Ilse Meerschaut
Publications by Year
Research Areas
Connective tissue disorders research, Congenital heart defects research, Congenital limb and hand anomalies, Genomics and Rare Diseases, Congenital Heart Disease Studies
Most-Cited Works
- → FOXP1-related intellectual disability syndrome: a recognisable entity(2017)78 cited
- → Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome(2018)30 cited
- → A clinical scoring system for congenital contractural arachnodactyly(2019)29 cited
- → Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum(2019)26 cited
- → Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype–phenotype correlation(2015)22 cited
- → Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice(2023)17 cited
- → Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases(2022)14 cited
- → Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects(2022)10 cited
- → Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNA(2022)10 cited
- → Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations(2024)9 cited