Lista de obras - Elizabeth Blue - Dominio Público Uruguay

8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer

artículo científico publicado en 2020

An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features.

artículo científico publicado en 2017

Analysis of pedigree data in populations with multiple ancestries: Strategies for dealing with admixture in Caribbean Hispanic families from the ADSP

artículo científico publicado en 2018

Centers for Mendelian Genomics: A decade of facilitating gene discovery

artículo científico publicado en 2022

Combining information from linkage and association methods

artículo científico publicado en 2009

Contrasting identity-by-descent estimators, association studies, and linkage analyses using the Framingham Heart Study data

artículo científico publicado en 2009

Copy Number Changes Identified Using Whole Exome Sequencing in Nonsyndromic Cleft Lip and Palate in a Honduran Population.

artículo científico publicado en 2017

Estimating and adjusting for ancestry admixture in statistical methods for relatedness inference, heritability estimation, and association testing

artículo científico publicado en 2014

Estimating relationships between phenotypes and subjects drawn from admixed families

artículo científico publicado en 2016

Estimation and visualization of identity-by-descent within pedigrees simplifies interpretation of complex trait analysis

artículo científico publicado en 2011

Evidence for three loci modifying age-at-onset of Alzheimer's disease in early-onset PSEN2 families

artículo científico publicado en 2010

Functional annotation of genomic variants in studies of late-onset Alzheimer's disease

scientific article published on 01 August 2018

Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.

artículo científico publicado en 2018

Genome scan in familial late-onset Alzheimer's disease: a locus on chromosome 6 contributes to age-at-onset

artículo científico publicado en 2013

Genome scan of age-at-onset in the NIMH Alzheimer disease sample uncovers multiple loci, along with evidence of both genetic and sample heterogeneity

artículo científico publicado en 2011

Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population.

artículo científico publicado en 2015

Identity-by-descent estimation with population- and pedigree-based imputation in admixed family data.

artículo científico publicado en 2016

Identity-by-descent graphs offer a flexible framework for imputation and both linkage and association analyses

artículo científico publicado en 2014

Kinetic analyses of vasculogenesis inform mechanistic studies.

artículo científico publicado en 2017

Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans

artículo científico publicado en 2019

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate

Next-generation gene discovery for variants of large impact on lipid traits

artículo científico publicado en 2015

Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women

artículo científico publicado en 2020

Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease

Rare variants in RTEL1 are associated with familial interstitial pneumonia

artículo científico publicado en 2015

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

artículo científico publicado en 2015

The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease

artículo científico publicado en 2010

Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and Palate.

artículo científico publicado en 2016

Value of Mendelian laws of segregation in families: data quality control, imputation, and beyond

artículo científico publicado en 2014

Variants regulating ZBTB4 are associated with age-at-onset of Alzheimer's disease.

artículo científico publicado en 2017

Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis

artículo científico publicado en 2018

Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes

artículo científico publicado en 2015

Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease.

artículo científico publicado en 2018

Lista de obras de Elizabeth Blue

8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer

An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features.

Analysis of pedigree data in populations with multiple ancestries: Strategies for dealing with admixture in Caribbean Hispanic families from the ADSP

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Combining information from linkage and association methods

Contrasting identity-by-descent estimators, association studies, and linkage analyses using the Framingham Heart Study data

Copy Number Changes Identified Using Whole Exome Sequencing in Nonsyndromic Cleft Lip and Palate in a Honduran Population.

Estimating and adjusting for ancestry admixture in statistical methods for relatedness inference, heritability estimation, and association testing

Estimating relationships between phenotypes and subjects drawn from admixed families

Estimation and visualization of identity-by-descent within pedigrees simplifies interpretation of complex trait analysis

Evidence for three loci modifying age-at-onset of Alzheimer's disease in early-onset PSEN2 families

Functional annotation of genomic variants in studies of late-onset Alzheimer's disease

Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.

Genome scan in familial late-onset Alzheimer's disease: a locus on chromosome 6 contributes to age-at-onset

Genome scan of age-at-onset in the NIMH Alzheimer disease sample uncovers multiple loci, along with evidence of both genetic and sample heterogeneity

Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population.

Identity-by-descent estimation with population- and pedigree-based imputation in admixed family data.

Identity-by-descent graphs offer a flexible framework for imputation and both linkage and association analyses

Kinetic analyses of vasculogenesis inform mechanistic studies.

Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate

Next-generation gene discovery for variants of large impact on lipid traits

Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women

Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease

Rare variants in RTEL1 are associated with familial interstitial pneumonia

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease

Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and Palate.

Value of Mendelian laws of segregation in families: data quality control, imputation, and beyond

Variants regulating ZBTB4 are associated with age-at-onset of Alzheimer's disease.

Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis

Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes

Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease.