List of works - Marcelo A Carvalho

A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor

scientific article published on 01 November 2019

A guide for functional analysis of BRCA1 variants of uncertain significance

scientific article

Acidic pH modulates the interaction between human granulocyte-macrophage colony-stimulating factor and glycosaminoglycans.

scientific article published in October 1999

Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1

scientific article published on 17 October 2008

BRCA1 Circos: a visualisation resource for functional analysis of missense variants

scientific article

Correction: functional analysis of BRCA1 M1628V variant.

scientific article published on 20 February 2007

DNA repair genes PAXIP1 and TP53BP1 expression is associated with breast cancer prognosis

scientific article published on 5 May 2017

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis

scientific article

Functional assays for BRCA1 and BRCA2.

scientific article published on 18 August 2006

Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

scientific article published on 02 March 2016

Functional characterization of 84 PALB2 variants of uncertain significance

scientific article published on 21 October 2019

Functional impact of missense variants in BRCA1 predicted by supervised learning

scientific article

Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation

scientific article published on 14 February 2019

Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance

scientific article published on 22 October 2020

Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach

scientific article

Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1

scientific article (publication date: 2014)

Stroma-mediated granulocyte-macrophage colony-stimulating factor (GM-CSF) control of myelopoiesis: spatial organisation of intercellular interactions.

scientific article

Synthetic Organotellurium Compounds Sensitize Drug-Resistant Candida albicans Clinical Isolates to Fluconazole

scientific article published on 7 November 2016

The P1812A and P25T BRCA1 and the 5164del4 BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews.

scientific article published on January 2006

The Role of PALB2 in the DNA Damage Response and Cancer Predisposition.

scientific article published on 31 August 2017

The capacity of connective tissue stromas to sustain myelopoiesis depends both upon the growth factors and the local intercellular environment.

scientific article

List of works by Marcelo A Carvalho

A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor

A guide for functional analysis of BRCA1 variants of uncertain significance

Acidic pH modulates the interaction between human granulocyte-macrophage colony-stimulating factor and glycosaminoglycans.

Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1

BRCA1 Circos: a visualisation resource for functional analysis of missense variants

Correction: functional analysis of BRCA1 M1628V variant.

DNA repair genes PAXIP1 and TP53BP1 expression is associated with breast cancer prognosis

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis

Functional assays for BRCA1 and BRCA2.

Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

Functional characterization of 84 PALB2 variants of uncertain significance

Functional impact of missense variants in BRCA1 predicted by supervised learning

Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation

Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance

Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach

Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1

Stroma-mediated granulocyte-macrophage colony-stimulating factor (GM-CSF) control of myelopoiesis: spatial organisation of intercellular interactions.

Synthetic Organotellurium Compounds Sensitize Drug-Resistant Candida albicans Clinical Isolates to Fluconazole

The P1812A and P25T BRCA1 and the 5164del4 BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews.

The Role of PALB2 in the DNA Damage Response and Cancer Predisposition.

The capacity of connective tissue stromas to sustain myelopoiesis depends both upon the growth factors and the local intercellular environment.