List of works - Frans W Verheijen

A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing

scientific article

Androgen receptor function links human sexual dimorphism to DNA methylation

scientific article

Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).

scientific article published on 11 March 2013

Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

scientific article published on 28 August 2019

COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage

scientific article published in January 2009

COL4A2 mutation associated with familial porencephaly and small-vessel disease

scientific article

Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia.

scientific article published on 4 January 2018

Characterisation of Fmrp in zebrafish: evolutionary dynamics of the fmr1 gene

scientific article published on 27 January 2005

Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development

scientific article published on August 2017

Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification

DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.

scientific article

Dried blood spot analysis: an easy and reliable tool to monitor the biochemical effect of hematopoietic stem cell transplantation in hurler syndrome patients.

scientific article published on 21 January 2010

Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience

scientific article published on 08 November 2020

Free sialic acid storage disease without sialuria

scientific article

From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides

scientific article published on 13 September 2016

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

scientific article published on 01 April 2019

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

scientific article published on 20 June 2016

Human mutations in integrator complex subunits link transcriptome integrity to brain development

scientific article

Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots ⬇️

scientific article published on January 22, 2011

Infantile sialic acid storage disease (ISSD): report of the first case detected in Poland

scientific article published on 01 April 2003

Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features.

scientific article published on March 2003

Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15) ⬇️

scientific article published on February 11, 2011

Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I ⬇️

scientific article published on September 18, 2010

Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors

scientific article

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.

scientific article

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype ⬇️

scientific article published on September 18, 2010

Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy

scientific article published on 25 June 2009

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections

scientific article

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

scientific article published on 22 June 2016

Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency

scientific article published on 19 April 2016

Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS.

scientific article

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study ⬇️

scientific article published on January 25, 2012

Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations

scientific article published on 9 December 2012

Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice

scientific article

RTTN mutations link primary cilia function to organization of the human cerebral cortex

scientific article

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

scientific article published on 08 February 2019

Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy.

scientific article published on 20 December 2012

Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?

scientific article published on 19 May 2014

The live-birth prevalence of mucopolysaccharidoses in Estonia

scientific article published on 5 April 2012

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

scientific article published on 23 July 2011

Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome

scientific article published on 12 August 2010

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders

scientific article published in 2023

List of works by Frans W Verheijen

A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing

Androgen receptor function links human sexual dimorphism to DNA methylation

Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).

Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage

COL4A2 mutation associated with familial porencephaly and small-vessel disease

Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia.

Characterisation of Fmrp in zebrafish: evolutionary dynamics of the fmr1 gene

Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development

Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification

DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.

Dried blood spot analysis: an easy and reliable tool to monitor the biochemical effect of hematopoietic stem cell transplantation in hurler syndrome patients.

Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience

Free sialic acid storage disease without sialuria

From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

Human mutations in integrator complex subunits link transcriptome integrity to brain development

Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots ⬇️

Infantile sialic acid storage disease (ISSD): report of the first case detected in Poland

Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features.

Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15) ⬇️

Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I ⬇️

Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype ⬇️

Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency

Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS.

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study ⬇️

Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations

Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice

RTTN mutations link primary cilia function to organization of the human cerebral cortex

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy.

Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?

The live-birth prevalence of mucopolysaccharidoses in Estonia

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders