Ilse Meerschaut
- ORCID iD
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0000-0001-5502-0568
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- Journal Article
- A1
- open access
Exploring the mutational landscape of isolated congenital heart defects : an exome sequencing study using cardiac DNA
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- Journal Article
- A1
- open access
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
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Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects
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Expanding the phenotypic and molecular landscape of syndromic and isolated congenital heart defects : a future for phenotype-first and genotype-first approaches
(2021) -
- Journal Article
- A1
- open access
A reassessment of copy number variations in congenital heart defects : picturing the whole genome
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A clinical scoring system for congenital contractural arachnodactyly
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Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum
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Two novel probands with Myhre syndrome identified through WES
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Delineation of a clinical scoring system and diagnostic criteria for CCA
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- Journal Article
- A1
- open access
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 : proposal for a disease- and gene-specific guideline