PuSH - HMGU Publikationen https://push-zb.helmholtz-munich.de PuSH - Publikationen-Server des Helmholtz Zentrums München de-de <![CDATA[Foco, L.* et al. Genomic and molecular evidence that the LncRNA DSP-AS1 modulates desmoplakin expression. Hum. Genet., DOI: 10.1007/s00439-025-02761-x (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=75264&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=75264&la=de Fri, 01 Aug 2025 00:00:00 +0000 <![CDATA[Fallerini, C.* et al. Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity. Hum. Genet. 141, 147-173 (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=63783&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=63783&la=de Tue, 01 Feb 2022 00:00:00 +0000 <![CDATA[Graw, J. Mouse models for microphthalmia, anophthalmia and cataracts. Hum. Genet. 138, 1007-1018 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55782&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55782&la=de Mon, 01 Apr 2019 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55651&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55651&la=de Fri, 29 Mar 2019 00:00:00 +0000 <![CDATA[Bramswig, N.C.* et al. Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). Hum. Genet. 137, 753-768 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54214&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54214&la=de Wed, 19 Sep 2018 00:00:00 +0000 <![CDATA[Fritzen, D.* et al. De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies. Hum. Genet. 137, 401-411 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53645&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53645&la=de Wed, 20 Jun 2018 00:00:00 +0000 <![CDATA[Vill, K.* et al. SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy. Hum. Genet. 137, 911-919 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54779&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54779&la=de Thu, 06 Dec 2018 00:00:00 +0000 <![CDATA[Wesdorp, M.* et al. Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction. Hum. Genet. 137, 389-400 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53517&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53517&la=de Mon, 18 Jun 2018 00:00:00 +0000 <![CDATA[Bramswig, N.C.* et al. Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. Hum. Genet. 136, 179-192 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50034&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50034&la=de Thu, 01 Dec 2016 00:00:00 +0000 <![CDATA[Bramswig, N.C.* et al. Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype. Hum. Genet. 136, 297-305 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50458&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50458&la=de Fri, 17 Mar 2017 00:00:00 +0000 <![CDATA[Bramswig, N.C.* et al. Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. Hum. Genet. 136, 821-834 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50930&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50930&la=de Mon, 26 Jun 2017 00:00:00 +0000 <![CDATA[Hempel, M.* et al. Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies. Hum. Genet. 136, 339-346 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50536&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50536&la=de Wed, 22 Mar 2017 00:00:00 +0000 <![CDATA[Parenti, I.* et al. Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes. Hum. Genet. 136, 307-320 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50456&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50456&la=de Fri, 17 Mar 2017 00:00:00 +0000 <![CDATA[Brenner, D.R.* et al. Erratum to: Hierarchical modeling identifies novel lung cancer susceptibility variants in inflammation pathways among 10,140 cases and 11,012 controls. Hum. Genet. 135, 963-963 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=48764&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=48764&la=de Thu, 09 Jun 2016 00:00:00 +0000 <![CDATA[Bramswig, N.C.* et al. Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes. Hum. Genet. 134, 553-568 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=43792&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=43792&la=de Sat, 14 Mar 2015 00:00:00 +0000 <![CDATA[Bramswig, N.C.* et al. ‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband syndromes. Hum. Genet. 134, 1089-1097 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=46675&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=46675&la=de Mon, 31 Aug 2015 00:00:00 +0000 <![CDATA[Kuechler, A.* et al. De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: Expanding the mutational and clinical spectrum. Hum. Genet. 134, 97-109 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=32593&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=32593&la=de Wed, 22 Oct 2014 00:00:00 +0000 <![CDATA[Li, Q.* et al. Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: The CREAM consortium. Hum. Genet. 134, 131-146 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=34362&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=34362&la=de Thu, 06 Nov 2014 00:00:00 +0000 <![CDATA[Turpeinen, H.* et al. A genome-wide expression quantitative trait loci analysis of proprotein convertase subtilisin/kexin enzymes identifies a novel regulatory gene variant for FURIN expression and blood pressure. Hum. Genet. 134, 627-636 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=44095&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=44095&la=de Fri, 03 Apr 2015 00:00:00 +0000 <![CDATA[Ellis, J.* et al. Large multiethnic candidate gene study for C-reactive protein levels: Identification of a novel association at CD36 in African Americans. Hum. Genet. 133, 985-995 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=30926&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=30926&la=de Mon, 31 Mar 2014 00:00:00 +0000 <![CDATA[Brenner, D.R.* et al. Hierarchical modeling identifies novel lung cancer susceptibility variants in inflammation pathways among 10,140 cases and 11,012 controls. Hum. Genet. 132, 579-589 (2013)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=24382&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=24382&la=de Tue, 14 May 2013 00:00:00 +0000 <![CDATA[Verhoeven, V.J.M.* et al. Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium. Hum. Genet. 131, 1467-1480 (2012)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=8555&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=8555&la=de Fri, 21 Sep 2012 00:00:00 +0000 <![CDATA[Fauth, C. et al. Micro-array analysis decipher exceptional complex familial chromosomal rearrangement. Hum. Genet. 119, 145-153 (2006)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=5087&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=5087&la=de Wed, 02 Aug 2006 00:00:00 +0000 <![CDATA[Pfuhl, T.* et al. Biochemical charcterisation of the proteins encoded by the Di George critical region 6 (DGCR6). Hum. Genet. 117, 70-80 (2005)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=1284&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=1284&la=de Tue, 13 Dec 2005 00:00:00 +0000 <![CDATA[Müller, S.* ; Hollatz, M.* & Wienberg, J. Chromosomal phylogeny and evolution of gibbons (Hylobatidae). Hum. Genet. 113, 493-501 (2003)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=9428&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=9428&la=de Wed, 31 Dec 2003 00:00:00 +0000 <![CDATA[Lohmann, D. ; Horsthemke, B. ; Gillessen-Kaesbach, G. ; Stefani, F.H. & Höfler, H. Detection of small RB1 Gene Deletions in Retinoblastoma by Multiplex PCR and High- Resolution Gel Electrophoresis. Hum. Genet. 89, 49-53 (1992)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=20238&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=20238&la=de Thu, 31 Dec 1992 00:00:00 +0000 <![CDATA[Cazzola, M.* et al. Juvenile idiopathic haemochromatosis: A life-threatening disorder presenting as hypogonadotropic hypogonadism. Hum. Genet. 65, 149-154 (1983)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=41748&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=41748&la=de Mon, 31 Dec 1984 00:00:00 +0000 <![CDATA[Rauscher, K.H. & Bauchinger, M. Chromosome aberrations induced in patients treated with chemotherapeutic drugs and irradiation for acute lymphatic leukemia. Hum. Genet. 64, 73-79 (1983)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=41469&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=41469&la=de Fri, 30 Dec 1983 00:00:00 +0000 <![CDATA[Wiebel, F.J. ; Hlavica, P. & Grzeschik -, K.H. Expression of aromatic polycyclic hydrocarbon-induced monooxygenase (aryl hydrocarbon hydroxylase) in man x mouse hybrids is associated with human chromosome 2. Hum. Genet. 59, 277-280 (1981)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=41423&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=41423&la=de Wed, 30 Dec 1981 00:00:00 +0000 <![CDATA[Niese, D.* et al. Evidence for subtypic determinants in the HLA-DW3 cluster. Hum. Genet. 43, 23-30 (1978)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=42530&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=42530&la=de Sun, 31 Dec 1978 00:00:00 +0000 <![CDATA[Röhrborn, G.* et al. Effects of isoniazid (INH) on the oogenesis of mice. Hum. Genet. 42, 55-58 (1978)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=40952&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=40952&la=de Sun, 31 Dec 1978 00:00:00 +0000 <![CDATA[Rittner, C.K.* ; Opferkuch, W.* ; Wellek, B.* ; Grosse-Wilde, H. & Wernet, P.A.* Lack of linkage between gene(s) controlling the synthesis of the seventh component of complement and the HLA region on chromosome No. 6 in man. Hum. Genet. 34, 137-142 (1976)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=33096&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=33096&la=de Thu, 28 Oct 1976 00:00:00 +0000 <![CDATA[Rittner, C.K.* et al. Linkage group HL-A-MLC-Bf (properdin factor B) - The site of the Bf locus at the immunogenetic linkage group on chromosome 6. Hum. Genet. 27, 173-183 (1975)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=41389&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=41389&la=de Tue, 07 Jan 1975 00:00:00 +0000 <![CDATA[Back, F. ; Pohl, W. & Olbrich, E. Investigations of defining the arm ratio of the late replicating X-chromosome in man Hum. Genet. 12, 302-315 (1971)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=42095&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=42095&la=de Thu, 30 Dec 1971 00:00:00 +0000 <![CDATA[Lampert, F.H. Attachment of human chromatin fibers to the nuclear membrane, as seen by electron microscopy. Hum. Genet. 13, 285-295 (1971)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=33638&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=33638&la=de Thu, 30 Dec 1971 00:00:00 +0000 <![CDATA[Bauchinger, M. & Schmid, E. Ein Fall mit balancierter (14p+; 15p-)-Translokation. Hum. Genet. 8, 312-320 (1970)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=42216&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=42216&la=de Thu, 14 May 1970 00:00:00 +0000 <![CDATA[Murken, J.D. et al. Trisomy D2 in a 21/2 years old girl (47,XX,14+). Hum. Genet. 10, 254-268 (1970)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=42524&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=42524&la=de Wed, 30 Sep 1970 00:00:00 +0000