John R Heckenlively Selected Research

DNA (Deoxyribonucleic Acid)

4/2017	Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.
11/2013	Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
10/2013	Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
1/2011	Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing.
1/2010	Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa.
8/2003	Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.

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John R Heckenlively Research Topics

Disease

17	Retinal Degeneration 04/2017 - 08/2002
14	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2020 - 03/2002
7	Atrophy 12/2019 - 08/2003
5	Macular Degeneration (Age-Related Maculopathy) 11/2014 - 06/2008
3	Retinal Diseases 01/2020 - 08/2002
3	Leber Congenital Amaurosis 12/2019 - 12/2006
3	Retinal Dystrophies 02/2015 - 12/2005
2	Stargardt Disease 01/2018 - 04/2010
2	Blindness (Hysterical Blindness) 07/2016 - 08/2010
2	Retinitis Pigmentosa 2 07/2013 - 02/2013
2	Cone Dystrophy 12/2011 - 08/2009
2	Central Serous Chorioretinopathy 09/2009 - 05/2006
1	Early Onset Severe Retinal Dystrophy 12/2019
1	Inflammation (Inflammations) 01/2019
1	Cysts 09/2017
1	Focal Segmental Glomerulosclerosis (Glomerulosclerosis, Focal) 09/2017
1	Renal Insufficiency (Renal Failure) 09/2017
1	Acute zonal occult outer retinopathy 04/2017
1	Rare Diseases (Rare Disease) 11/2014
1	Cone-Rod Dystrophies 12/2012
1	Disease Progression 01/2012
1	Gliosis 10/2010
1	Hereditary Corneal Dystrophies 09/2010
1	Ocular Paraneoplastic Syndromes 12/2009
1	Melanoma (Melanoma, Malignant) 12/2009
1	Giant Axonal Neuropathy 06/2009
1	Diabetes Mellitus 07/2008
1	Leukemia 12/2006
1	Late-Onset Retinal Degeneration 12/2006
1	Birdshot Chorioretinopathy 11/2005
1	Posterior Uveitis 11/2005
1	Hypertrophy 11/2005
1	Neoplasms (Cancer) 05/2005
1	Metrorrhagia (Spotting) 09/2003
1	Choroideremia 08/2003
1	Acquired Immunodeficiency Syndrome (AIDS) 04/2003
1	Necrosis 04/2003
1	Retinitis 04/2002

Drug/Important Bio-Agent (IBA)

22	Retinaldehyde (Retinal)IBA 01/2018 - 08/2002
9	Proteins (Proteins, Gene)FDA Link 09/2010 - 05/2005
6	DNA (Deoxyribonucleic Acid)IBA 04/2017 - 08/2003
3	AntibodiesIBA 04/2017 - 05/2005
2	retinol dehydrogenaseIBA 12/2019 - 12/2005
2	RecoverinIBA 01/2019 - 10/2010
2	GTP Phosphohydrolases (GTPases)IBA 02/2013 - 01/2012
2	Glial Fibrillary Acidic ProteinIBA 10/2010 - 11/2005
2	AntigensIBA 10/2010 - 05/2005
2	FlavoproteinsIBA 09/2009 - 07/2008
2	Nonsense Codon (Nonsense Mutation)IBA 12/2008 - 02/2005
2	AutoantibodiesIBA 10/2008 - 05/2005
2	WD repeat containing planar cell polarity effectorIBA 12/2006 - 08/2002
2	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 12/2006 - 12/2006
2	Inosine Monophosphate (IMP)IBA 01/2006 - 03/2002
2	Oxidoreductases (Dehydrogenase)IBA 01/2006 - 03/2002
1	Biomarkers (Surrogate Marker)IBA 01/2020
1	Aligeron (AS 2)IBA 12/2019
1	Mydriatics (Cycloplegics)IBA 07/2016
1	Fibrillin-2IBA 11/2014
1	ElastinIBA 11/2014
1	Glycoproteins (Glycoprotein)IBA 11/2014
1	Complement C3 (C3 Complement)IBA 11/2013
1	OpsinsIBA 07/2013
1	Retinal Pigments (Pigments, Visual)IBA 05/2013
1	Complement System Proteins (Complement)IBA 10/2010
1	Metalloproteases (Metalloproteinases)IBA 04/2010
1	HDL LipoproteinsIBA 04/2010
1	Fluorescein (Funduscein)FDA LinkGeneric 04/2010
1	CalciumIBA 08/2009
1	Guanylate Cyclase (Guanylyl Cyclase)IBA 08/2009
1	Serine (L-Serine)FDA Link 05/2008
1	Arginine (L-Arginine)FDA Link 05/2008
1	Type I DNA Topoisomerases (Topoisomerase I)IBA 05/2008
1	NucleotidesIBA 12/2006
1	Complement C1q (C1q Complement)IBA 12/2006
1	Carrier Proteins (Binding Protein)IBA 06/2006
1	Nucleic AcidsIBA 01/2006
1	EnzymesIBA 01/2006
1	HLA Antigens (Human Leukocyte Antigens)IBA 11/2005
1	OligonucleotidesIBA 09/2005
1	Phosphopyruvate Hydratase (Enolase)IBA 05/2005
1	LipidsIBA 02/2005
1	Messenger RNA (mRNA)IBA 08/2003
1	Rhodopsin (Visual Purple)IBA 04/2002

Therapy/Procedure

2	Precision Medicine 01/2020 - 06/2008
2	Therapeutics 07/2016 - 03/2011
1	Kidney Transplantation 09/2017
1	Investigational Therapies (Experimental Therapy) 02/2015
1	Corneal Transplantation (Keratoplasty) 09/2010
1	Organ Transplantation 05/2006