova, O. M., Healey, S., McGuffog, L., Mazoyer, S., Chenevix-Trench, G., Easton, D. F., Antoniou, A. C., et al. (2015) · JAMA

BRCA gene mutations in cancerMultiple and Secondary Primary Cancers

Cited by 521

A Search for the Possible Molecular Mechanisms of Thyroid Dysgenesis: Sex Ratios and Associated Malformations

Devos, H., Rodd, C., Gagné, N., Laframboise, R., & Van Vliet, G. (1999) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsHead and Neck Anomalies

Cited by 204

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

EMBRACE, Dunning, A. M., Collaborators, G. S., HEBON, kConFab Investigators, Michailidou, K., Kuchenbaecker, K. B., Thompson, D., French, J. D., Beesley, J., et al. (2016) · Nature Genetics

Genetic Associations and EpidemiologyEstrogen and related hormone effects

Cited by 161

Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec

Larochelle, J., Alvarez, F., Bussières, J.-F., Chevalier, I., Dallaire, L., Dubois, J., Faucher, F., Fenyves, D., Goodyer, P., Grenier, A., et al. (2012) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 137

Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.

Phaneuf, D., Lambert, M., Laframboise, R., Mitchell, G., Lettre, F., & Tanguay, R. M. (1992) · Journal of Clinical Investigation

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 84