Stehr, A.M.* et al. Consolidating the role of mutated ATP2B2 in neurodevelopmental and cerebellar pathologies. Clin. Genet., DOI: 10.1111/cge.14622 (2024) Popp, B.* et al. The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome. Clin. Genet. 103, 226-230 (2023) Weiss, K.J.* et al. Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation. Clin. Genet. 103, 644-654 (2023) Christensen, M.B.* et al. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Clin. Genet. 102, 98-109 (2022) Brunet, T.* et al. De novo variants in neurodevelopmental disorders-experiences from a tertiary care center. Clin. Genet. 100, 14-28 (2021) Schuch, L.A.* et al. FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs! Clin. Genet. 99, 789-801 (2021) Schwaibold, E.M.C.* ; Brugger, M.* & Wagner, M. A C-terminal BCOR nonsense variant in a male patient expands the phenotypic spectrum of BCOR-associated syndromic microphthalmia. Clin. Genet. 100, 489-490 (2021) van der Ven, A.T.* et al. Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort. Clin. Genet., DOI: 10.1111/cge.14061 (2021) Gold, N.B.* et al. Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder. Clin. Genet. 98, 571-576 (2020) Kotzaeridou, U.* et al. Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review. Clin. Genet. 98, 507-514 (2020) Panneman, D.M.* et al. Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction. Clin. Genet. 97, 556-566 (2020) Westphal, D.S. et al. Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing. Clin. Genet. 95, 582-589 (2019) Baumann, M.* et al. MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy. Clin. Genet. 95, 182-186 (2018) Braunisch, M.C.* et al. Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. Clin. Genet. 93, 255-265 (2017) Bublitz, S.K.* et al. Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration. Clin. Genet. 92, 561-562 (2017) Schormair, B. et al. Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease. Clin. Genet. 93, 603-612 (2017) Umair, M. et al. Homozygous XYLT2 variants as a cause of spondyloocular syndrome. Clin. Genet. 93, 913-918 (2017) Parenti, I.* et al. Expanding the clinical spectrum of the "HDAC8-phenotype" - implications for molecular diagnostics, counselling and risk prediction. Clin. Genet. 89, 564-573 (2016) Baquero-Montoya, C.* et al. Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches. Clin. Genet. 86, 595-597 (2014) Elstner, M.* et al. Familial carpal tunnel syndrome: Further evidence for a genetic contribution. Clin. Genet. 69, 179-182 (2006)