Lista de obras -

A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy

scientific article published on 16 April 2019

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

artículo científico publicado en 2011

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

artículo científico publicado en 2018

A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis

scientific article published on 14 January 2019

A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences

artículo científico publicado en 2016

A rare missense variant in associates with lower cholesterol levels

article published in 2018

A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration

article by Hannes Helgason et al published 15 September 2013 in Nature Genetics

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

artículo científico publicado en 2011

A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer

artículo científico publicado en 2010

A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

artículo científico publicado en 2012

A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin

scientific article published on 17 May 2018

Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin

scientific article published on 01 September 2018

Author Correction: The rate of meiotic gene conversion varies by sex and age

scientific article published on 01 November 2018

COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.

artículo científico publicado en 2017

Characterizing mutagenic effects of recombination through a sequence-level genetic map

artículo científico publicado en 2019

Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase

artículo científico publicado en 2016

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma

artículo científico publicado en 2007

Common variants conferring risk of schizophrenia

artículo científico publicado en 2009

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

artículo científico publicado en 2010

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

artículo científico publicado en 2017

Corrigendum: Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis.

artículo científico publicado en 2017

Description of the EuroTARGET cohort: A European collaborative project on TArgeted therapy in renal cell cancer-GEnetic- and tumor-related biomarkers for response and toxicity.

artículo científico publicado en 2017

Detection of sharing by descent, long-range phasing and haplotype imputation

artículo científico publicado en 2008

Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis

scientific article published on 20 January 2020

Epigenetic and genetic components of height regulation

artículo científico publicado en 2016

Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations

artículo científico publicado en 2017

GORpipe: a query tool for working with sequence data based on a Genomic Ordered Relational (GOR) architecture

artículo científico publicado en 2016

GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

artículo científico publicado en 2019

Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets

artículo científico publicado en 2013

Genetic correction of PSA values using sequence variants associated with PSA levels

artículo científico publicado en 2010

Genome-wide association meta-analysis yields 20 loci associated with gallstone disease

artículo científico publicado en 2018

Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

scientific journal article

Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer

artículo científico publicado en 2014

Graphtyper enables population-scale genotyping using pangenome graphs.

artículo científico publicado en 2017

Identification of a large set of rare complete human knockouts

artículo científico publicado en 2015

Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes

artículo científico publicado en 2014

Identification of low-frequency variants associated with gout and serum uric acid levels

artículo científico publicado en 2011

Identification of sequence variants influencing immunoglobulin levels.

artículo científico publicado en 2017

Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer

artículo científico publicado en 2016

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

artículo científico publicado en 2014

New basal cell carcinoma susceptibility loci

artículo científico publicado en 2015

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

artículo científico publicado en 2014

Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

scientific article published on 23 April 2020

Publisher Correction: GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

scientific article published on 24 May 2019

Reconstructing an African haploid genome from the 18th century.

artículo científico publicado en 2018

Selection against variants in the genome associated with educational attainment

scientific article published on 17 January 2017

Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation

artículo científico publicado en 2017

Sequence variants associating with urinary biomarkers

scientific article published on 01 April 2019

Sequence variants in the RNF212 gene associate with genome-wide recombination rate

artículo científico publicado en 2008

The nature of nurture: Effects of parental genotypes

artículo científico publicado en 2018

Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease

artículo científico publicado en 2016

Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits

artículo científico publicado en 2018

Weighting sequence variants based on their annotation increases power of whole-genome association studies

artículo científico publicado en 2016

Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis

artículo científico publicado en 2017

Lista de obras de

A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis

A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences

A rare missense variant in associates with lower cholesterol levels

A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer

A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin

Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin

Author Correction: The rate of meiotic gene conversion varies by sex and age

COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.

Characterizing mutagenic effects of recombination through a sequence-level genetic map

Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma

Common variants conferring risk of schizophrenia

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

Corrigendum: Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis.

Description of the EuroTARGET cohort: A European collaborative project on TArgeted therapy in renal cell cancer-GEnetic- and tumor-related biomarkers for response and toxicity.

Detection of sharing by descent, long-range phasing and haplotype imputation

Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis

Epigenetic and genetic components of height regulation

Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations

GORpipe: a query tool for working with sequence data based on a Genomic Ordered Relational (GOR) architecture

GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets

Genetic correction of PSA values using sequence variants associated with PSA levels

Genome-wide association meta-analysis yields 20 loci associated with gallstone disease

Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer

Graphtyper enables population-scale genotyping using pangenome graphs.

Identification of a large set of rare complete human knockouts

Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes

Identification of low-frequency variants associated with gout and serum uric acid levels

Identification of sequence variants influencing immunoglobulin levels.

Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

New basal cell carcinoma susceptibility loci

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

Publisher Correction: GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

Reconstructing an African haploid genome from the 18th century.

Selection against variants in the genome associated with educational attainment

Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation

Sequence variants associating with urinary biomarkers

Sequence variants in the RNF212 gene associate with genome-wide recombination rate

The nature of nurture: Effects of parental genotypes

Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease

Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits

Weighting sequence variants based on their annotation increases power of whole-genome association studies

Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis