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- 2017
- CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients
- TBK1 mutation spectrum in an extended European patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis
- 2016
- ALG1-CDG: clinical and molecular characterization of 39 unreported patients
- DNA diagnostics of hereditary hearing loss: a targeted resequencing approach combined with a mutation classification system
- 2015
- Genetic heterogeneity and clinical variability in musculocontractural Ehlers–Danlos syndrome caused by impaired dermatan sulfate biosynthesis
- High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlation
- An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients
- Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)
- Hidden genetic variation in LCA9-associated congenital blindness explained by 5′UTR mutations and copy-number variations of NMNAT1
- Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice