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BRAF V600E Detection in Liquid Biopsies from Pediatric Central Nervous System Tumors

Cancers, 2019-12, Vol.12 (1), p.66

2019

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Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events

BMC medical genetics, 2011-10, Vol.12 (1), p.138-138, Article 138

2011

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Genetic, environmental and life-style factors associated with longevity. Protocol and response of the LONGECYL Study

Gaceta sanitaria, 2022-05, Vol.36 (3), p.260-264

2022

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A crowdsourcing database for the copy-number variation of the Spanish population

Human genomics, 2023-03, Vol.17 (1), p.20-20, Article 20

2023

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The PNPLA3 Genetic Variant rs738409 Influences the Progression to Cirrhosis in HIV/Hepatitis C Virus Coinfected Patients

PloS one, 2016-12, Vol.11 (12), p.e0168265-e0168265

2016

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Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease

BMC medical genetics, 2010-05, Vol.11 (1), p.71-71, Article 71

2010

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Contributions of PHOX2B in the pathogenesis of Hirschsprung disease

PloS one, 2013-01, Vol.8 (1), p.e54043-e54043

2013

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Comprehensive analysis of NRG1 common and rare variants in Hirschsprung patients

PloS one, 2012-05, Vol.7 (5), p.e36524-e36524

2012

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POLRMT as a Novel Susceptibility Gene for Cardiotoxicity in Epirubicin Treatment of Breast Cancer Patients

Pharmaceutics, 2021-11, Vol.13 (11), p.1942

2021

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Expression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR

PloS one, 2011-08, Vol.6 (8), p.e23475-e23475

2011

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miARma-Seq: a comprehensive tool for miRNA, mRNA and circRNA analysis

Scientific reports, 2016-05, Vol.6 (1), p.25749-25749, Article 25749

2016

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Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women

The New England journal of medicine, 2021-02, Vol.384 (5), p.428-439

2021

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Association of X‐linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM gene

American journal of medical genetics. Part A, 2012-04, Vol.158A (4), p.816-820

2012

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Association Between ABCB1 Genetic Variants and Persistent Chemotherapy-Induced Alopecia in Women With Breast Cancer

JAMA dermatology (Chicago, Ill.), 2020-09, Vol.156 (9), p.987

2020

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Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region

BMC medical genetics, 2010-09, Vol.11 (1), p.137-137, Article 137

2010

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Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease

Orphanet journal of rare diseases, 2012-12, Vol.7 (1), p.103-103, Article 103

2012

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Hepatitis C virus reinfection after sustained virological response in HIV-infected patients with chronic hepatitis C

The Journal of infection, 2015-11, Vol.71 (5), p.571-577

2015

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A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique

BMC medical genetics, 2009-11, Vol.10 (1), p.119-119, Article 119

2009

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A Comprehensive Analysis of 21 Actionable Pharmacogenes in the Spanish Population: From Genetic Characterisation to Clinical Impact

Pharmaceutics, 2023-04, Vol.15 (4), p.1286

2023

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Regulatory CDH4 Genetic Variants Associate With Risk to Develop Capecitabine‐Induced Hand‐Foot Syndrome

Clinical pharmacology and therapeutics, 2021-02, Vol.109 (2), p.462-470

2021

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Health and wellbeing status of the long-lived individuals of the Spanish LONGECYL cross-sectional study

Archives of public health = Archives belges de santé publique, 2024-05, Vol.82 (1), p.77-77, Article 77

2024

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Reassessment of genotype 1 hepatitis C virus subtype misclassification by LiPA 2.0: implications for direct-acting antiviral treatment

Journal of clinical microbiology, 2014-11, Vol.52 (11), p.4027-4029

2014

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GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

Nature (London), 2023-05, Vol.617 (7962), p.764-3

2023

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BRAF V600E Detection in Liquid Biopsies from Pediatric Central Nervous System Tumors

Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events

Genetic, environmental and life-style factors associated with longevity. Protocol and response of the LONGECYL Study

A crowdsourcing database for the copy-number variation of the Spanish population

The PNPLA3 Genetic Variant rs738409 Influences the Progression to Cirrhosis in HIV/Hepatitis C Virus Coinfected Patients

Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease

A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility

Contributions of PHOX2B in the pathogenesis of Hirschsprung disease

Comprehensive analysis of NRG1 common and rare variants in Hirschsprung patients

POLRMT as a Novel Susceptibility Gene for Cardiotoxicity in Epirubicin Treatment of Breast Cancer Patients

Expression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR

miARma-Seq: a comprehensive tool for miRNA, mRNA and circRNA analysis

Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women

CSVS, a crowdsourcing database of the Spanish population genetic variability

Association of X‐linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM gene

Association Between ABCB1 Genetic Variants and Persistent Chemotherapy-Induced Alopecia in Women With Breast Cancer

Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region

Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease

Hepatitis C virus reinfection after sustained virological response in HIV-infected patients with chronic hepatitis C

A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique

A Comprehensive Analysis of 21 Actionable Pharmacogenes in the Spanish Population: From Genetic Characterisation to Clinical Impact

Regulatory CDH4 Genetic Variants Associate With Risk to Develop Capecitabine‐Induced Hand‐Foot Syndrome

Health and wellbeing status of the long-lived individuals of the Spanish LONGECYL cross-sectional study

Reassessment of genotype 1 hepatitis C virus subtype misclassification by LiPA 2.0: implications for direct-acting antiviral treatment

GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

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