PuSH - Publication Server of Helmholtz Zentrum München

317 Records found.
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1.
Amar, Y.* et al.: Skin microbiome diversity and transcriptome profiling in patients with atopic dermatitis. Exp. Dermatol. 28, E8-E9 (2019)
2.
Angelidis, I. et al.: An atlas of the aging lung mapped by single cell transcriptomics and deep tissue proteomics. Nat. Commun. 10:963 (2019)
3.
Beygo, J.* ; Bürger, J.* ; Strom, T.M. ; Kaya, S.* & Buiting, K.*: Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment. Eur. J. Hum. Genet. 27, 903-908 (2019)
4.
Dusl, M.* et al.: Congenital myasthenic syndrome caused by novel COL13A1 mutations. J. Neurol. 266, 1107-1112 (2019)
5.
Feichtinger, R.G.* et al.: Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. Genet. Med., accepted (2019)
6.
Flannick, J.* et al.: Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls. Nature 570, 71-76 (2019)
7.
Forouhideh, Y.* et al.: A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification. Brain 142, e4 (2019)
8.
Fountain, M.D.* et al.: Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. Genet. Med., accepted (2019)
9.
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)
10.
Mahler, E.A.* et al.: Exome sequencing in children undiagnosed developmental delay and neurological illness. Dtsch. Arztebl. Int. 116, 197-204 (2019)
11.
Park, J.* et al.: KCNC1-related disorders: New de novo variants expand the phenotypic spectrum. Ann. Clin. Transl. Neurol., accepted (2019)
12.
Pilz, R.A.* et al.: Exome sequencing identifies a recurrent SOX2 deletion in a patient with gait ataxia and dystonia lacking major ocular malformations. J. Neurol. Sci. 401, 34-36 (2019)
13.
Quarta, C. et al.: Functional identity of hypothalamic melanocortin neurons depends on Tbx3. Nat. Metab. 1, 222-235 (2019)
14.
Rath, M.* et al.: Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing. Am. J. Med. Genet. A 179, 295-299 (2019)
15.
Sbiera, S.* et al.: Driver mutations in USP8 wild type Cushing's disease. Neuro. Oncol., accepted (2019)
16.
Verheije, R.* et al.: Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability. Eur. J. Hum. Genet. 27, 278-290 (2019)
17.
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)
18.
Alhaddad, B.* et al.: PRUNE1 deficiency: Expanding the clinical and genetic spectrum. Neuropediatrics 49, 330-338 (2018)
19.
Baumann, M.* et al.: MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy. Clin. Genet. 95, 182-186 (2018)
20.
Beck, A.* et al.: Overexpression of UHRF1 promotes silencing of tumor suppressor genes and predicts outcome in hepatoblastoma. Clin. Epigenet. 10:27 (2018)