Cornelius F Boerkoel Selected Research

Undiagnosed Diseases

1/2019	Glycomics in rare diseases: from diagnosis tomechanism.
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.
1/2016	Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience.
1/2016	Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
9/2013	Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in China.
4/2013	1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.
4/2012	Detecting false-positive signals in exome sequencing.
1/2012	The NIH Undiagnosed Diseases Program: bonding scientists and clinicians.

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Cornelius F Boerkoel Research Topics

Disease

13	Schimke immunoosseous dysplasia 11/2016 - 02/2002
9	Undiagnosed Diseases 01/2019 - 01/2012
6	Neoplasms (Cancer) 01/2020 - 06/2004
5	Intellectual Disability (Idiocy) 01/2021 - 06/2015
3	Arteriosclerosis 11/2016 - 09/2012
2	Neurodevelopmental Disorders 01/2021 - 01/2019
2	Rare Diseases (Rare Disease) 01/2019 - 11/2014
2	Snyder Robinson syndrome 01/2018 - 11/2017
2	Nervous System Diseases (Neurological Disorders) 11/2017 - 01/2014
2	Rhabdomyosarcoma 01/2016 - 10/2013
2	Congenital Disorders of Glycosylation 01/2016 - 06/2015
2	Epilepsy (Aura) 06/2015 - 01/2014
2	Nephrocalcinosis 03/2015 - 04/2013
2	Brain Diseases (Brain Disorder) 03/2014 - 01/2014
2	Infections 11/2013 - 06/2009
2	Hypersensitivity (Allergy) 09/2012 - 02/2012
2	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 01/2010 - 10/2002
2	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 06/2002 - 02/2002
1	Respiratory Insufficiency (Respiratory Failure) 01/2022
1	Respiratory Paralysis 01/2022
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2019
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2018
1	Carcinogenesis 12/2017
1	Pulmonary Arterial Hypertension 01/2016
1	Pitt-Hopkins syndrome 01/2016
1	Seizures (Absence Seizure) 06/2015
1	Muscle Hypotonia (Hypotonia) 06/2015
1	Hearing Loss (Hearing Impairment) 06/2015
1	Metabolic Bone Diseases (Osteopenia) 03/2015
1	Cysts 03/2015
1	Respiratory Tract Infections (Respiratory Tract Infection) 03/2015
1	Hypoglycemia (Reactive Hypoglycemia) 03/2015
1	Chronic Kidney Failure (Chronic Renal Failure) 01/2015
1	Breast Neoplasms (Breast Cancer) 12/2014
1	Smith-Magenis Syndrome 11/2014
1	Desmosterolosis 06/2014
1	Agammaglobulinemia (Hypogammaglobulinemia) 04/2014
1	Type IIB Congenital Disorder Of Glycosylation 04/2014

Drug/Important Bio-Agent (IBA)

8	ChromatinIBA 11/2016 - 06/2004
7	Uridine Diphosphate (UDP)IBA 01/2019 - 01/2012
6	Proteins (Proteins, Gene)FDA Link 10/2013 - 02/2002
5	EnzymesIBA 11/2017 - 10/2002
5	DNA (Deoxyribonucleic Acid)IBA 12/2014 - 06/2012
3	Polysaccharides (Glycans)IBA 01/2019 - 06/2015
3	Type I DNA Topoisomerases (Topoisomerase I)IBA 12/2014 - 10/2002
2	Ion Channels (Ion Channel)IBA 01/2021 - 03/2014
2	LigandsIBA 01/2019 - 01/2014
2	OligosaccharidesIBA 01/2019 - 04/2014
2	Spermine SynthaseIBA 01/2018 - 11/2017
2	PolyaminesIBA 11/2017 - 03/2015
2	ElastinIBA 12/2015 - 09/2012
2	Messenger RNA (mRNA)IBA 12/2015 - 10/2013
2	tyrosyl-DNA phosphodiesteraseIBA 12/2014 - 01/2010
2	Nonsense Codon (Nonsense Mutation)IBA 11/2014 - 05/2002
2	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 11/2014 - 01/2014
2	Irinotecan (Camptosar)FDA LinkGeneric 10/2013 - 09/2012
2	periaxinIBA 06/2002 - 02/2002
1	Protons (Proton)IBA 01/2021
1	AnionsIBA 01/2021
1	RNA (Ribonucleic Acid)IBA 01/2020
1	Notch ReceptorsIBA 01/2019
1	Mitochondrial DNA (mtDNA)IBA 01/2018
1	Amino Acids FDA Link 01/2018
1	Forkhead Transcription Factors (Forkhead Box Proteins)IBA 12/2017
1	A-Form DNA (A-DNA)IBA 11/2016
1	trichostatin A (A 300)IBA 01/2016
1	Transcription Factors (Transcription Factor)IBA 01/2016
1	AsparagineIBA 01/2016
1	Valproic Acid (Depakote)FDA LinkGeneric 01/2016
1	Nuclear Localization Signals (Nuclear Localization Signal)IBA 01/2016
1	Protein Isoforms (Isoforms)IBA 01/2016
1	Small Interfering RNA (siRNA)IBA 01/2016
1	theasinensin AIBA 01/2016
1	Basic Helix-Loop-Helix Transcription FactorsIBA 01/2016
1	IsomerasesIBA 01/2016
1	Mannose (D-Mannose)IBA 01/2016
1	phosphomannomutaseIBA 01/2016
1	Histone Deacetylase InhibitorsIBA 01/2016
1	Phosphates (Orthophosphate)IBA 01/2016
1	carbohydrate-deficient transferrinIBA 06/2015
1	AlbuminsIBA 06/2015
1	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 06/2015
1	Retinaldehyde (Retinal)IBA 03/2015
1	CD00509IBA 12/2014
1	CamptothecinIBA 12/2014
1	Glutamic Acid (Glutamate)FDA Link 11/2014
1	CholesterolIBA 06/2014
1	glucosidase IIBA 04/2014
1	Immunoglobulins (Immunoglobulin)IBA 04/2014
1	Memantine (Namenda)FDA Link 03/2014
1	Ligand-Gated Ion ChannelsIBA 01/2014
1	PerforinIBA 11/2013
1	Poly (ADP-Ribose) Polymerase-1IBA 10/2013
1	Topoisomerase I InhibitorsIBA 10/2013
1	Mixed Function Oxygenases (Monooxygenases)IBA 04/2013

Therapy/Procedure

4	Therapeutics 01/2020 - 10/2013
1	Artificial Respiration (Mechanical Ventilation) 01/2022
1	Diet Therapy (Therapy, Diet) 10/2013
1	Bone Marrow Transplantation (Transplantation, Bone Marrow) 10/2013
1	Genomic Medicine 09/2013