List of works - Nicole L Washington

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

scientific article published on 25 August 2016

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.

scientific article

Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research

scientific article published on February 2013

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

scientific article

Deletions of chromosomal regulatory boundaries are associated with congenital disease

scientific article

Disease insights through cross-species phenotype comparisons

scientific article

Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium.

scientific article published on 26 June 2017

FER-1 regulates Ca2+ -mediated membrane fusion during C. elegans spermatogenesis

scientific article published on 30 May 2006

Genetic counseling, 2030: An on-demand service tailored to the needs of a price conscious, genetically literate, and busy world

scientific article published on 01 April 2019

Identifiers for the 21st century: How to design, provision, and reuse persistent identifiers to maximize utility and impact of life science data

scientific article (publication date: 20 March 2017)

Identifiers for the 21st century: How to design, provision, and reuse persistent identifiers to maximize utility and impact of life science data

scientific article

Improved exome prioritization of disease genes through cross-species phenotype comparison

scientific article

Linking human diseases to animal models using ontology-based phenotype annotation

scientific article

Navigating the Phenotype Frontier: The Monarch Initiative

scientific article

Navigating the phenotype frontier: The Monarch Initiative

Next-generation diagnostics and disease-gene discovery with the Exomiser

scientific article

PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases

scientific article

Population genetic screening efficiently identifies carriers of autosomal dominant diseases

scientific article published on 27 July 2020

Revealing variants in SARS-CoV-2 interaction domain of ACE2 and loss of function intolerance through analysis of >200,000 exomes

scientific article published on 17 April 2020

The Matchmaker Exchange: a platform for rare disease gene discovery

scientific article

The Monarch Initiative: Insights across species reveal human disease mechanisms

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species

scientific article

The Resource Identification Initiative: A Cultural Shift in Publishing

scientific article from The Journal of Comparative Neurology

The Resource Identification Initiative: A Cultural Shift in Publishing

scientific article published on 20 November 2015 from Neuroinformatics

The Resource Identification Initiative: A cultural shift in publishing

scientific article (publication date: 2015) from F1000Research

The Resource Identification Initiative: a cultural shift in publishing

scientific article (publication date: 2016)

The influence of disease categories on gene candidate predictions from model organism phenotypes

scientific article

The modENCODE Data Coordination Center: lessons in harvesting comprehensive experimental details

scientific article (publication date: 2011)

Use of animal models for exome prioritization of rare disease genes

article

Use of model organism and disease databases to support matchmaking for human disease gene discovery

scientific article

modMine: flexible access to modENCODE data

scientific article

List of works by Nicole L Washington

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.

Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

Deletions of chromosomal regulatory boundaries are associated with congenital disease

Disease insights through cross-species phenotype comparisons

Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium.

FER-1 regulates Ca2+ -mediated membrane fusion during C. elegans spermatogenesis

Genetic counseling, 2030: An on-demand service tailored to the needs of a price conscious, genetically literate, and busy world

Identifiers for the 21st century: How to design, provision, and reuse persistent identifiers to maximize utility and impact of life science data

Identifiers for the 21st century: How to design, provision, and reuse persistent identifiers to maximize utility and impact of life science data

Improved exome prioritization of disease genes through cross-species phenotype comparison

Linking human diseases to animal models using ontology-based phenotype annotation

Navigating the Phenotype Frontier: The Monarch Initiative

Navigating the phenotype frontier: The Monarch Initiative

Next-generation diagnostics and disease-gene discovery with the Exomiser

PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases

Population genetic screening efficiently identifies carriers of autosomal dominant diseases

Revealing variants in SARS-CoV-2 interaction domain of ACE2 and loss of function intolerance through analysis of >200,000 exomes

The Matchmaker Exchange: a platform for rare disease gene discovery

The Monarch Initiative: Insights across species reveal human disease mechanisms

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species

The Resource Identification Initiative: A Cultural Shift in Publishing

The Resource Identification Initiative: A Cultural Shift in Publishing

The Resource Identification Initiative: A cultural shift in publishing

The Resource Identification Initiative: a cultural shift in publishing

The influence of disease categories on gene candidate predictions from model organism phenotypes

The modENCODE Data Coordination Center: lessons in harvesting comprehensive experimental details

Use of animal models for exome prioritization of rare disease genes

Use of model organism and disease databases to support matchmaking for human disease gene discovery

modMine: flexible access to modENCODE data