- Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing2020 | 1. lékařská fakulta
- Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability2010 | 2. lékařská fakulta
- Alu insertion polymorphisms in the African Sahel and the origin of Fulani pastoralists2017 | Přírodovědecká fakulta