Camille Rochette

Identification of Proximal Spinal Muscular Atrophy Carriers and Patients by Analysis of SMNT and SMNC Gene Copy Number

Patricia McAndrew, D. Williams Parsons, Louise R. Simard et al. · The American Journal of Human Genetics · 1997 · 529 citations · Full text

Genetic Analysis, Spinal Cord Injury, Genetic Disorder +9

SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens

Camille Rochette, Nicolas Gilbert, Louise R. Simard · Human Genetics · 2001 · 230 citations

Biology, Genetic Disorder, Natural Sciences +10

A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients

Terri G. Thompson, Christine J. DiDonato, Louise R. Simard et al. · Nature Genetics · 1995 · 83 citations

Engineering, Mendelian Disorder, Homozygous Microdeletions +10

Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7

Camille Rochette, Linda Surh, Peter N. Ray et al. · Neurogenetics · 1997 · 58 citations

Non-deletion Sma Patients, Molecular Diagnosis, Medicine +9

SMNT and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): Genotype/phenotype correlations with disease severity

Louise R. Simard, Camille Rochette, Alexandre Semionov et al. · American Journal of Medical Genetics · 1997 · 47 citations