Winter L, Kustermann M, Ernhofer B, Höge H, Bittner RE, Schmidt WM. Proteins implicated in muscular dystrophy and cancer are functional constituents of the centrosome. Life Sci Alliance. 2022 Jul 5;5(11):e202201367. DOI: 10.26508/lsa.202201367 PMID: 35790299
Schöggl J, Siegert S, Boltshauser E, Freilinger M, Schmidt WM.A De Novo Missense NPTX1 Variant in an Individual with Infantile-Onset Cerebellar Ataxia. Mov Disord. 2022 May 12. doi: 10.1002/mds.29054 PMID: 35560436
Siegert S, Schmidt WM, Pletschko T, Bittner RE, Gobara S, Freilinger M. Specific Cognitive Changes due to Hippocalcin Alterations? A Novel Familial Homozygous Hippocalcin Variant Associated with Inherited Dystonia and Altered Cognition. Neuropediatrics. 2021 Oct;52(5):377-382. doi: 10.1055/s-0040-1722686 PMID: 33511595
Steudle F, Rehman S, Bampali K, Simeone X, Rona Z, Hauser E, Schmidt WM, Scholze P, Ernst M. A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro. Sci Rep. 2020 Feb 11;10(1):2379. doi: 10.1038/s41598-020-59323-6. PMID: 32047208
Stepien KM, Schmidt WM, Bittner RE, O'Toole O, McNamara B, Treacy EP. Long-term outcomes in a 25-year-old female affected with lipin-1 deficiency. JIMD Rep. 2019 Mar 14;46(1):4-10. doi: 10.1002/jmd2.12016. PMID: 31240148
Rahikkala E, Myllykoski M, Hinttala R, Vieira P, Nayebzadeh N, Weiss S, Plomp AS, Bittner RE, Kurki MI, Kuismin O, Lewis AM, Väisänen ML, Kokkonen H, Westermann J, Bernert G, Tuominen H, Palotie A, Aaltonen L, Yang Y, Potocki L, Moilanen J, van Koningsbruggen S, Wang X, Schmidt WM, Koivunen P, Uusimaa Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome). J. Genet Med. 2019 Oct;21(10):2355-2363. doi: 10.1038/s41436-019-0503-4. PMID: 30940925
Aartsma-Rus A, Hegde M, Ben-Omran T, Buccella F, Ferlini A, Gallano P, Howell RR, Leturcq F, Martin AS, Potulska-Chromik A, Saute JA, Schmidt WM, Sejersen T, Tuffery-Giraud S, Uyguner ZO, Witcomb LA, Yau S, Nelson SF. Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy. J Pediatr. 2019 Jan;204:305-313.e14. doi: 10.1016/j.jpeds.2018.10.043. PMID: 30579468