Researchclopedia

Research Researchers Institutions Topics Submit About

Command Palette

Search for a command to run...

Researchclopedia

Research Researchers Institutions About

© 2026 Researchclopedia. Powered by OpenAlex under CC0 license.

Isabelle Thiffault | Researchclopedia

Back to researchers

Isabelle Thiffault

Children's Mercy Hospital

217

Works

6,215

Citations

45

h-index

103

i10-index

Research Topics

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Genomic variations and chromosomal abnormalities

Affiliations

Boston Children's Hospital2019–2019

Montreal Neurological Institute and Hospital2012–2013

Children's Mercy Hospital2014–2025

University of Wisconsin–Madison2022–2022

Harvard University2019–2019

Top Works

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

Sarah Soden,Carol Saunders,et al.

2014530 citations

RNA modifications and cancer

RNA regulation and disease

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

Laurel K. Willig,Josh E Petrikin,et al.

2015405 citations

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

Neil Miller,Emily Farrow,et al.

2015318 citations

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants

Josh E Petrikin,Julie A. Cakici,et al.

2018218 citations

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

Isabelle Thiffault,Nicole I. Wolf,et al.

2015177 citations

Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

Vafa Bayat,Isabelle Thiffault,et al.

2012164 citations

The Founder Mutation MSH2*1906G→C Is an Important Cause of Hereditary Nonpolyposis Colorectal Cancer in the Ashkenazi Jewish Population

William D. Foulkes,Isabelle Thiffault,et al.

2002132 citations

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Heidi L. Rehm,Joseph T. Alaimo,et al.

2023121 citations

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Madelyn A. Gillentine,Tianyun Wang,et al.

2021111 citations