Lista de obras - Matias Wagner - Dominio Público Uruguay

A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders

artículo científico publicado en 2019

A De Novo Missense Variant in POU3F2 Identified in a Child with Global Developmental Delay

scientific article published on 10 September 2018

A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome

artículo científico publicado en 2018

A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy

artículo científico publicado en 2020

Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing

scientific article published on 25 June 2019

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function

article

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

scientific article published on 21 October 2019

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course

artículo científico publicado en 2019

Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related Epilepsy

artículo científico publicado en 2017

Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis

artículo científico publicado en 2020

CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph

artículo científico publicado en 2021

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

artículo científico publicado en 2019

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

scientific article published on 27 December 2018

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

artículo científico publicado en 2020

Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia

artículo científico publicado en 2019

First replication that biallelic variants in FITM2 cause a complex deafness-dystonia syndrome

article

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility

scientific article published on 30 January 2020

Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach

artículo científico publicado en 2019

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

artículo científico publicado en 2022

Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene

artículo científico publicado en 2017

Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles.

artículo científico publicado en 2017

Identification of co-occurrence in a patient with Dent's disease and ADA2-deficiency by exome sequencing.

artículo científico publicado en 2018

Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS

scientific article published on 04 September 2020

Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing

scientific article published on 28 March 2019

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

artículo científico publicado en 2020

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

artículo científico publicado en 2021

Low Voice, Spasmodic Dysphonia, and Hand Dystonia as Clinical Clues for KMT2B-Associated Early-Onset Dystonia

artículo científico publicado en 2018

Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.

artículo científico publicado en 2017

Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.

artículo científico publicado en 2017

Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review

artículo científico publicado en 2020

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

scientific article published on 09 November 2020

Presymptomatic late-onset Pompe disease identified by the dried blood spot test

artículo científico publicado en 2012

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

scientific article published on 30 April 2019

[Exome diagnostics in neurology]

scientific article published on 01 February 2019

Lista de obras de Matias Wagner

A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders

A De Novo Missense Variant in POU3F2 Identified in a Child with Global Developmental Delay

A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome

A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy

Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course

Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related Epilepsy

Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis

CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia

First replication that biallelic variants in FITM2 cause a complex deafness-dystonia syndrome

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility

Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene

Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles.

Identification of co-occurrence in a patient with Dent's disease and ADA2-deficiency by exome sequencing.

Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS

Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Low Voice, Spasmodic Dysphonia, and Hand Dystonia as Clinical Clues for KMT2B-Associated Early-Onset Dystonia

Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.

Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.

Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

Presymptomatic late-onset Pompe disease identified by the dried blood spot test

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

[Exome diagnostics in neurology]