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Frédérique Tihy | Researchclopedia

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Frédérique Tihy

Centre Hospitalier Universitaire Sainte-Justine

33

Works

975

Citations

15

h-index

16

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Prenatal Screening and Diagnostics Chromosomal and Genetic Variations

Affiliations

Centre National de la Recherche Scientifique1992–1992

Centre Hospitalier Universitaire Sainte-Justine1998–2025

Université de Montréal1992–2025

Institut Curie1992–1992

Top Works

Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada

Christine M. Armour,Shelley Dougan,et al.

2018119 citations

Genomics and Rare Diseases

Fetal and Pediatric Neurological Disorders

Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples

Guillaume Huguet,Catherine Schramm,et al.

2018103 citations

RETIRED: Prenatal Screening for Fetal Aneuploidy

Anne Summers,Sylvie Langlois,et al.

200799 citations

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

Sébastien Chénier,Grace Yoon,et al.

201496 citations

Prenatal cytogenetic assessment and inv(2)(p11.2q13)

Meaghan Hysert,Hélène Bruyèrè,et al.

200685 citations

Complex chromosome rearrangement and recombinant balanced translocation in a mother and a daughter with the same phenotypic abnormalities

Frédérique Tihy,Nicole Lemieux,et al.

200573 citations

Prenatal Screening for and Diagnosis of Aneuploidy in Twin Pregnancies

François Audibert,Alain Gagnon,et al.

201167 citations

Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability

Guillaume Huguet,Catherine Schramm,et al.

202165 citations

Localization of a Renal Sodium-Phosphate Cotransporter Gene to Human Chromosome 5q35

Claudine H. Kos,Frédérique Tihy,et al.

199464 citations