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- 2016
- DNA diagnostics of hereditary hearing loss: a targeted resequencing approach combined with a mutation classification system
- 2015
- High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlation
- Genetic heterogeneity and clinical variability in musculocontractural Ehlers–Danlos syndrome caused by impaired dermatan sulfate biosynthesis
- Hidden genetic variation in LCA9-associated congenital blindness explained by 5′UTR mutations and copy-number variations of NMNAT1
- Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)
- An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients
- Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice
- 2014
- Deciphering the cis-regulatory landscape of SOX9 implicated in craniofacial development and isolated Pierre Robin sequence
- Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure
- Palindrome-mediated and replication-dependent pathogenic structural rearrangements within the NF1 gene