Ilse Meerschaut

发表

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

A. De Paepe, W. Steyaert, B. Callewaert, 2018, Circulation. Genomic and precision medicine.

Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNA

D. De Wolf, W. Steyaert, B. Callewaert, 2022, Genes.

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

B. Papsin, R. Zechi-Ceide, N. M. Kokitsu-Nakata, 2022, Human mutation.

Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects

C. Mercer, N. Brunetti‐Pierri, M. Lindsay, 2022, American journal of medical genetics. Part A.

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

C. Klein, A. Simon, R. Kooy, 2015, American journal of medical genetics. Part A.

A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome

B. Menten, D. De Wolf, B. Callewaert, 2021, Genes.

FOXP1-related intellectual disability syndrome: a recognisable entity

J. Sebat, C. Corsello, T. de Ravel, 2017, Journal of Medical Genetics.

A clinical scoring system for congenital contractural arachnodactyly

A. Green, Alison M. Male, F. McKenzie, 2019, Genetics in Medicine.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, J. Constantino, J. Graham, 2023, Science advances.

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

D. De Wolf, T. D. de Backer, S. Janssens, 2019, American journal of medical genetics. Part A.