Ilse Meerschaut

<i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity

Ilse Meerschaut, Daniel Rochefort, Nicole Revençu et al. · Journal of Medical Genetics · 2017 · 72 citations · Full text

Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the <i>FBN1</i> Gene for Marfan Syndrome

Laura Muiño Mosquera, Felke Steijns, Tjorven Audenaert et al. · Circulation Genomic and Precision Medicine · 2018 · 30 citations · Full text

A clinical scoring system for congenital contractural arachnodactyly

Ilse Meerschaut, Shana De Coninck, Wouter Steyaert et al. · Genetics in Medicine · 2019 · 29 citations · Full text

Developmental Anomaly, Clinical Scoring System, Diagnosis +4

Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum

Ilse Meerschaut, Aude Beyens, Wouter Steyaert et al. · American Journal of Medical Genetics Part A · 2019 · 26 citations

Severe congenital neutropenia with neurological impairment due to a homozygous <i>VPS45</i> p.E238K mutation: A case report suggesting a genotype–phenotype correlation

Ilse Meerschaut, Victoria Bordon, Catharina Dhooge et al. · American Journal of Medical Genetics Part A · 2015 · 22 citations