List of works - Cas Simons

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

scientific article

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

scientific article

A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder

scientific article published on 21 May 2020

A protocol for the identification and validation of novel genetic causes of kidney disease

scientific article published on 15 September 2015

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

scientific article

Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis

scientific article published on 08 June 2018

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

scientific article published on 08 February 2019

Cerebral hypomyelination associated with biallelic variants of FIG4

scientific article published on 28 February 2019

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction

scientific article

Corrigendum: Tiny RNAs associated with transcription start sites in animals

scholarly article published in Nature Genetics

DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder

scientific article

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

scientific article published on 18 July 2019

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

scientific article published on 01 September 2019

Effect of 5'UTR introns on gene expression in Arabidopsis thaliana.

scientific article published on 19 May 2006

Erratum: Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

article

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

scientific article

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

scientific article published on 27 June 2016

Expression Pattern of the Aspartyl-tRNA Synthetase DARS in the Human Brain.

scientific article published on 20 March 2018

Expression of distinct RNAs from 3' untranslated regions

scientific article

Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus

scientific article published on 09 July 2020

Genome sequencing in persistently unsolved white matter disorders

scientific article published on 07 January 2020

Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy

scientific article published on 03 October 2019

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation

scientific article

Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches

scientific article published on 01 December 2018

Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy

scientific article

Isolated proteinuria due to CUBN homozygous mutation - challenging the investigative paradigm

scientific article published on 22 August 2019

Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome

scientific article published on 11 January 2019

Localised Collagen2a1 secretion supports lymphatic endothelial cell migration in the zebrafish embryo

scientific article published on 24 August 2020

Long noncoding RNAs in mouse embryonic stem cell pluripotency and differentiation

scientific article

Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect

scientific article

Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy

scientific article published on 13 November 2018

Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy

scientific article

Maintenance of transposon-free regions throughout vertebrate evolution

scientific article

Multi-omic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10

scientific article published on 10 November 2020

Mural lymphatic endothelial cells regulate meningeal angiogenesis in the zebrafish.

scientific article published on May 2017

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

scientific article

Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy

scientific article

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

scientific article published on 24 November 2014

Myosin Vb is required for correct trafficking of N‐cadherin and cardiac chamber ballooning

scientific article published on 19 March 2019

Nuclear-localized tiny RNAs are associated with transcription initiation and splice sites in metazoans.

scientific article published on 11 July 2010

Orthologous microRNA genes are located in cancer-associated genomic regions in human and mouse

scientific article

Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation

scientific article published on 14 August 2019

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

scientific article published on 13 September 2016

Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient

scientific article

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

scientific article published on 31 May 2018

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

scientific article published on 7 July 2015

Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot

scientific article published on 12 February 2018

Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations

scientific article published on 14 April 2018

TUBB4A de novo mutations cause isolated hypomyelination

scientific article

TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes

scientific article

The Alternative Splicing Regulator Nova2 Constrains Vascular Erk Signaling to Limit Specification of the Lymphatic Lineage

scientific article published on 01 April 2019

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

scientific article published on 13 July 2016

The transcriptional network that controls growth arrest and differentiation in a human myeloid leukemia cell line.

scientific article

Tiny RNAs associated with transcription start sites in animals

scientific article published on 19 April 2009

Tmem2 Regulates Embryonic Vegf Signaling by Controlling Hyaluronic Acid Turnover

scientific article published on 01 February 2017

Tmem2 Regulates Embryonic Vegf Signaling by Controlling Hyaluronic Acid Turnover.

scientific article published on January 2017

Transposon-free regions in mammalian genomes

scientific article published on 19 December 2005

Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform

scientific article published on 03 March 2020

Utilising polymorphisms to achieve allele-specific genome editing in zebrafish.

scientific article

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

scientific article

Whole exome sequencing in patients with white matter abnormalities.

scientific article published on 09 May 2016

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.

scientific article published on 26 August 2017

mafba is a downstream transcriptional effector of Vegfc signaling essential for embryonic lymphangiogenesis in zebrafish

scientific article

List of works by Cas Simons

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder

A protocol for the identification and validation of novel genetic causes of kidney disease

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

Cerebral hypomyelination associated with biallelic variants of FIG4

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction

Corrigendum: Tiny RNAs associated with transcription start sites in animals

DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

Effect of 5'UTR introns on gene expression in Arabidopsis thaliana.

Erratum: Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

Expression Pattern of the Aspartyl-tRNA Synthetase DARS in the Human Brain.

Expression of distinct RNAs from 3' untranslated regions

Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus

Genome sequencing in persistently unsolved white matter disorders

Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation

Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches

Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy

Isolated proteinuria due to CUBN homozygous mutation - challenging the investigative paradigm

Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome

Localised Collagen2a1 secretion supports lymphatic endothelial cell migration in the zebrafish embryo

Long noncoding RNAs in mouse embryonic stem cell pluripotency and differentiation

Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect

Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy

Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy

Maintenance of transposon-free regions throughout vertebrate evolution

Multi-omic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10

Mural lymphatic endothelial cells regulate meningeal angiogenesis in the zebrafish.

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

Myosin Vb is required for correct trafficking of N‐cadherin and cardiac chamber ballooning

Nuclear-localized tiny RNAs are associated with transcription initiation and splice sites in metazoans.

Orthologous microRNA genes are located in cancer-associated genomic regions in human and mouse

Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot

Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations

TUBB4A de novo mutations cause isolated hypomyelination

TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes

The Alternative Splicing Regulator Nova2 Constrains Vascular Erk Signaling to Limit Specification of the Lymphatic Lineage

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

The transcriptional network that controls growth arrest and differentiation in a human myeloid leukemia cell line.

Tiny RNAs associated with transcription start sites in animals

Tmem2 Regulates Embryonic Vegf Signaling by Controlling Hyaluronic Acid Turnover

Tmem2 Regulates Embryonic Vegf Signaling by Controlling Hyaluronic Acid Turnover.

Transposon-free regions in mammalian genomes

Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform

Utilising polymorphisms to achieve allele-specific genome editing in zebrafish.

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

Whole exome sequencing in patients with white matter abnormalities.

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.

mafba is a downstream transcriptional effector of Vegfc signaling essential for embryonic lymphangiogenesis in zebrafish