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List of works by David R Adams

A call for global action for rare diseases in Africa

scientific article published on 01 January 2020

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

scientific article published on 28 February 2012

Analysis of DNA sequence variants detected by high-throughput sequencing

scientific article published on 28 February 2012

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

scientific article published on 18 December 2016

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

scientific article

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

scientific article published on 15 July 2013

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

scientific article

Detecting false-positive signals in exome sequencing

scientific article published on 5 March 2012

Explorations to improve the completeness of exome sequencing

scientific article

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

scientific article published on January 2014

Genome-wide significance testing of variation from single case exomes

scientific article published on 24 October 2016

Hermansky-Pudlak syndrome type 1 in patients of Indian descent

scientific article published on 02 April 2009

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

scientific article published on 10 May 2019

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

scientific article

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

scientific article published on 19 January 2016

Next-Generation Sequencing to Diagnose Suspected Genetic Disorders

scientific article published on 01 October 2018

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

scientific article

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

scientific article published on 02 June 2016

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

scientific article

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

scientific article

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

scientific article published on 24 December 2011

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

scientific article published on 28 October 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

scientific article published on 22 January 2016

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

scientific article published on 31 July 2015

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

scientific article published on 24 February 2012

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