Susanne Kohl Selected Research

Cone-Rod Dystrophies

5/2021	Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants.
1/2018	Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa.
7/2013	Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.
7/2013	Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.
11/2008	Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.
7/2008	ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

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Susanne Kohl Research Topics

Disease

30	Color Vision Defects (Color Blindness) 12/2023 - 08/2002
10	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2024 - 02/2013
6	Blue cone monochromatism 01/2022 - 09/2004
6	Cone-Rod Dystrophies 05/2021 - 07/2008
6	Cone Dystrophy 05/2021 - 11/2006
5	Retinal Dystrophies 01/2024 - 01/2012
5	Atrophy 01/2023 - 12/2013
4	Disease Progression 01/2022 - 12/2015
4	Retinal Diseases 01/2021 - 09/2011
3	Photophobia (Light Sensitivity) 01/2021 - 10/2008
3	congenital stationary Night blindness 01/2013 - 10/2006
2	Usher Syndromes (Usher Syndrome) 01/2023 - 12/2019
2	Stargardt Disease 09/2022 - 01/2022
2	Blindness (Hysterical Blindness) 01/2021 - 12/2019
2	Vision Disorders (Hemeralopia) 12/2013 - 02/2012
2	Night Blindness (Nyctalopia) 11/2006 - 10/2006
1	Sensorineural Hearing Loss 01/2024
1	Hearing Loss (Hearing Impairment) 01/2024
1	Low Vision (Subnormal Vision) 01/2022
1	Refractive Errors (Refractive Error) 01/2021
1	Retinoschisis (Retinoschisis, Juvenile) 01/2020
1	Choroideremia 01/2020
1	Macular Degeneration (Age-Related Maculopathy) 01/2018
1	Fundus Albipunctatus 06/2015
1	Newfoundland Rod-Cone Dystrophy 06/2015
1	Bietti Crystalline Dystrophy 01/2015
1	Leber Congenital Amaurosis 01/2014
1	Eye Diseases (Eye Disease) 09/2011
1	Renal Insufficiency (Renal Failure) 02/2011
1	Sudden Death 02/2011
1	Edema (Dropsy) 03/2009

Drug/Important Bio-Agent (IBA)

39	Retinaldehyde (Retinal)IBA 01/2024 - 02/2008
8	Proteins (Proteins, Gene)FDA Link 01/2023 - 08/2002
5	Cyclic NucleotidesIBA 12/2023 - 01/2004
4	DNA (Deoxyribonucleic Acid)IBA 05/2023 - 07/2008
4	Phosphoric Diester Hydrolases (Phosphodiesterases)IBA 01/2022 - 11/2009
3	Ion Channels (Ion Channel)IBA 12/2023 - 11/2017
3	Nonsense Codon (Nonsense Mutation)IBA 12/2019 - 09/2012
3	Carrier Proteins (Binding Protein)IBA 06/2015 - 10/2006
2	Amino Acids FDA Link 01/2024 - 01/2003
2	AequorinIBA 12/2023 - 01/2021
2	cytidylyl-(3'-5')-cytidine (CpC)IBA 01/2023 - 01/2022
2	Cone OpsinsIBA 01/2022 - 01/2015
2	CalciumIBA 01/2021 - 08/2009
2	Biomarkers (Surrogate Marker)IBA 01/2018 - 01/2017
2	NucleotidesIBA 10/2017 - 11/2006
2	Activating Transcription Factor 6IBA 10/2017 - 10/2016
2	Rhodopsin (Visual Purple)IBA 10/2016 - 02/2013
1	Codon (Codons)IBA 01/2024
1	Adenosine Monophosphate (AMP)IBA 12/2023
1	coenzyme Q10 (CoQ10)IBA 10/2022
1	Adenosine Triphosphate (ATP)IBA 09/2022
1	1,4-dihydropyridine (dihydropyridine)IBA 01/2021
1	atalurenIBA 12/2019
1	Protein Isoforms (Isoforms)IBA 01/2018
1	GTP Phosphohydrolases (GTPases)IBA 01/2017
1	Nicotinamide-Nucleotide AdenylyltransferaseIBA 01/2014
1	Monomeric GTP-Binding ProteinsIBA 07/2013
1	SolutionsIBA 09/2011
1	ElectrolytesIBA 02/2011
1	Guanylate Cyclase (Guanylyl Cyclase)IBA 08/2009
1	Guanine NucleotidesIBA 07/2008
1	Peptides (Polypeptides)IBA 07/2008
1	Cyclic Nucleotide-Gated Cation ChannelsIBA 07/2008
1	Calcium Channels (Calcium Channel)IBA 11/2006
1	middle-wavelength opsinIBA 09/2004
1	GTP-Binding Protein alpha SubunitsIBA 08/2002

Therapy/Procedure

4	Therapeutics 01/2020 - 12/2013
1	Electrodes (Electrode) 01/2023
1	Ligation 01/2020
1	Slit Lamp 07/2013
1	Genomic Medicine 09/2011