Lista de obras - Gijs van Haaften - Dominio Público Uruguay

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

Cantú syndrome resulting from activating mutation in the KCNJ8 gene

artículo científico publicado en 2014

Clinical utility gene card for: Cantú syndrome

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Dominant missense mutations in ABCC9 cause Cantú syndrome.

artículo científico publicado en 2012

E2F mediates enhanced alternative polyadenylation in proliferation

artículo científico publicado en 2012

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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.

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Further confirmation of the MED13L haploinsufficiency syndrome

artículo científico publicado en 2014

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

artículo científico publicado en 2015

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2004

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2006

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

artículo científico publicado en 2003

Joubert syndrome: genotyping a Northern European patient cohort

artículo científico publicado en 2015

Loss of syntaxin 3 causes variant microvillus inclusion disease

artículo científico publicado en 2014

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

artículo científico publicado en 2015

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

artículo científico publicado en 2015

Monocarboxylate transporter 1 deficiency and ketone utilization

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2020

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

artículo científico publicado en 2007

Rapid prenatal testing using semiconductor sequencing?

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2007

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

artículo científico publicado en 2012

Tumorigenicity of the miR-17-92 cluster distilled

artículo científico publicado en 2010

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

artículo científico publicado en 2018

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

artículo científico publicado en 2012

Lista de obras de 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