Lista de obras - Peer Arts - Dominio Público Uruguay

A de novo paradigm for mental retardation.

artículo científico publicado en 2010

A missense mutation underlies defective SOCS4 function in a family with autoimmunity.

artículo científico publicado en 2015

A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability

scientific article published on 03 June 2020

A systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasis

scientific article published on 01 June 2019

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

artículo científico publicado en 2010

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

artículo científico publicado en 2010

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

artículo científico publicado en 2019

Functional genomics identifies type I interferon pathway as central for host defense against Candida albicans

artículo científico publicado en 2013

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder

artículo científico publicado en 2014

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6

scientific article published on 14 November 2019

Immunologic defects in severe mucocutaneous HSV-2 infections: Response to IFN-γ therapy

artículo científico publicado en 2016

Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses

artículo científico publicado en 2021

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

artículo científico publicado en 2013

MST1R mutation as a genetic cause of Lady Windermere syndrome

artículo científico publicado en 2017

Massively parallel sequencing of ataxia genes after array-based enrichment

artículo científico publicado en 2010

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy

artículo científico publicado en 2010

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome

artículo científico publicado en 2020

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis

scientific article published on 27 January 2020

RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML

scientific article published on 01 March 2020

Rare NOX3 Variants Confer Susceptibility to Agranulocytosis During Thyrostatic Treatment of Graves' Disease.

artículo científico publicado en 2017

Rare genetic variants in interleukin-37 link this anti-inflammatory cytokine to the pathogenesis and treatment of gout

artículo científico publicado en 2020

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis

artículo científico publicado en 2011

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

artículo científico publicado en 2010

The mutational burden of therapy-related myeloid neoplasms is similar to primary myelodysplastic syndrome but has a distinctive distribution

artículo científico publicado en 2019

Lista de obras de Peer Arts

A de novo paradigm for mental retardation.

A missense mutation underlies defective SOCS4 function in a family with autoimmunity.

A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability

A systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasis

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Functional genomics identifies type I interferon pathway as central for host defense against Candida albicans

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6

Immunologic defects in severe mucocutaneous HSV-2 infections: Response to IFN-γ therapy

Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

MST1R mutation as a genetic cause of Lady Windermere syndrome

Massively parallel sequencing of ataxia genes after array-based enrichment

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis

RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML

Rare NOX3 Variants Confer Susceptibility to Agranulocytosis During Thyrostatic Treatment of Graves' Disease.

Rare genetic variants in interleukin-37 link this anti-inflammatory cytokine to the pathogenesis and treatment of gout

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

The mutational burden of therapy-related myeloid neoplasms is similar to primary myelodysplastic syndrome but has a distinctive distribution