Frans P. M. Cremers

发表

ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease

C. Gilissen, S. Roosing, J. Ruiz-Ederra, 2023, Frontiers in genetics.

Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases

A. Hoischen, F. Cremers, C. Gilissen, 2022, medRxiv.

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

R. Pfundt, J. Hehir-Kwa, C. Klaver, 2017, European Journal of Human Genetics.

Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework

M. De Bruyne, R. Hufnagel, C. Dhaenens, 2023, Human Mutation.

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability

D. Sharon, C. Hoyng, R. Allikmets, 2023, HGG advances.

Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

A. Hoischen, C. Klaver, D. Sharon, 2019, bioRxiv.

Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4

F. Cremers, S. Roosing, C. Ayuso, 2019, Human mutation.

I. Perlman, N. Shomron, D. Sharon, 2019 .

SENIOR–LØKEN SYNDROME

D. Sharon, Samer Khateb, E. Banin, 2021, Retina.

ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage

A. Maver, M. Hawlina, A. Meglič, 2023, Investigative ophthalmology & visual science.