List of works - Peer Arts

A de novo paradigm for mental retardation

scientific article published on 14 November 2010

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

scientific article published on 10 March 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

scientific article

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

scientific article

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

scientific article published on 17 June 2019

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

scientific article published on January 2013

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

scientific article published on 11 December 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

scientific article published on 7 April 2016

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

scientific article published on 25 May 2021

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

scientific article published on 26 April 2013

MST1R mutation as a genetic cause of Lady Windermere syndrome

scientific article published on 18 January 2017

Massively parallel sequencing of ataxia genes after array-based enrichment

scientific article

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

scientific article

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

scientific article published on 06 March 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.

scientific article published on 9 May 2017

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

scientific article published on 29 February 2020

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis

scientific article

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

scientific article

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

scientific article published on 14 May 2019

List of works by 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