List of works - Valerie Arboleda

A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing

scientific article published on 23 February 2016

Caspase function in neuronal death: delineation of the role of caspases in ischemia

scientific article

Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis

scientific article

DSDs: genetics, underlying pathologies and psychosexual differentiation

scientific article published on 5 August 2014

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay

scientific article

Disorders of Sex Development

article

Disorders of Sex Development

Ensuring the Quality of Point-of-Care Testing in a Large and Decentralized Ambulatory Care Setting.

scientific article

Exome sequencing for the diagnosis of 46,XY disorders of sex development.

scientific article

From chemoproteomic-detected amino acids to genomic coordinates: insights into precise multi-omic data integration

scientific article published on 01 February 2021

Highly efficient small interfering RNA delivery to primary mammalian neurons induces MicroRNA-like effects before mRNA degradation.

scientific article published in November 2004

Identification of SOX3 as an XX male sex reversal gene in mice and humans

scientific article

Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis

scientific article published on 23 September 2018

Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model

scientific article published on 30 January 2018

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

scientific article published on 24 September 2018

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration

scientific journal article

Lymphoma and gout coexisting in the same joint fluid

scientific article published in May 2015

MicroRNA-146a modulates B-cell oncogenesis by regulating Egr1.

scientific article published on May 2015

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

scientific article

Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase

scientific article

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

scientific article published on 14 September 2021

Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits

article

Regulation of sex determination in mice by a non-coding genomic region

scientific article

Sex-Specific Effects of Testosterone on the Sexually Dimorphic Transcriptome and Epigenome of Embryonic Neural Stem/Progenitor Cells

scientific article published on 15 November 2016

Swab-Seq: A high-throughput platform for massively scaled up SARS-CoV-2 testing

scientific article published on 03 September 2020

The evolution of the search for novel genes in mammalian sex determination: from mice to men

scientific article

List of works by Valerie Arboleda

A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing

Caspase function in neuronal death: delineation of the role of caspases in ischemia

Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis

DSDs: genetics, underlying pathologies and psychosexual differentiation

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay

Disorders of Sex Development

Disorders of Sex Development

Disorders of Sex Development

Ensuring the Quality of Point-of-Care Testing in a Large and Decentralized Ambulatory Care Setting.

Exome sequencing for the diagnosis of 46,XY disorders of sex development.

From chemoproteomic-detected amino acids to genomic coordinates: insights into precise multi-omic data integration

Highly efficient small interfering RNA delivery to primary mammalian neurons induces MicroRNA-like effects before mRNA degradation.

Identification of SOX3 as an XX male sex reversal gene in mice and humans

Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis

Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration

Lymphoma and gout coexisting in the same joint fluid

MicroRNA-146a modulates B-cell oncogenesis by regulating Egr1.

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits

Regulation of sex determination in mice by a non-coding genomic region

Sex-Specific Effects of Testosterone on the Sexually Dimorphic Transcriptome and Epigenome of Embryonic Neural Stem/Progenitor Cells

Swab-Seq: A high-throughput platform for massively scaled up SARS-CoV-2 testing

The evolution of the search for novel genes in mammalian sex determination: from mice to men