Candy Kumps

Gent, VLG, Belgium

Last Updated: 09/26/2026

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Found 29 publications

ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis).

ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis).

Journal: European journal of human genetics : EJHG

Published: October 22, 2025

Cracking rare disorders: a new minimally invasive RNA-seq protocol.

Cracking rare disorders: a new minimally invasive RNA-seq protocol.

Journal: NPJ genomic medicine

Published: November 18, 2024

Prenatal Diagnosis of Warsaw Breakage Syndrome: Fetal Compound Heterozygous Variants in the DDX11 Gene Associated With Growth Restriction, Cerebral, and Extra-Cerebral Malformations.

Prenatal Diagnosis of Warsaw Breakage Syndrome: Fetal Compound Heterozygous Variants in the DDX11 Gene Associated With Growth Restriction, Cerebral, and Extra-Cerebral Malformations.

Journal: Prenatal diagnosis

Published: July 23, 2024

RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.

RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 28, 2024

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

Journal: American journal of human genetics

Published: December 08, 2023

Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown-Rahman syndrome.

Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown-Rahman syndrome.

Journal: European journal of human genetics : EJHG

Published: August 16, 2023

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

Journal: Clinical genetics

Published: April 14, 2022

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.

Journal: Human genetics

Published: August 06, 2021

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.

Journal: Human genetics

Published: November 30, 2020

Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.

Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.

Journal: Clinical genetics

Published: November 02, 2020

IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?

IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?

Journal: Clinical genetics

Published: October 03, 2020

Phenotyping nocturnal polyuria: circadian and age-related variations in diuresis rate, free water clearance and sodium clearance.

Phenotyping nocturnal polyuria: circadian and age-related variations in diuresis rate, free water clearance and sodium clearance.

Journal: Age and ageing

Published: September 12, 2019

Showing 1-12 of 29

Last Updated: 09/26/2026