PuSH - HMGU Publikationen https://push-zb.helmholtz-munich.de PuSH - Publikationen-Server des Helmholtz Zentrums München de-de <![CDATA[Stehr, A.M.* et al. Consolidating the role of mutated ATP2B2 in neurodevelopmental and cerebellar pathologies. Clin. Genet., DOI: 10.1111/cge.14622 (2024)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=71931&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=71931&la=de Fri, 08 Nov 2024 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=66362&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=66362&la=de Wed, 23 Nov 2022 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67520&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67520&la=de Wed, 01 Mar 2023 00:00:00 +0000 <![CDATA[Christensen, M.B.* et al. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Clin. Genet. 102, 98-109 (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=65388&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=65388&la=de Tue, 19 Jul 2022 00:00:00 +0000 <![CDATA[Brunet, T.* et al. De novo variants in neurodevelopmental disorders-experiences from a tertiary care center. Clin. Genet. 100, 14-28 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61486&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61486&la=de Mon, 10 May 2021 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61499&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61499&la=de Tue, 11 May 2021 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62623&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62623&la=de Wed, 04 Aug 2021 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62949&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62949&la=de Wed, 13 Oct 2021 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60307&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60307&la=de Tue, 24 Nov 2020 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59917&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59917&la=de Mon, 19 Oct 2020 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57877&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57877&la=de Tue, 17 Mar 2020 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55684&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55684&la=de Fri, 29 Mar 2019 00:00:00 +0000 <![CDATA[Baumann, M.* et al. MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy. Clin. Genet. 95, 182-186 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54485&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54485&la=de Tue, 23 Oct 2018 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52363&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52363&la=de Thu, 23 Nov 2017 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51962&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51962&la=de Thu, 28 Sep 2017 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51787&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51787&la=de Mon, 12 Feb 2018 00:00:00 +0000 <![CDATA[Umair, M. et al. Homozygous XYLT2 variants as a cause of spondyloocular syndrome. Clin. Genet. 93, 913-918 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52334&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52334&la=de Wed, 22 Nov 2017 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=47858&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=47858&la=de Thu, 11 Feb 2016 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=29336&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=29336&la=de Wed, 12 Feb 2014 00:00:00 +0000 <![CDATA[Elstner, M.* et al. Familial carpal tunnel syndrome: Further evidence for a genetic contribution. Clin. Genet. 69, 179-182 (2006)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=1914&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=1914&la=de Wed, 05 Apr 2006 00:00:00 +0000