List of works - Koenraad Devriendt

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo

scientific article published on 08 August 2018

Autosomal recessive primary microcephaly due to ASPM mutations: An update

scientific article

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

scientific article

Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings.

scientific article published on 22 January 2018

Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

scientific article

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease

scientific article

Deletions and loss-of-function variants in TP63 associated with orofacial clefting

scientific article published on 08 March 2019

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

scientific article

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

scientific article published on 05 October 2018

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

scientific article published on 9 May 2016

Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

scientific article published on 14 June 2019

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity

scientific article published on 23 October 2019

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

scientific article

PEDIA: prioritization of exome data by image analysis

scientific article published on 05 June 2019

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

scientific article

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

Prenatally detected copy number variants in a national cohort: a postnatal follow-up study

scientific article published on 21 May 2020

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

scientific article

Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy

scientific article published on 10 October 2017

The BElgian PREnatal MicroArray (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations

article

Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20

scientific article published on 04 October 2019

List of works by Koenraad Devriendt

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo

Autosomal recessive primary microcephaly due to ASPM mutations: An update

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings.

Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease

Deletions and loss-of-function variants in TP63 associated with orofacial clefting

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

PEDIA: prioritization of exome data by image analysis

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

Prenatally detected copy number variants in a national cohort: a postnatal follow-up study

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy

The BElgian PREnatal MicroArray (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations

Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20