List of works - Gijs van Haaften

A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder

scientific article published on 05 December 2019

A versatile microsatellite instability reporter system in human cells

scientific article published on 16 July 2013

Application of exome sequencing in the search for genetic causes of rare disorders of copper metabolism

scientific article published on 04 May 2012

Cantú syndrome resulting from activating mutation in the KCNJ8 gene

scientific article

Clinical utility gene card for: Cantú syndrome

scientific article

Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).

scientific article published on 17 August 2016

Dominant missense mutations in ABCC9 cause Cantú syndrome.

scientific article

E2F mediates enhanced alternative polyadenylation in proliferation

scientific article

Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders

scientific article published on 18 October 2018

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.

scientific article

Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

scientific article published on 20 November 2013

Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.

scientific article published on 2 April 2015

Further confirmation of the MED13L haploinsufficiency syndrome

scientific article

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

scientific article published on September 2015

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

scientific article published on 26 November 2014

Gene interactions in the DNA damage-response pathway identified by genome-wide RNA-interference analysis of synthetic lethality

scholarly article

Genome-wide RNA interference screen identifies previously undescribed regulators of polyglutamine aggregation

scientific article

Genomic instability and cancer: scanning the Caenorhabditis elegans genome for tumor suppressors

scientific article

Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control

scientific article published on 18 September 2017

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

scientific article

Identification of conserved pathways of DNA-damage response and radiation protection by genome-wide RNAi

scientific article published on July 2006

Identification of genes that protect the C. elegans genome against mutations by genome-wide RNAi

scientific article

Joubert syndrome: genotyping a Northern European patient cohort

scientific article

Loss of syntaxin 3 causes variant microvillus inclusion disease

scientific article

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.

scientific article

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

scientific article published on 21 October 2015

Monocarboxylate transporter 1 deficiency and ketone utilization

scientific article published in November 2014

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

scientific article published on 9 March 2016

Partner independent fusion gene detection by multiplexed CRISPR-Cas9 enrichment and long read nanopore sequencing

scientific article published on 05 June 2020

RAP-1 and the RAL-1/exocyst pathway coordinate hypodermal cell organization in Caenorhabditis elegans

scientific article

Rapid Prenatal Testing Using Semiconductor Sequencing? ⬇️

scientific article published on March 7, 2013

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

scientific article

Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer

scientific article

The TWIST1 oncogene is a direct target of hypoxia-inducible factor-2α

scientific article published on 17 September 2007

The poly(A)-binding protein nuclear 1 suppresses alternative cleavage and polyadenylation sites.

scientific article

Tumorigenicity of the miR-17-92 cluster distilled

scientific article

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

scientific article

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

scientific article

List of works by Gijs van Haaften

A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder

A versatile microsatellite instability reporter system in human cells

Application of exome sequencing in the search for genetic causes of rare disorders of copper metabolism

Cantú syndrome resulting from activating mutation in the KCNJ8 gene

Clinical utility gene card for: Cantú syndrome

Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).

Dominant missense mutations in ABCC9 cause Cantú syndrome.

E2F mediates enhanced alternative polyadenylation in proliferation

Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.

Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.

Further confirmation of the MED13L haploinsufficiency syndrome

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

Gene interactions in the DNA damage-response pathway identified by genome-wide RNA-interference analysis of synthetic lethality

Genome-wide RNA interference screen identifies previously undescribed regulators of polyglutamine aggregation

Genomic instability and cancer: scanning the Caenorhabditis elegans genome for tumor suppressors

Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

Identification of conserved pathways of DNA-damage response and radiation protection by genome-wide RNAi

Identification of genes that protect the C. elegans genome against mutations by genome-wide RNAi

Joubert syndrome: genotyping a Northern European patient cohort

Loss of syntaxin 3 causes variant microvillus inclusion disease

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

Monocarboxylate transporter 1 deficiency and ketone utilization

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

Partner independent fusion gene detection by multiplexed CRISPR-Cas9 enrichment and long read nanopore sequencing

RAP-1 and the RAL-1/exocyst pathway coordinate hypodermal cell organization in Caenorhabditis elegans

Rapid Prenatal Testing Using Semiconductor Sequencing? ⬇️

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer

The TWIST1 oncogene is a direct target of hypoxia-inducible factor-2α

The poly(A)-binding protein nuclear 1 suppresses alternative cleavage and polyadenylation sites.

Tumorigenicity of the miR-17-92 cluster distilled

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face