Julie Harvengt
University of Liège(BE)Clinique Saint-Joseph(BE)Centre Hospitalier Universitaire de Liège(BE)
Publications by Year
Research Areas
Genomics and Rare Diseases, Connective tissue disorders research, Genetic Associations and Epidemiology, Prenatal Screening and Diagnostics, Metabolism and Genetic Disorders
Most-Cited Works
- → Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function(2020)110 cited
- → Genetic association analysis of 77,539 genomes reveals rare disease etiologies(2023)74 cited
- → ROHHAD(NET) Syndrome: Systematic Review of the Clinical Timeline and Recommendations for Diagnosis and Prognosis(2020)66 cited
- → Population-based, first-tier genomic newborn screening in the maternity ward(2025)31 cited
- → Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours(2023)25 cited
- → Phenotype–Genotype Correlation in Children with Neurofibromatosis Type 1(2018)25 cited
- → Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review