Isabelle Thiffault

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

Sarah Soden, Carol Saunders, Laurel K. Willig et al. · Science Translational Medicine · 2014 · 527 citations

Neurological Disorder, Diagnosis, Disease Gene Identification +18

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, Laurie D. Smith et al. · The Lancet Respiratory Medicine · 2015 · 403 citations · Full text

Whole-genome Sequencing, Sequencing, Mendelian Disorder +9

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

Neil Miller, Emily Farrow, Margaret Gibson et al. · Genome Medicine · 2015 · 315 citations · Full text

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

Josh E Petrikin, Julie A. Cakici, Michelle M. Clark et al. · npj Genomic Medicine · 2018 · 217 citations · Full text

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

Isabelle Thiffault, Nicole I. Wolf, Diane Forget et al. · Nature Communications · 2015 · 176 citations · Full text