Carel B Hoyng

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 8

Top Topics

Intellectual Disability

Top Venues

Molecular genetics & genomic medicine

Journal of medical genetics

Acta ophthalmologica

This page only lists publications with an associated author ORCID identifier.

Publications

Nuria Suárez-Herrera, Catherina H Z Li, Nico Leijsten, Dyah W Karjosukarso, Zelia Corradi, Femke Bukkems, Lonneke Duijkers, Frans P M Cremers, Carel B Hoyng, Alejandro Garanto, Rob W J Collin
Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease. Cells 13 (7) (2024)
Nuria Suárez-Herrera, Catherina H Z Li, Nico Leijsten, Dyah W Karjosukarso, Zelia Corradi, Femke Bukkems, Lonneke Duijkers, Frans P M Cremers, Carel B Hoyng, Alejandro Garanto, Rob W J Collin
Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease. Cells 13 (7) (2024)
Nuria Suárez-Herrera, Catherina H Z Li, Nico Leijsten, Dyah W Karjosukarso, Zelia Corradi, Femke Bukkems, Lonneke Duijkers, Frans P M Cremers, Carel B Hoyng, Alejandro Garanto, Rob W J Collin
Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease. Cells 13 (7) (2024)
Nuria Suárez-Herrera, Catherina H Z Li, Nico Leijsten, Dyah W Karjosukarso, Zelia Corradi, Femke Bukkems, Lonneke Duijkers, Frans P M Cremers, Carel B Hoyng, Alejandro Garanto, Rob W J Collin
Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease. Cells 13 (7) (2024)
Nuria Suárez-Herrera, Catherina H Z Li, Nico Leijsten, Dyah W Karjosukarso, Zelia Corradi, Femke Bukkems, Lonneke Duijkers, Frans P M Cremers, Carel B Hoyng, Alejandro Garanto, Rob W J Collin
Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease. Cells 13 (7) (2024)
Zeinab Fadaie, Laura Whelan, Adrian Dockery, Catherina H Z Li, L Ingeborgh van den Born, Carel B Hoyng, Christian Gilissen, Christian Gilissen, Charlie F Rowlands, Roly Megaw, Anne K Lampe, Frans P M Cremers, Gwyneth Jane Farrar, Jamie M Ellingford, Paul F Kenna, Susanne Roosing
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa. Journal of medical genetics (2021)
Esmee H Runhart, Patty P A Dhooge, Magda Meester-Smoor, Jeroen Pas, Jan Willem R Pott, Redmer van Leeuwen, Hester Y Kroes, Arthur A Bergen, Yvonne de Jong-Hesse, Alberta A Thiadens, Mary J van Schooneveld, Maria van Genderen, Camiel Boon, Caroline Klaver, L Ingeborg van den Born, Frans P M Cremers, Carel B Hoyng
Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry. Acta ophthalmologica (2021)
Sanne K Verbakel, Zeinab Fadaie, B Jeroen Klevering, Maria M van Genderen, Ilse Feenstra, Frans P M Cremers, Carel B Hoyng, Susanne Roosing
The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy. Molecular genetics & genomic medicine 7 (6) (2019)