David R Adams Selected Research

Uridine Diphosphate (UDP)

1/2022	Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.
1/2017	Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.
12/2016	Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience.
4/2016	The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.
1/2016	Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
7/2015	The Undiagnosed Diseases Program Integrated Collaboration System (UDPICS): One Program's Experience Developing Custom Software to Support Research for Complex-Disease Families.
12/2014	The National Institutes of Health undiagnosed diseases program.

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David R Adams Research Topics

Disease

9	Undiagnosed Diseases 01/2022 - 12/2014
7	Neoplasms (Cancer) 12/2020 - 06/2004
6	Inflammation (Inflammations) 01/2020 - 05/2012
4	Breast Neoplasms (Breast Cancer) 01/2021 - 01/2017
4	Oculocutaneous Albinism (Albinism, Yellow Mutant) 01/2019 - 10/2011
4	Intellectual Disability (Idiocy) 12/2016 - 06/2009
3	Hidradenitis Suppurativa 01/2019 - 12/2003
3	Epilepsy (Aura) 12/2016 - 01/2014
2	Congenital Disorders of Glycosylation 07/2022 - 06/2015
2	Hypertension (High Blood Pressure) 01/2022 - 01/2020
2	Ataxia (Dyssynergia) 11/2021 - 12/2020
2	Psoriasis (Pustulosis Palmaris et Plantaris) 11/2020 - 02/2006
2	Hemorrhage 01/2020 - 03/2011
2	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2017 - 01/2016
2	Brain Diseases (Brain Disorder) 03/2014 - 01/2014
2	Contact Dermatitis (Eczema, Contact) 07/2012 - 03/2008
2	Erythema 05/2012 - 03/2011
2	Dermatitis 03/2008 - 07/2006
1	Headache (Headaches) 02/2022
1	Acidosis 01/2022
1	Hyperkalemia 01/2022
1	Fibrosis (Cirrhosis) 01/2021
1	Carcinogenesis 01/2021
1	Sensorineural Hearing Loss 12/2020
1	Relapsing-Remitting Multiple Sclerosis 12/2020
1	Lung Neoplasms (Lung Cancer) 01/2020
1	Infantile Epileptic-Dyskinetic Encephalopathy 01/2020
1	Oculocerebrorenal Syndrome (Lowe Syndrome) 01/2020
1	Hypopigmentation (Hypomelanosis) 01/2019
1	Eye Abnormalities (Eye Abnormality) 01/2019
1	Albinism 01/2019
1	Acne Vulgaris 01/2019
1	Wounds and Injuries (Trauma) 01/2019
1	Atopic Dermatitis (Atopic Eczema) 01/2019
1	Rufous oculocutaneous albinism 10/2018
1	Atherosclerosis 12/2017
1	Cardiovascular Diseases (Cardiovascular Disease) 12/2017
1	Platelet Storage Pool Deficiency 01/2017
1	Pitt-Hopkins syndrome 01/2016
1	Hearing Loss (Hearing Impairment) 06/2015
1	Seizures (Absence Seizure) 06/2015
1	Muscle Hypotonia (Hypotonia) 06/2015
1	Metabolic Bone Diseases (Osteopenia) 03/2015
1	Nephrocalcinosis 03/2015
1	Cysts 03/2015
1	Hypoglycemia (Reactive Hypoglycemia) 03/2015
1	Respiratory Tract Infections (Respiratory Tract Infection) 03/2015
1	Rare Diseases (Rare Disease) 11/2014
1	Smith-Magenis Syndrome 11/2014

Drug/Important Bio-Agent (IBA)

7	Uridine Diphosphate (UDP)IBA 01/2022 - 12/2014
7	Proteins (Proteins, Gene)FDA Link 01/2020 - 07/2013
5	sphingosine kinaseIBA 01/2021 - 01/2016
3	nitisinone (Orfadin)FDA Link 01/2019 - 10/2011
3	Melanins (Melanin)IBA 01/2019 - 10/2011
3	Monophenol Monooxygenase (Tyrosinase)IBA 01/2019 - 10/2011
3	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 12/2016 - 01/2014
2	N-Acetylneuraminic Acid (Sialic Acid)IBA 11/2021 - 06/2009
2	Retinaldehyde (Retinal)IBA 12/2020 - 03/2015
2	DNA (Deoxyribonucleic Acid)IBA 06/2018 - 06/2013
2	Sphingosine-1-Phosphate ReceptorsIBA 06/2018 - 01/2018
2	CytokinesIBA 12/2017 - 07/2013
2	Pharmaceutical PreparationsIBA 12/2017 - 05/2012
2	Ligand-Gated Ion ChannelsIBA 12/2016 - 01/2014
2	Protein Isoforms (Isoforms)IBA 01/2016 - 01/2016
2	Etanercept (Enbrel)FDA Link 05/2010 - 11/2004
2	Infliximab (Remicade)FDA Link 02/2006 - 12/2003
1	glucosidase IIBA 07/2022
1	UbiquitinIBA 01/2022
1	Lysine (L-Lysine)FDA Link 01/2022
1	Phosphotransferases (Kinase)IBA 01/2022
1	Ligases (Synthetase)IBA 01/2022
1	safingol (sphinganine)IBA 12/2020
1	Fingolimod Hydrochloride (FTY720)FDA Link 12/2020
1	Therapeutic UsesIBA 11/2020
1	3- (4- chlorophenyl)- adamantane- 1- carboxylic acid (pyridin-4-ylmethyl)amideIBA 11/2020
1	Imiquimod (Aldara)FDA LinkGeneric 11/2020
1	Fatty Acids (Saturated Fatty Acids)IBA 01/2020
1	Cadherins (E-Cadherin)IBA 01/2019
1	Delta CateninIBA 01/2019
1	Biological ProductsIBA 11/2018
1	Extracellular Signal-Regulated MAP Kinases (Extracellular Signal Regulated Kinases)IBA 06/2018
1	G-Protein-Coupled Receptors (Receptors, G Protein Coupled)IBA 06/2018
1	sphingosine 1-phosphate (sphingosine-1-phosphate)IBA 01/2018
1	erythromycin propionate-N-acetylcysteinateIBA 12/2017
1	EnzymesIBA 12/2017
1	Basic Helix-Loop-Helix Transcription FactorsIBA 01/2016
1	Nuclear Localization Signals (Nuclear Localization Signal)IBA 01/2016
1	Polysaccharides (Glycans)IBA 06/2015
1	carbohydrate-deficient transferrinIBA 06/2015
1	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 06/2015
1	AlbuminsIBA 06/2015
1	PolyaminesIBA 03/2015
1	Glutamic Acid (Glutamate)FDA Link 11/2014

Therapy/Procedure

4	Therapeutics 02/2022 - 10/2002
1	Oral Surgery (Maxillofacial Surgery) 02/2022
1	Genomic Medicine 01/2021
1	Speech Therapy (Therapy, Speech) 12/2020
1	Perioperative Period 01/2020
1	Precision Medicine 04/2016
1	Endurance Training 01/2016