Griet Van Buggenhout

Leuven, VLG 3000, Belgium

Last Updated: 09/26/2026

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Found 23 publications

Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders.

Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders.

Journal: Genome medicine

Published: April 22, 2024

Expanding the phenotype of copy number variations involving NR0B1 (DAX1).

Expanding the phenotype of copy number variations involving NR0B1 (DAX1).

Journal: European journal of human genetics : EJHG

Published: June 24, 2023

Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin.

Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin.

Journal: Science (New York, N.Y.)

Published: May 19, 2022

Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge.

Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge.

Journal: European journal of human genetics : EJHG

Published: April 10, 2022

The developmental impact of sex chromosome trisomies on emerging executive functions in young children: Evidence from neurocognitive tests and daily life skills.

The developmental impact of sex chromosome trisomies on emerging executive functions in young children: Evidence from neurocognitive tests and daily life skills.

Journal: Genes, brain, and behavior

Published: July 27, 2021

Recent developments in Phelan-McDermid syndrome research: an update on cognitive development, communication and psychiatric disorders.

Recent developments in Phelan-McDermid syndrome research: an update on cognitive development, communication and psychiatric disorders.

Journal: Current opinion in psychiatry

Published: December 05, 2020

Neoplasia in Turner syndrome: a retrospective cohort study in a tertiary referral centre in Belgium.

Neoplasia in Turner syndrome: a retrospective cohort study in a tertiary referral centre in Belgium.

Journal: Acta clinica Belgica

Published: August 12, 2020

Cancer Surveillance in Healthy Carriers of Germline Pathogenic Variants in BRCA1/2: A Review of Secondary Prevention Guidelines.

Cancer Surveillance in Healthy Carriers of Germline Pathogenic Variants in BRCA1/2: A Review of Secondary Prevention Guidelines.

Journal: Journal of oncology

Published: March 06, 2020

Stressed parents, happy parents. An assessment of parenting stress and family quality of life in families with a child with Phelan-McDermid syndrome.

Stressed parents, happy parents. An assessment of parenting stress and family quality of life in families with a child with Phelan-McDermid syndrome.

Journal: Journal of applied research in intellectual disabilities : JARID

Published: February 13, 2020

Deep Phenotyping of Development, Communication and Behaviour in Phelan-McDermid Syndrome.

Deep Phenotyping of Development, Communication and Behaviour in Phelan-McDermid Syndrome.

Journal: Molecular syndromology

Published: September 13, 2019

Risk-reducing mastectomy in BRCA carriers: survival is not the issue.

Risk-reducing mastectomy in BRCA carriers: survival is not the issue.

Journal: Breast cancer research and treatment

Published: September 03, 2019

The clinical relevance of intragenic NRXN1 deletions.

The clinical relevance of intragenic NRXN1 deletions.

Journal: Journal of medical genetics

Published: August 02, 2019

Showing 1-12 of 23

Last Updated: 09/26/2026