List of works - Lídia Feliubadaló

Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.

scientific article published in March 1999

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

scientific article

The genetics of heteromeric amino acid transporters

scientific article

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

scientific article

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

scientific article published on 15 February 2018

Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria

article

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

scientific article published on 7 September 2016

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article published on 20 February 2012

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

scientific article

Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.

scientific article published on 15 July 2003

Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

scientific article published on 22 July 2010

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

scientific article published on 01 September 2019

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

scientific article published on 04 January 2017

Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes

article

Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes.

scientific article

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape

scientific article

Functional and structural analysis of C-terminal BRCA1 missense variants

scientific article

Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families.

scientific article

Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studies

scientific article published in September 2007

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

scientific article

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

scientific article published in May 2015

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.

scientific article

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

scientific article

Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.

scientific article published on 2 June 2017

Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1.

scientific article published in September 1999

Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels

scientific article published on 15 April 2019

Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers

scientific article published on 16 September 2019

The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.

scientific article published on 8 August 2013

Identification of a founder BRCA1 mutation in the Moroccan population.

scientific article

Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA

scientific article published on 16 January 2016

ICO amplicon NGS data analysis: a Web tool for variant detection in common high-risk hereditary cancer genes analyzed by amplicon GS Junior next-generation sequencing

scientific article

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

scientific article

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

scientific article published on 13 November 2019

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

scientific article published on 01 April 2019

Identification of a new complex rearrangement affecting exon 20 of BRCA1.

scientific article published on 15 July 2011

Comments on: Sluiter MD and van Rensburg EJ, Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation

scientific article published on 13 August 2010

Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

scientific article published on 22 December 2018

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition

scientific article published on 4 January 2018

BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.

scientific article

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

scientific article published on 19 June 2019

Figure 6 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

scientific article published on 11 January 2022

Supplementary Methods 1 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Figure 5 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val)

scientific article published on 13 August 2018

Evaluation of CNV detection tools for NGS panel data in genetic diagnostics

scientific article published on 19 June 2020

A decade of RAD51C and RAD51D germline variants in cancer

scientific article published on 30 December 2021

ENIGMACHEK2gether Project: A Comprehensive Study Identifies Functionally ImpairedCHEK2Germline Missense Variants Associated with Increased Breast Cancer Risk

List of works by Lídia Feliubadaló

Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

The genetics of heteromeric amino acid transporters

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.

Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes

Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes.

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape

Functional and structural analysis of C-terminal BRCA1 missense variants

Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families.

Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studies

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.

Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1.

Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels

Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers

The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.

Identification of a founder BRCA1 mutation in the Moroccan population.

Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA

ICO amplicon NGS data analysis: a Web tool for variant detection in common high-risk hereditary cancer genes analyzed by amplicon GS Junior next-generation sequencing

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

Identification of a new complex rearrangement affecting exon 20 of BRCA1.

Comments on: Sluiter MD and van Rensburg EJ, Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation

Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition

BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

Figure 6 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

Supplementary Methods 1 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk

Figure 5 from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk

Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val)

Evaluation of CNV detection tools for NGS panel data in genetic diagnostics

A decade of RAD51C and RAD51D germline variants in cancer

ENIGMACHEK2gether Project: A Comprehensive Study Identifies Functionally ImpairedCHEK2Germline Missense Variants Associated with Increased Breast Cancer Risk

Figure 6 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk

Supplementary Methods 1 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk

Figure 5 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk