PuSH - Publication Server of Helmholtz Zentrum München

243 Records found.
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1.
Eraslan, B.* et al.: Quantification and discovery of sequence determinants of protein-per-mRNA amount in 29 human tissues. Mol. Syst. Biol. 15:e8513 (2019)
2.
Feichtinger, R.G.* et al.: Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. Genet. Med., accepted (2019)
3.
Karlsson Linnér, R.* et al.: Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. Nat. Genet. 51, 245-257 (2019)
4.
Saoura, M.* et al.: Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing. Hum. Mutat., accepted (2019)
5.
Schlicht, K.* et al.: The metabolic network coherence of human transcriptomes is associated with genetic variation at the cadherin 18 locus. Hum. Genet. 138, 375–388 (2019)
6.
Stalke, A.* et al.: Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export. Eur. J. Hum. Genet. 27, 879-887 (2019)
7.
Timmers, P.R.* et al.: Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances. eLife 8:e39856 (2019)
8.
Van Bergen, N.J.* et al.: NAD(P)HX dehydratase (NAXD) deficiency: A novel neurodegenerative disorder exacerbated by febrile illnesses. Brain 142, 50-58 (2019)
9.
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)
10.
Alhaddad, B.* et al.: PRUNE1 deficiency: Expanding the clinical and genetic spectrum. Neuropediatrics 49, 330-338 (2018)
11.
Alston, C.L.* et al.: Biallelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency. Am. J. Hum. Genet. 103, 592-601 (2018)
12.
Aslibekyan, S.* et al.: Association of methylation signals with incident coronary heart disease in an epigenome-wide assessment of circulating tumor necrosis factor. JAMA Cardiol. 3, 463-472 (2018)
13.
Brechtmann, F.* et al.: OUTRIDER: A statistical method for detecting aberrantly expressed genes in RNA sequencing data. Am. J. Hum. Genet. 103, 907-917 (2018)
14.
Charif, M.* et al.: Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults. JAMA Neurol. 75, 105-113 (2018)
15.
Danhauser, K. et al.: Bi-allelic ADPRHL2 mutations cause neurodegeneration with developmental delay, ataxia, and axaonal neuropathy. Am. J. Hum. Genet. 103, 817-825 (2018)
16.
Gauthier, J.* et al.: Recessive mutations in > VPS13D cause childhood onset movement disorders. Ann. Neurol. 83, 1089-1095 (2018)
17.
Iuso, A. et al.: Mutations in PPCS, encoding phosphopantothenoylcysteine synthetase, cause autosomal-recessive dilated cardiomyopathy. Am. J. Hum. Genet. 102, 1018-1030 (2018)
18.
Iuso, A. et al.: A homozygous splice site mutation in SLC25A42, encoding the mitochondrial transporter of coenzyme A, causes metabolic crises and epileptic encephalopathy. JIMD Rep., accepted (2018)
19.
Kovács-Nagy, R.* et al.: HTRA2 defect: A recognizable inborn error of metabolism with 3-methylglutaconic aciduria as discriminating feature characterized by neonatal movement disorder and epilepsy-report of 11 patients. Neuropediatrics 49, 373-378 (2018)
20.
Kremer, L.S. ; Wortmann, S.B. & Prokisch, H.: "Transcriptomics": Molecular diagnosis of inborn errors of metabolism via RNA-sequencing. J. Inherit. Metab. Dis. 41, 525-532 (2018)