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Lista de obras de David R Adams

A call for global action for rare diseases in Africa

artículo científico publicado en 2020

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia

artículo científico publicado en 2012

Analysis of DNA sequence variants detected by high-throughput sequencing

artículo científico publicado en 2012

Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in China

artículo científico publicado en 2013

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

artículo científico publicado en 2017

Detecting false-positive signals in exome sequencing

artículo científico publicado en 2012

Explorations to improve the completeness of exome sequencing

artículo científico publicado en 2016

Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy

artículo científico publicado en 2014

Genome-wide significance testing of variation from single case exomes

artículo científico publicado en 2016

Hermansky-Pudlak syndrome type 1 in patients of Indian descent

artículo científico publicado en 2009

Identifying Clinical Terms in Medical Text Using Ontology-Guided Machine Learning.

artículo científico publicado en 2019

Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man.

artículo científico publicado en 2011

Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation

artículo científico publicado en 2016

Next-Generation Sequencing to Diagnose Suspected Genetic Disorders

artículo científico publicado en 2018

Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism

artículo científico publicado en 2011

Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience.

articulo cientifico

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

artículo científico publicado en 2015

Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data

artículo científico publicado en 2015

Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function

artículo científico publicado en 2011

Sudden infant death “syndrome”-Insights and future directions from a Utah population database analysis

artículo científico publicado en 2016

The Low-Density Lipoprotein Receptor As a Model For Studying Candidate-Locus Linkage Disequilibrium and Allelic Association ⬇️

doctoral thesis by David R. Adams, 1998

The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine

artículo científico publicado en 2016

The Undiagnosed Diseases Program Integrated Collaboration System (UDPICS): One Program's Experience Developing Custom Software to Support Research for Complex-Disease Families

artículo científico publicado en 2015

VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance

artículo científico publicado en 2012

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