(2020) Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. Acta neuropathologica. pp. 415-442. ISSN 1432-0533

(2020) Testicular expression of TDRD1, TDRD5, TDRD9 and TDRD12 in azoospermia. BMC medical genetics. p. 33. ISSN 1471-2350

(2019) The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations. Brain : a journal of neurology. pp. 1547-1560. ISSN 1460-2156

(2017) B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. Genome medicine. p. 118. ISSN 1756-994X