Lista de obras - Cas Simons - Dominio Público Uruguay

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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.

artículo científico publicado en 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.

artículo científico publicado en 2013

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

artículo científico publicado en 2016

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

artículo científico publicado en 2018

Expression of distinct RNAs from 3' untranslated regions

artículo científico publicado en 2010

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

artículo científico publicado en 2020

Genome sequencing in persistently unsolved white matter disorders

artículo científico publicado en 2020

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

artículo científico publicado en 2019

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2019

Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome

artículo científico publicado en 2019

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

artículo científico publicado en 2020

Long noncoding RNAs in mouse embryonic stem cell pluripotency and differentiation

artículo científico publicado en 2008

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

artículo científico publicado en 2015

Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy

scientific article published on 13 November 2018

Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy

artículo científico publicado en 2015

Maintenance of transposon-free regions throughout vertebrate evolution

artículo científico publicado en 2007

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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

artículo científico publicado en 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.

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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.

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations

artículo científico publicado en 2018

TUBB4A de novo mutations cause isolated hypomyelination

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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.

artículo científico publicado en 2016

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

artículo científico publicado en 2009

Tiny RNAs associated with transcription start sites in animals.

artículo científico publicado en 2009

Tmem2 Regulates Embryonic Vegf Signaling by Controlling Hyaluronic Acid Turnover

artículo científico publicado en 2017

Tmem2 Regulates Embryonic Vegf Signaling by Controlling Hyaluronic Acid Turnover.

artículo científico publicado en 2017

Transposon-free regions in mammalian genomes

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Whole exome sequencing in patients with white matter abnormalities.

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

Lista de obras de 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