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ROBERT KOENEKOOP, MD, PHD
MD, PHD
Ophthalmology Physician
NPI: 1699315796Individual
Specialties, Licenses & Credentials
Ophthalmology PhysicianPrimary
Ophthalmology
Code: 207W00000X
142730(FL)
Research & Publications (20)
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
PMID 19615668·Am J Hum Genet·2009
8-other
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.
PMID 18665195·Eur J Hum Genet·2009
8-other
Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.
PMID 19268277·Am J Hum Genet·2009
7-preclinical
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
PMID 19430481·Nat Genet·2009
7-preclinical
Successful RPE65 gene replacement and improved visual function in humans.
PMID 18766986·Ophthalmic Genet·2008
7-preclinical
Leber congenital amaurosis: genes, proteins and disease mechanisms.
PMID 18632300·Prog Retin Eye Res·2008
6-review
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.
PMID 18976725·Am J Hum Genet·2008
7-preclinical
Idiopathic central retinal artery occlusion in a 6-year-old.
PMID 18443618·Can J Ophthalmol·2008
5-case
Leber congenital amaurosis: ciliary proteins on the move.
PMID 17896308·Ophthalmic Genet·2007
6-review
Choroideremia is caused by a defective phagocytosis by the RPE of photoreceptor disc membranes, not by an intrinsic photoreceptor defect.
PMID 17896320·Ophthalmic Genet·2007
7-preclinical
Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons.
PMID 17898177·Proc Natl Acad Sci U S A·2007
7-preclinical
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
PMID 18055821·Invest Ophthalmol Vis Sci·2007
8-other
Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease.
PMID 17893657·Mol Vis·2007
8-other
Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.
PMID 17651254·Clin Exp Ophthalmol·2007
5-case
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
PMID 17546029·Nat Genet·2007
7-preclinical
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.
PMID 17924349·Am J Hum Genet·2007
8-other
Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.
PMID 17407589·Genome Biol·2007
8-other
Development of a genotyping microarray for Usher syndrome.
PMID 16963483·J Med Genet·2007
4-observational
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
PMID 17120248·Ann Neurol·2006
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 6799 COLLINS AVE APT 303
MIAMI BEACH, FL 33141 - Phone
- (438) 402-9015
Quick Facts
- NPI
- 1699315796
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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