Lista de obras -

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

artículo científico publicado en 2020

A meta-analysis of genome-wide association studies identifies multiple longevity genes

scientific article published on 14 August 2019

ABCA7 rare variants and Alzheimer disease risk

artículo científico publicado en 2016

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Association study of the GAB2 gene with the risk of developing Alzheimer's disease

artículo científico publicado en 2008

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

artículo científico publicado en 2020

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

artículo científico publicado en 2015

Complex relationship between Parkin mutations and Parkinson disease

artículo científico publicado en 2002

Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

artículo científico publicado en 2017

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

artículo científico publicado en 2019

Corrigendum re “Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma” [Eur Urol 2017;72:747–54]

scholarly article published in European Urology

ELOVL5 mutations cause spinocerebellar ataxia 38

artículo científico publicado en 2014

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia

artículo científico publicado en 2015

Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma ⬇️

artículo científico publicado en 2017

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

artículo científico publicado en 2019

Genome-wide association study identifies multiple risk loci for renal cell carcinoma ⬇️

artículo científico publicado en 2017

Identification and characterization of two functional variants in the human longevity gene FOXO3.

artículo científico publicado en 2017

Immunochip analysis identifies association of the RAD50/IL13 region with human longevity

artículo científico publicado en 2016

Insights into human genetic variation and population history from 929 diverse genomes

artículo científico publicado en 2020

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

scientific article published on 11 September 2020

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

scientific journal article

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia

artículo científico publicado en 2014

Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism

artículo científico publicado en 2015

Meta-analysis of genetic association with diagnosed Alzheimer's disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing

Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development

artículo científico publicado en 2022

Operational tolerance after hematopoietic stem cell transplantation is characterized by distinct transcriptional, phenotypic, and metabolic signatures

artículo científico publicado en 2022

PIntMF: Penalized Integrative Matrix Factorization method for multi-omics data

artículo científico publicado en 2021

Publisher Correction: Identification and characterization of two functional variants in the human longevity gene FOXO3.

artículo científico publicado en 2018

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

scientific article published on 15 August 2019

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

artículo científico publicado en 2017

Sex specific associations in genome wide association analysis of renal cell carcinoma

scientific article published on 23 June 2019

The influence of obesity-related factors in the etiology of renal cell carcinoma-A mendelian randomization study ⬇️

scientific article published on 03 January 2019

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

scientific article published on 29 October 2019

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

article

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

artículo científico publicado en 2020

Lista de obras de

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

A meta-analysis of genome-wide association studies identifies multiple longevity genes

ABCA7 rare variants and Alzheimer disease risk

Analysis of shared heritability in common disorders of the brain

Association study of the GAB2 gene with the risk of developing Alzheimer's disease

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

Complex relationship between Parkin mutations and Parkinson disease

Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

Corrigendum re “Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma” [Eur Urol 2017;72:747–54]

ELOVL5 mutations cause spinocerebellar ataxia 38

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia

Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma ⬇️

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Genome-wide association study identifies multiple risk loci for renal cell carcinoma ⬇️

Identification and characterization of two functional variants in the human longevity gene FOXO3.

Immunochip analysis identifies association of the RAD50/IL13 region with human longevity

Insights into human genetic variation and population history from 929 diverse genomes

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia

Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism

Meta-analysis of genetic association with diagnosed Alzheimer's disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing

Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development

Operational tolerance after hematopoietic stem cell transplantation is characterized by distinct transcriptional, phenotypic, and metabolic signatures

PIntMF: Penalized Integrative Matrix Factorization method for multi-omics data

Publisher Correction: Identification and characterization of two functional variants in the human longevity gene FOXO3.

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Sex specific associations in genome wide association analysis of renal cell carcinoma

The influence of obesity-related factors in the etiology of renal cell carcinoma-A mendelian randomization study ⬇️

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing