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Publications by Jan-Willem R. Pott

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic C.2991+1655A>G Mutation in CEP290

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

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Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human C.2991+1655A>G LCA10 Models

Molecular Therapy - Nucleic Acids

Molecular Medicine

English

Deep Intronic GPR143 Mutation in a Japanese Family With Ocular Albinism

Scientific Reports

Multidisciplinary

English

Clinical, Genetic, and Pathologic Characterization of FKRP Mexican Founder Mutation C.1387A>G

Neurology: Genetics

English

ATP-binding Cassette Subfamily A, Member 4 Intronic Variants C.4773+3A>G and C.5461-10t>c Cause Stargardt Disease Due to Defective Splicing

Acta Ophthalmologica

English

Gradual Loss of ACTH Due to a Novel Mutation in LHX4: Comprehensive Mutation Screening in Japanese Patients With Congenital Hypopituitarism

Multidisciplinary

English

Congenital Myasthenic Syndrome Due to Mutation in CHRNE Gene

Child Neurology

English

Mutation Analysis of NPHP6/CEP290 in Patients With Joubert Syndrome and Senior Loken Syndrome

Journal of Medical Genetics

English

C.620C>T Mutation in GATA4 Is Associated With Congenital Heart Disease in South India

BMC Medical Genetics

English

Optic Nerve Remodeling Event Due to a Retinal Ganglion Cell Degeneration in Patients With Parkinson Disease

Acta Ophthalmologica

English