PuSH - HMGU Publikationen https://push-zb.helmholtz-munich.de PuSH - Publikationen-Server des Helmholtz Zentrums München de-de <![CDATA[Luo, S.* et al. Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome. Eur. J. Hum. Genet., DOI: 10.1038/s41431-025-01863-4 (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=74582&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=74582&la=de Tue, 20 May 2025 00:00:00 +0000 <![CDATA[Estévez-Arias, B.* et al. Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases. Eur. J. Hum. Genet. 33, 239-247 (2024)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=71858&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=71858&la=de Wed, 30 Oct 2024 00:00:00 +0000 <![CDATA[Estévez-Arias, B.* et al. Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases. Eur. J. Hum. Genet., DOI: 10.1038/s41431-024-01756-y (2024)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=72731&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=72731&la=de Thu, 12 Dec 2024 00:00:00 +0000 <![CDATA[Ferrera, G.* et al. WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: A case report. Eur. J. Hum. Genet., DOI: 10.1038/s41431-024-01745-1 (2024)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=72490&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=72490&la=de Wed, 27 Nov 2024 00:00:00 +0000 <![CDATA[Senftleber, N.K.* et al. GWAS of lipids in Greenlanders finds association signals shared with Europeans and reveals an independent PCSK9 association signal. Eur. J. Hum. Genet. 32, 215-223 (2024)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68739&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68739&la=de Tue, 28 Nov 2023 00:00:00 +0000 <![CDATA[Vater, M.* et al. Huntingtin CAG repeat size variations below the Huntington's disease threshold: Associations with depression, anxiety and basal ganglia structure. Eur. J. Hum. Genet., DOI: 10.1038/s41431-024-01737-1 (2024)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=72481&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=72481&la=de Mon, 02 Dec 2024 00:00:00 +0000 <![CDATA[Engel, C.* et al. BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. Eur. J. Hum. Genet. 31, 1023-1031 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68480&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68480&la=de Wed, 18 Oct 2023 00:00:00 +0000 <![CDATA[Figlioli, G.* et al. FANCM missense variants and breast cancer risk: A case-control association study of 75,156 European women. Eur. J. Hum. Genet. 31, 578-587 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67342&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67342&la=de Wed, 01 Feb 2023 00:00:00 +0000 <![CDATA[Oexle, K. et al. Episignature analysis of moderate effects and mosaics. Eur. J. Hum. Genet. 31, 1032-1039 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68488&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68488&la=de Wed, 18 Oct 2023 00:00:00 +0000 <![CDATA[Katsoula, G. et al. A molecular map of long non-coding RNA expression, isoform switching and alternative splicing in osteoarthritis. Eur. J. Hum. Genet. 30, 557-557 (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=64926&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=64926&la=de Thu, 23 Jun 2022 00:00:00 +0000 <![CDATA[Klingler, C.* et al. Stakeholder engagement to ensure the sustainability of biobanks: A survey of potential users of biobank services. Eur. J. Hum. Genet., DOI: 10.1038/s41431-021-00905-x (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62074&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62074&la=de Tue, 29 Jun 2021 00:00:00 +0000 <![CDATA[Reuter, M.S.* et al. Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies. Eur. J. Hum. Genet. 30, 611-618 (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=64628&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=64628&la=de Mon, 18 Jul 2022 00:00:00 +0000 <![CDATA[Braunisch, M.C.* et al. Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS. Eur. J. Hum. Genet. 29, 262–270 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60025&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60025&la=de Tue, 27 Oct 2020 00:00:00 +0000 <![CDATA[Appelhof, B.* et al. Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. Eur. J. Hum. Genet. 29, 411–421 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60507&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60507&la=de Wed, 18 Nov 2020 00:00:00 +0000 <![CDATA[Sharma, R. et al. Association between prenatal stress and infant DNA methylation. Eur. J. Hum. Genet. 28, 754-754 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61122&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61122&la=de Fri, 05 Mar 2021 00:00:00 +0000 <![CDATA[Alston, C.L.* et al. Mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency. Eur. J. Hum. Genet. 27, 182-183 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57193&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57193&la=de Mon, 28 Oct 2019 00:00:00 +0000 <![CDATA[Alston, C.L.* et al. Mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency. Eur. J. Hum. Genet. 27, 861-861 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57194&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57194&la=de Mon, 28 Oct 2019 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55534&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55534&la=de Thu, 14 Mar 2019 00:00:00 +0000 <![CDATA[Gusic, M. et al. Recessive mutations in UQCRFS1, encoding the Rieske iron-sulfur protein, are associated with mitochondrial complex III deficiency, lactic acidosis and cardiomyopathy. Eur. J. Hum. Genet. 27, 186-186 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57188&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57188&la=de Tue, 29 Oct 2019 00:00:00 +0000 <![CDATA[Iuso, A. et al. Mutationsin phosphopantothenoylcysteine synthetase (PPCS) cause dilated cardiomyopathy. Eur. J. Hum. Genet. 27, 819-819 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57192&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57192&la=de Mon, 28 Oct 2019 00:00:00 +0000 <![CDATA[Kuechler, A.* et al. De novo FBXO11 mutations are associated with intellectual disability, microcephaly and behavioural anomalies. Eur. J. Hum. Genet. 27, 228-229 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57190&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57190&la=de Mon, 28 Oct 2019 00:00:00 +0000 <![CDATA[Marlin, S.* et al. PRPS1loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy. Eur. J. Hum. Genet. 27, 1239-1239 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57180&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57180&la=de Tue, 29 Oct 2019 00:00:00 +0000 <![CDATA[Mertes, C.* et al. When the outlier is the signal: Denoising autoencoders to pinpoint causes of rare diseases from RNA-seq data. Eur. J. Hum. Genet. 27, 1711-1712 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57178&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57178&la=de Tue, 29 Oct 2019 00:00:00 +0000 <![CDATA[Oplopoiou, M.* et al. The role of Trp53 in chemical-induced lung adenocarcinoma. Eur. J. Hum. Genet. 27, 470-471 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57184&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57184&la=de Tue, 29 Oct 2019 00:00:00 +0000 <![CDATA[Parenti, I.* et al. Novel gene and pathomechanism in Cornelia de Lange syndrome. Eur. J. Hum. Genet. 27, 830-831 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57191&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57191&la=de Mon, 28 Oct 2019 00:00:00 +0000 <![CDATA[Piekutowska-Abramczuk, D.* et al. Novel FDXR pathogenic variants expand the clinical spectrum related to human ferredoxin reductase defects. Eur. J. Hum. Genet. 27, 172-173 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57189&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57189&la=de Mon, 28 Oct 2019 00:00:00 +0000 <![CDATA[Pollazzon, M.* et al. Patient with a novel variant in CREBBP exon 31 and without a typical Rubinstein-Taybi phenotype. Eur. J. Hum. Genet. 27, 354-354 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57182&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57182&la=de Tue, 29 Oct 2019 00:00:00 +0000 <![CDATA[Riedhammer, K.M.* et al. Exome sequencing identifies phenocopies in every fifth solved case in a cohort of 174 patients with hereditary nephropathies. Eur. J. Hum. Genet. 27, 1145-1146 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57177&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57177&la=de Tue, 29 Oct 2019 00:00:00 +0000 <![CDATA[Sorg, T.* et al. Generation of the Cancer Pathway Prototype - a platform for predictive cancer pathway modeling. Eur. J. Hum. Genet. 27, 571-572 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57186&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57186&la=de Tue, 29 Oct 2019 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55509&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55509&la=de Wed, 13 Mar 2019 00:00:00 +0000 <![CDATA[Stenton, S. et al. The genetic landscape of mitochondrial disease: A study of 1116 exomes. Eur. J. Hum. Genet. 27, 816-817 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57195&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57195&la=de Mon, 28 Oct 2019 00:00:00 +0000 <![CDATA[Tilch, E. et al. Explaining RLS families using risk SNPs from GWAS. Eur. J. Hum. Genet. 27, 658-659 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57187&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57187&la=de Tue, 29 Oct 2019 00:00:00 +0000 <![CDATA[Van Bergen, N.J.* et al. NAXDmutations cause a novel neurodegenerative disorder exacerbated by febrile illnesses. Eur. J. Hum. Genet. 27, 751-752 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57197&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57197&la=de Mon, 28 Oct 2019 00:00:00 +0000 <![CDATA[van Setten, J.* et al. Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits. Eur. J. Hum. Genet. 27, 952-962 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55414&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55414&la=de Thu, 07 Mar 2019 00:00:00 +0000 <![CDATA[Vasileiou, G.* et al. Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome. Eur. J. Hum. Genet. 27, 805-806 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57196&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57196&la=de Mon, 28 Oct 2019 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54514&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54514&la=de Wed, 24 Oct 2018 00:00:00 +0000 <![CDATA[Vidali, S.* et al. A homozygous two exon deletion in UQCRH: Matching mouse and human phenotype. Eur. J. Hum. Genet. 27, 818-819 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57183&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57183&la=de Tue, 29 Oct 2019 00:00:00 +0000 <![CDATA[Puusepp, S.* et al. Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency. Eur. J. Hum. Genet. 26, 407-419 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52805&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52805&la=de Mon, 19 Mar 2018 00:00:00 +0000 <![CDATA[Chen, G.B.* et al. Across-cohort QC analyses of GWAS summary statistics from complex traits. Eur. J. Hum. Genet. 25, 137-146 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52918&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52918&la=de Fri, 09 Feb 2018 00:00:00 +0000 <![CDATA[Herebian, D.* et al. Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities. Eur. J. Hum. Genet. 25, 1092-1095 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51352&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51352&la=de Wed, 19 Jul 2017 00:00:00 +0000 <![CDATA[Kuechler, A.* et al. Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: A recognizable condition. Eur. J. Hum. Genet. 25, 183-191 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50815&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50815&la=de Mon, 19 Jun 2017 00:00:00 +0000 <![CDATA[Redler, S.* et al. Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID. Eur. J. Hum. Genet. 25, 889-893 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50964&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50964&la=de Mon, 03 Jul 2017 00:00:00 +0000 <![CDATA[Umair, M.* et al. Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb. Eur. J. Hum. Genet. 25, 960-965 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51594&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51594&la=de Mon, 31 Jul 2017 00:00:00 +0000 <![CDATA[Amin, N.* et al. Genetic variants in RBFOX3 are associated with sleep latency. Eur. J. Hum. Genet. 24, 1488-1495 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=48660&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=48660&la=de Wed, 25 May 2016 00:00:00 +0000 <![CDATA[Danhauser, K.* et al. Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9. Eur. J. Hum. Genet. 24, 450-454 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=45334&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=45334&la=de Fri, 19 Jun 2015 00:00:00 +0000 <![CDATA[Mayer, A.K.* et al. Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation. Eur. J. Hum. Genet. 24, 459-462 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=46308&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=46308&la=de Sun, 12 Jul 2015 00:00:00 +0000 <![CDATA[Schäfgen, J.* et al. De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth. Eur. J. Hum. Genet. 24, 1739-1745 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=49132&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=49132&la=de Mon, 25 Jul 2016 00:00:00 +0000 <![CDATA[Seco, C.Z.* et al. Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. Eur. J. Hum. Genet. 24, 542-549 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=46368&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=46368&la=de Fri, 17 Jul 2015 00:00:00 +0000 <![CDATA[Srivastava, S.* et al. Loss-of-function variants in HIVEP2 are a cause of intellectual disability. Eur. J. Hum. Genet. 24, 556-561 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=46307&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=46307&la=de Sun, 12 Jul 2015 00:00:00 +0000 <![CDATA[Brænne, I.* et al. Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction. Eur. J. Hum. Genet. 24, 191-197 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=45110&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=45110&la=de Fri, 05 Jun 2015 00:00:00 +0000 <![CDATA[Cheng, T.H.* et al. Common colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP. Eur. J. Hum. Genet. 23, 260-263 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=43126&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=43126&la=de Wed, 31 Dec 2014 00:00:00 +0000 <![CDATA[Collet, M.* et al. High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood. Eur. J. Hum. Genet., DOI: 10.1038/ejhg.2015.264 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=47550&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=47550&la=de Sat, 31 Dec 2016 00:00:00 +0000 <![CDATA[Dondorp, W.* et al. Non-invasive prenatal testing for aneuploidy and beyond: Challenges of responsible innovation in prenatal screening. Eur. J. Hum. Genet. 23, 1438-1450 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=43874&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=43874&la=de Fri, 20 Mar 2015 00:00:00 +0000 <![CDATA[Dondorp, W.* et al. Non-invasive prenatal testing for aneuploidy and beyond: Challenges of responsible innovation in prenatal screening. Summary and recommendations. Eur. J. Hum. Genet., DOI: 10.1038/ejhg.2015.56 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=44100&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=44100&la=de Fri, 03 Apr 2015 00:00:00 +0000 <![CDATA[Oláhová, M.* et al. A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency. Eur. J. Hum. Genet. 23, 935-939 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=32509&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=32509&la=de Fri, 10 Oct 2014 00:00:00 +0000 <![CDATA[Schulte, E.C. et al. Rare variants in β-Amyloid Precursor Protein (APP) and Parkinson's disease. Eur. J. Hum. Genet. 23, 1328-1333 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=43156&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=43156&la=de Fri, 23 Jan 2015 00:00:00 +0000 <![CDATA[Spjuth, O.* et al. Harmonising and linking biomedical and clinical data across disparate data archives to enable integrative cross-biobank research. Eur. J. Hum. Genet. 24, 521-528 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=46646&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=46646&la=de Fri, 28 Aug 2015 00:00:00 +0000 <![CDATA[Budin-Ljosne, I.* et al. Data sharing in large research consortia: Experiences and recommendations from ENGAGE. Eur. J. Hum. Genet. 22, 317-321 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=30821&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=30821&la=de Mon, 24 Mar 2014 00:00:00 +0000 <![CDATA[Huckins, L.M.* et al. Using ancestry-informative markers to identify fine structure across 15 populations of European origin. Eur. J. Hum. Genet. 22, 1190-1200 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=30837&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=30837&la=de Tue, 25 Mar 2014 00:00:00 +0000 <![CDATA[Kuechler, A.* et al. Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. Eur. J. Hum. Genet. 23, 753-760 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=31960&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=31960&la=de Fri, 22 Aug 2014 00:00:00 +0000 <![CDATA[Malzahn, D.* et al. Controversial association results for INSIG2 on body mass index may be explained by interactions with age and with MC4R. Eur. J. Hum. Genet. 22, 1217-1224 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=32621&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=32621&la=de Mon, 27 Oct 2014 00:00:00 +0000 <![CDATA[Rogowski, W.H. ; Grosse, S.D.* ; Schmidtke, J.* & Marckmann, G.* Criteria for fairly allocating scarce health-care resources to genetic tests: Which matter most? Eur. J. Hum. Genet. 22, 25-31 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=28918&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=28918&la=de Tue, 31 Dec 2013 00:00:00 +0000 <![CDATA[Severin, F. et al. Points to consider for prioritizing clinical genetic testing services:  European consensus process oriented at accountability for reasonableness. Eur. J. Hum. Genet. 23, 729-735 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=32372&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=32372&la=de Fri, 26 Sep 2014 00:00:00 +0000 <![CDATA[Broer, L.* et al. Meta-analysis of telomere length in 19713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect. Eur. J. Hum. Genet. 21, 1163-1168 (2013)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=26096&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=26096&la=de Tue, 30 Jul 2013 00:00:00 +0000 <![CDATA[Esko, T.* et al. Genetic characterization of Northeastern Italian population isolates in the context of broader European genetic diversity. Eur. J. Hum. Genet. 21, 659-665 (2013)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=25496&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=25496&la=de Thu, 04 Jul 2013 00:00:00 +0000 <![CDATA[Hedberg, C.* ; Melberg, A.* ; Kuhl, A.* ; Jenne, D. & Oldfors, A.* Functional characterization of desmin mutant p.P419S Reply. Eur. J. Hum. Genet. 21, 590 (2013)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=25503&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=25503&la=de Fri, 05 Jul 2013 00:00:00 +0000 <![CDATA[Mehta, D. et al. Impact of common regulatory single-nucleotide variants on gene expression profiles in whole blood. Eur. J. Hum. Genet. 21, 48-54 (2013)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=11164&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=11164&la=de Fri, 30 Nov 2012 00:00:00 +0000 <![CDATA[Oexle, K.* et al. Dilution of candidates: The case of iron-related genes in restless legs syndrome. Eur. J. Hum. Genet. 21, 410-414 (2013)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=11857&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=11857&la=de Mon, 31 Dec 2012 00:00:00 +0000 <![CDATA[Rebala, K.* et al. Contemporary paternal genetic landscape of Polish and German populations: From early medieval Slavic expansion to post-World War II resettlements. Eur. J. Hum. Genet. 21, 415-422 (2013)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=24327&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=24327&la=de Thu, 09 May 2013 00:00:00 +0000 <![CDATA[Severin, F. ; Schmidtke, J.* ; Mühlbacher, A.* & Rogowski, W.H. Eliciting preferences for priority setting in genetic testing: A pilot study comparing best-worst scaling and discrete-choice experiments. Eur. J. Hum. Genet. 21, 1202-1208 (2013)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=23721&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=23721&la=de Tue, 09 Apr 2013 00:00:00 +0000 <![CDATA[Zaboli, G.* et al. Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits. Eur. J. Hum. Genet. 20, 77-83 (2012)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=7118&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=7118&la=de Wed, 08 Feb 2012 00:00:00 +0000 <![CDATA[Becker, F.* et al. Genetic testing and common disorders in a public health framework: How to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders. Eur. J. Hum. Genet. 19, S6-S44 (2011)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=6432&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=6432&la=de Tue, 02 Aug 2011 00:00:00 +0000 <![CDATA[Demirkan, A.* et al. Genetic architecture of circulating lipid levels. Eur. J. Hum. Genet. 19, 813-819 (2011)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4218&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4218&la=de Fri, 12 Aug 2011 00:00:00 +0000 <![CDATA[Bouzigon, E.* et al. Meta-analysis of 20 genome-wide linkage studies evidenced new regions linked to asthma and atopy. Eur. J. Hum. Genet. 18, 700-706 (2010)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=1582&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=1582&la=de Tue, 22 Jun 2010 00:00:00 +0000 <![CDATA[Halapi, E.* et al. A sequence variant on 17q21 is associated with age at onset and severity of asthma. Eur. J. Hum. Genet. 18, 902-908 (2010)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4250&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4250&la=de Wed, 20 Oct 2010 00:00:00 +0000 <![CDATA[O'Dushlaine, C.* et al. Genes predict village of origin in rural Europe. Eur. J. Hum. Genet. 18, 1269-1270 (2010)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4487&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4487&la=de Mon, 06 Dec 2010 00:00:00 +0000 <![CDATA[Lu, T.T.* et al. An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population. Eur. J. Hum. Genet. 17, 967-975 (2009)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=796&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=796&la=de Thu, 31 Dec 2009 00:00:00 +0000 <![CDATA[Wjst, M. ; Lichtner, P. ; Meitinger, T. & Grimbacher, B.* STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families. Eur. J. Hum. Genet. 17, 352-356 (2009)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=5555&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=5555&la=de Mon, 24 Nov 2008 00:00:00 +0000 <![CDATA[Collin, R.W.* et al. Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer. Eur. J. Hum. Genet. 16, 1430-1436 (2008)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4378&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4378&la=de Wed, 31 Dec 2008 00:00:00 +0000 <![CDATA[Wermter, A.K.* et al. Preferential reciprocal transfer of paternal/maternal DLK1 alleles to obese children: First evidence of polar overdominance in humans. Eur. J. Hum. Genet. 16, 1126-1134 (2008)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=3544&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=3544&la=de Tue, 21 Oct 2008 00:00:00 +0000 <![CDATA[Yang, P.* et al. Polymorphisms in the cardiac sodium channel promoter displaying variant in vitro expression activity. Eur. J. Hum. Genet. 16, 350-357 (2008)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2427&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2427&la=de Tue, 21 Oct 2008 00:00:00 +0000 <![CDATA[Pfeufer, A. Genetics of the ECG: QT or not QT- A genetic analysis of a complex electrophysiological trait confirms several previously detected associations. Eur. J. Hum. Genet. 15, 909-910 (2007)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4627&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4627&la=de Mon, 31 Dec 2007 00:00:00 +0000 <![CDATA[Mackevics, V.* et al. The adiponectin gene is associated with adiponectin levels but not with characteristics of the insulin resistance syndrome in healthy Caucasians. Eur. J. Hum. Genet. 14, 349-356 (2006)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=858&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=858&la=de Fri, 04 Aug 2006 00:00:00 +0000 <![CDATA[Grabowski, M. et al. The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. Eur. J. Hum. Genet. 11, 138-144 (2003)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=9532&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=9532&la=de Wed, 31 Dec 2003 00:00:00 +0000 <![CDATA[Golla, A. et al. Chronic recurrent multifocal osteomyelitis (CRMO) : Evidence for a susceptibility gene located on chromosome 18q21.3-18q22. Eur. J. Hum. Genet. 10, 217-221 (2002)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=22004&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=22004&la=de Mon, 02 Dec 2002 00:00:00 +0000