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Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.
Herdewyn S, Zhao H, Moisse M, Race V, Matthijs G, Reumers J, Kusters B, Schelhaas HJ, van den Berg LH, Goris A, Robberecht W, Lambrechts D, Van Damme P. Herdewyn S, et al. Hum Mol Genet. 2012 Jun 1;21(11):2412-9. doi: 10.1093/hmg/dds055. Epub 2012 Feb 17. Hum Mol Genet. 2012. PMID: 22343411 Free PMC article.
Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients.
Smeets N, Gheldof A, Dequeker B, Poleur M, Maldonado Slootjes S, Van Parijs V, Deconinck N, Dontaine P, Alonso-Jimenez A, De Bleecker J, De Ridder W, Herdewyn S, Paquay S, Vanlander A, De Waele L, Peirens G, Beysen D, Claeys KG, Dubuisson N, Hansen I, Remiche G, Seneca S, Bissay V, Régal L. Smeets N, et al. Among authors: herdewyn s. Pediatr Neurol. 2024 Sep;158:57-65. doi: 10.1016/j.pediatrneurol.2024.06.002. Epub 2024 Jun 11. Pediatr Neurol. 2024. PMID: 38964204
Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders.
Schuermans N, Verdin H, Ghijsels J, Hellemans M, Debackere E, Bogaert E, Symoens S, Naesens L, Lecomte E, Crosiers D, Bergmans B, Verhoeven K, Poppe B, Laureys G, Herdewyn S, Van Langenhove T, Santens P, De Bleecker JL, Hemelsoet D, Dermaut B; for Program for Undiagnosed Rare Diseases (UD-PrOZA). Schuermans N, et al. Among authors: herdewyn s. Neurol Genet. 2023 Apr 26;9(3):e200071. doi: 10.1212/NXG.0000000000200071. eCollection 2023 Jun. Neurol Genet. 2023. PMID: 37152446 Free PMC article.
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