Lista de obras - Jonathan Stephens - Dominio Público Uruguay

A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways.

artículo científico publicado en 2009

A genome-wide association study identifies three loci associated with mean platelet volume

artículo científico publicado en 2008

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

artículo científico publicado en 2009

A new pedigree with thrombomodulin-associated coagulopathy in which delayed fibrinolysis is partially attenuated by co-inherited TAFI deficiency

scientific article published on 07 July 2020

A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia

artículo científico publicado en 2007

A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function

artículo científico publicado en 2009

Apheresis donors and platelet function: inherent platelet responsiveness influences platelet quality

scientific article published on 10 January 2008

Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

artículo científico publicado en 2020

Blood pressure loci identified with a gene-centric array

artículo científico publicado en 2011

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

article

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

article

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

artículo científico publicado en 2016

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

scientific article published on 01 December 2019

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

artículo científico publicado en 2011

FTO genotype is associated with phenotypic variability of body mass index

artículo científico publicado en 2012

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

artículo científico publicado en 2010

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

artículo científico publicado en 2009

Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function

artículo científico publicado en 2020

Leukemia-associated somatic mutations drive distinct patterns of age-related clonal hemopoiesis

artículo científico publicado en 2015

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

scientific article published on 24 June 2019

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans. ⬇️

artículo científico publicado en 2018

Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci

artículo científico publicado en 2013

Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size

artículo científico publicado en 2009

Multiple GYPB gene deletions associated with the U- phenotype in those of African ancestry

artículo científico publicado en 2020

Multiple loci are associated with white blood cell phenotypes

artículo científico publicado en 2011

New gene functions in megakaryopoiesis and platelet formation

artículo científico publicado en 2011

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

scientific article published on 08 April 2020

Powerful identification of cis-regulatory SNPs in human primary monocytes using allele-specific gene expression

artículo científico publicado en 2012

Production of calmodulin-tagged proteins in Drosophila Schneider S2 cells: a novel system for antigen production and phage antibody isolation

artículo científico publicado en 2006

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

scientific article published on 17 July 2020

Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes

artículo científico publicado en 2020

Seventy-five genetic loci influencing the human red blood cell

artículo científico publicado en 2012

Single domain antibodies against the collagen signalling receptor glycoprotein VI are inhibitors of collagen induced thrombus formation

artículo científico publicado en 2009

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

artículo científico publicado en 2009

Transcription profiling in human platelets reveals LRRFIP1 as a novel protein regulating platelet function

artículo científico publicado en 2010

Variation in thromboxane B2 concentrations in serum and plasma in patients taking regular aspirin before and after clopidogrel therapy

scientific article published on 16 January 2014

Whole Genome Sequencing of Primary Immunodeficiency reveals a role for common and rare variants in coding and non-coding sequences

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

artículo científico publicado en 2020

Whole-genome sequencing of patients with rare diseases in a national health system

artículo científico publicado en 2020

Lista de obras de Jonathan Stephens

A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways.

A genome-wide association study identifies three loci associated with mean platelet volume

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

A new pedigree with thrombomodulin-associated coagulopathy in which delayed fibrinolysis is partially attenuated by co-inherited TAFI deficiency

A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia

A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function

Apheresis donors and platelet function: inherent platelet responsiveness influences platelet quality

Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

Blood pressure loci identified with a gene-centric array

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

FTO genotype is associated with phenotypic variability of body mass index

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function

Leukemia-associated somatic mutations drive distinct patterns of age-related clonal hemopoiesis

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans. ⬇️

Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci

Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size

Multiple GYPB gene deletions associated with the U- phenotype in those of African ancestry

Multiple loci are associated with white blood cell phenotypes

New gene functions in megakaryopoiesis and platelet formation

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

Powerful identification of cis-regulatory SNPs in human primary monocytes using allele-specific gene expression

Production of calmodulin-tagged proteins in Drosophila Schneider S2 cells: a novel system for antigen production and phage antibody isolation

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes

Seventy-five genetic loci influencing the human red blood cell

Single domain antibodies against the collagen signalling receptor glycoprotein VI are inhibitors of collagen induced thrombus formation

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

Transcription profiling in human platelets reveals LRRFIP1 as a novel protein regulating platelet function

Variation in thromboxane B2 concentrations in serum and plasma in patients taking regular aspirin before and after clopidogrel therapy

Whole Genome Sequencing of Primary Immunodeficiency reveals a role for common and rare variants in coding and non-coding sequences

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Whole-genome sequencing of patients with rare diseases in a national health system