PuSH - Publication Server of Helmholtz Zentrum München

39 Records found.
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1.
Diets, I.J.* et al.: De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism. Am. J. Hum. Genet. 104, 758-766 (2019)
2.
Götzl, J.K.* et al.: Opposite microglial activation stages upon loss of PGRN or TREM2 result in reduced cerebral glucose metabolism. EMBO Mol. Med. 11, e9711 (2019)
3.
Khan, K.* et al.: Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. Genet. Med., accepted (2019)
4.
Krenn, M.* et al.: Biallelic mutations in PIGP cause developmental and epileptic encephalopathy. Ann. Clin. Transl. Neurol. 6, 968-973 (2019)
5.
Niculescu, L.* et al.: A case of ankyloblepharon- ectodermal defects-cleft lip/palate-syndrome with choanal atresia and skin erosions: Phenotypic variability of TP63-related disorders. Acta Derm.-Venereol. 99, 111-112 (2019)
6.
Reynhout, S.* et al.: De novo mutations affecting the catalytic Cα subunit of PP2A (PPP2CA) cause syndromic intellectual disability resembling other PP2A-related neurodevelopmental disorders. Am. J. Hum. Genet. 104, 139-156 (2019)
7.
Schmid, S.J.* et al.: A de novo dominant negative mutation in DNM1L causes sudden onset status epilepticus with subsequent epileptic encephalopathy. Neuropediatrics 50, 197-201 (2019)
8.
Wagner, M. et al.: Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease. J. Inherit. Metab. Dis., accepted (2019)
9.
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)
10.
Zech, M. ; Wagner, M. ; Schormair, B. ; Oexle, K. & Winkelmann, J.: Exomdiagnostik in der Neurologie. Nervenarzt 90, 131-137 (2019)
11.
Günthner, R.* et al.: Identification of co-occurrence in a patient with Dent's disease and ADA2-deficiency by exome sequencing. Gene 649, 23-26 (2018)
12.
Krenn, M.* et al.: Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: Expanding the genotype-phenotype spectrum. J. Neurol. 265, 394–401 (2018)
13.
Leszinski, G.S.* ; Warncke, K.* ; Hoefele, J.* & Wagner, M.: A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome. Gene 663, 110-114 (2018)
14.
Riedhammer, K.M.* ; Leszinski, G.S.* ; Andres, S. ; Strobl-Wildemann, G.* & Wagner, M.: First replication that biallelic variants in FITM2 cause a complex deafness-dystonia syndrome. Mov. Disord. 33, 1665-1666 (2018)
15.
Tan, J.* et al.: Estimated lifetime prevalences of autosomal mitochondrial disorders based on allele frequencies of pathogenic variants in exome databases. Eur. J. Neurol. 25, 31-31 (2018)
16.
Wagner, M. et al.: Biallelic mutations in SLC1A2; an additional mode of inheritance for SLC1A2-related epilepsy. Neuropediatrics 49, 59-62 (2018)
17.
Westphal, D.S. et al.: A de novo missense variant in POU3F2 identified in a child with global developmental delay. Neuropediatrics 49, 401-404 (2018)
18.
Xu, Z.* et al.: Bi-allelic mutations in Phe-tRNA synthetase associated with a multi-system pulmonary disease support non-translational function. Am. J. Hum. Genet. 103, 100-114 (2018)
19.
Krenn, M.* et al.: Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene. Eur. J. Neurol. 24, 741-747 (2017)
20.
Riedhammer, K.M.* et al.: Identification of a novel heterozygous de novo 7-bp frameshift deletion in PBX1 by whole-exome sequencing causing a multi-organ syndrome including bilateral dysplastic kidneys and hypoplastic clavicles. Front. Pediatr. 5:251 (2017)