Anne Destree
Gosselies, WAL, Belgium
Last Updated: 09/26/2026
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Found 27 publications
AUTS2-related syndrome: Insights from a large European cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 28, 2024
Episignature analysis of moderate effects and mosaics.
Journal: European journal of human genetics : EJHG
Published: January 30, 2023
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.
Journal: Journal of medical genetics
Published: August 08, 2022
ASC1 complex related conditions: Two novel paediatric patients with TRIP4 pathogenic variants and review of literature.
Journal: European journal of medical genetics
Published: June 23, 2021
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Journal: Brain : a journal of neurology
Published: March 12, 2021
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
Journal: Molecular genetics & genomic medicine
Published: February 12, 2021
Adult phenotype of KCNQ2 encephalopathy.
Journal: Journal of medical genetics
Published: September 09, 2020
Prenatally detected copy number variants in a national cohort: A postnatal follow-up study.
Journal: Prenatal diagnosis
Published: January 15, 2020
Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 14, 2019
A clinical scoring system for congenital contractural arachnodactyly.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 05, 2019
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.
Journal: Scientific reports
Published: March 01, 2019
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 31, 2019
Last Updated: 09/26/2026