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Ophthalmology|March 16, 2016
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt DiseaseRiccardo Sangermano, Nathalie M Bax, Miriam Bauwens, et al.
Molecular Therapy. Nucleic Acids|August 17, 2018
Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 ModelsKalyan Dulla, Monica Aguila, Amelia Lane, et al.
Investigative Ophthalmology & Visual Science|May 31, 2014
IMPG2-associated retinitis pigmentosa displays relatively early macular involvementRamon A C van Huet, Rob W J Collin, Anna M Siemiatkowska, et al.
Investigative Ophthalmology & Visual Science|December 17, 2008
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorderKarin W Littink, Maria M van Genderen, Rob W J Collin, et al.
Human Mutation|March 22, 2007
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairmentRob W J Collin, Ersan Kalay, Jaap Oostrik, et al.
Breast Cancer Research : BCR|December 30, 2025
17β-Hydroxysteroid dehydrogenases 1 and 2: potential markers for breast cancer recurrence and tamoxifen resistance among premenopausal women diagnosed with breast cancer in DenmarkLindsay J Collin, Kirsten M Woolpert, Anders Kjaersgaard, et al.
JAMA Network Open|October 18, 2024
Diet and Survival in Black Women With Epithelial Ovarian CancerTsion A Armidie, Elisa V Bandera, Courtney E Johnson, et al.
Molecular Vision|June 19, 2014
Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosisAnna M Siemiatkowska, L Ingeborgh van den Born, Maria M van Genderen, et al.
Human Mutation|August 19, 2021
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal diseaseManon H C A Peeters, Mubeen Khan, Anoek A M B Rooijakkers, et al.
American Journal of Epidemiology|July 30, 2025
Neighborhood disorder and ovarian cancer survival in black womenChristopher Pierson, Stephen J Mooney, Andrew Lawson, et al.
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