Lista de obras - Aslaug Jonasdottir - Dominio Público Uruguay

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

artículo científico publicado en 2011

A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma

artículo científico publicado en 2017

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

artículo científico publicado en 2011

A sequence variant on 17q21 is associated with age at onset and severity of asthma

artículo científico publicado en 2010

Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus

artículo científico publicado en 2010

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

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

artículo científico publicado en 2017

Discovery of common variants associated with low TSH levels and thyroid cancer risk

scientific journal article

Diversity in non-repetitive human sequences not found in the reference genome

artículo científico publicado en 2017

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 identifies sequence variants on 6q21 associated with age at menarche

artículo científico publicado en 2009

Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma

scientific journal article

HLA class II sequence variants influence tuberculosis risk in populations of European ancestry

artículo científico publicado en 2016

Identification of a large set of rare complete human knockouts

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Large recurrent microdeletions associated with schizophrenia

artículo científico publicado en 2008

Multi-nucleotide de novo Mutations in Humans

artículo científico publicado en 2016

Mutations in BRIP1 confer high risk of ovarian cancer

artículo científico publicado en 2011

Parental origin of sequence variants associated with complex diseases

scientific article published on December 2009

Rare mutations associating with serum creatinine and chronic kidney disease

artículo científico publicado en 2014

Rate of de novo mutations and the importance of father's age to disease risk

artículo científico publicado en 2012

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

artículo científico publicado en 2008

The rate of meiotic gene conversion varies by sex and age.

artículo científico publicado en 2016

Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease

artículo científico publicado en 2016

Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease

artículo científico publicado en 2016

Whole genome characterization of sequence diversity of 15,220 Icelanders

artículo científico publicado en 2017

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 Aslaug Jonasdottir

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma

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

A sequence variant on 17q21 is associated with age at onset and severity of asthma

Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus

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

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

Discovery of common variants associated with low TSH levels and thyroid cancer risk

Diversity in non-repetitive human sequences not found in the reference genome

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

Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche

Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma

HLA class II sequence variants influence tuberculosis risk in populations of European ancestry

Identification of a large set of rare complete human knockouts

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

Large recurrent microdeletions associated with schizophrenia

Multi-nucleotide de novo Mutations in Humans

Mutations in BRIP1 confer high risk of ovarian cancer

Parental origin of sequence variants associated with complex diseases

Rare mutations associating with serum creatinine and chronic kidney disease

Rate of de novo mutations and the importance of father's age to disease risk

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

The rate of meiotic gene conversion varies by sex and age.

Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease

Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease

Whole genome characterization of sequence diversity of 15,220 Icelanders

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