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Isabelle Thiffault

Affiliation : Children's Mercy Hospital · University of Missouri–Kansas City

• 4Publications (affiliation in the United States)
• 249Total publications
• 6487Citations
• 46h-index

ORCIDOpenAlex

Research profile

Isabelle Thiffault has 4 indexed publications (2014–2024). Their work appears mainly in “Genetics in Medicine” and “European Journal of Human Genetics”. Their most cited article, “A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome” (2014), has been cited 100 times. Their work is co-authored with at least 12 researchers, including institutions in Canada, Kuwait.

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Research areas

• Genomics and Rare Diseases
• Genetics and Neurodevelopmental Disorders
• Metabolism and Genetic Disorders
• Genomic variations and chromosomal abnormalities
• Hereditary Neurological Disorders

Publications (4)

• Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
  2024 · Genetics in Medicine · cited 5 times
• Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot
  2021 · Genetics in Medicine · cited 17 times
• Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot
  2021 · Genetics in Medicine
• A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome
  2014 · European Journal of Human Genetics · cited 100 times

Publication venues

• Genetics in Medicine × 3
• European Journal of Human Genetics × 1

Publications per year

• 20241
• 20212
• 20141

Collaborations

Partner institutions : Centre Hospitalier Universitaire Sainte-Justine · Children's Hospital of Philadelphia · CHU Sainte-Justine Research Center · University of Washington · National Institutes of Health

Co-authors’ countries : Canada · Kuwait

Co-authors

• Paul S. Kruszka
• Maximilian Muenke
• Amy E. Roberts
• Laura Cross
• Sarah E. Sheppard
• Alison M. Muir
• Alanna Strong
• Heather C. Mefford
• Tomi Pastinen
• Elaine H. Zackai
• Dihong Zhou
• Jennifer Stefanich

Bibliographic data from OpenAlex (open database).