PuSH - HMGU Publikationen https://push-zb.helmholtz-munich.de PuSH - Publikationen-Server des Helmholtz Zentrums München de-de <![CDATA[Zanti, M.* et al. A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2. Hum. Mutat. 2023:17 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=69795&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=69795&la=de Tue, 16 Jan 2024 00:00:00 +0000 <![CDATA[Scala, M.* et al. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum. Mutat. 43, 403-419 (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=64010&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=64010&la=de Tue, 31 May 2022 00:00:00 +0000 <![CDATA[Smirnov, D. ; Schlieben, L.D. ; Peymani, F. ; Berutti, R. & Prokisch, H. Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes. Hum. Mutat. 43, 1056-1070 (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=65473&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=65473&la=de Fri, 23 Sep 2022 00:00:00 +0000 <![CDATA[Itai, T.* et al. De novo variants in CELF2  that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy. Hum. Mutat. 42, 66-76 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60596&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60596&la=de Mon, 30 Nov 2020 00:00:00 +0000 <![CDATA[Neuser, S.* et al. Clinical, neuroimaging and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Hum. Mutat. 42, 762-776 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61776&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61776&la=de Mon, 07 Jun 2021 00:00:00 +0000 <![CDATA[Stenton, S. et al. Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance. Hum. Mutat. 42, 310-319 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60970&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60970&la=de Thu, 14 Jan 2021 00:00:00 +0000 <![CDATA[Torraco, A.* et al. Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation. Hum. Mutat. 42, 699-710 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61540&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61540&la=de Wed, 12 May 2021 00:00:00 +0000 <![CDATA[Ascari, G.* et al. Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility. Hum. Mutat. 41, 998-1011 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=58688&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=58688&la=de Thu, 26 Mar 2020 00:00:00 +0000 <![CDATA[Saoura, M.* et al. Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3 '-end processing. Hum. Mutat. 40, 1731-1748 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55976&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55976&la=de Tue, 14 May 2019 00:00:00 +0000 <![CDATA[Suleiman, J.* et al. Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies. Hum. Mutat. 40, 1985-1992 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56343&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56343&la=de Wed, 26 Jun 2019 00:00:00 +0000 <![CDATA[Bruni, F.* et al. Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease. Hum. Mutat. 39, 563-578 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52701&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52701&la=de Thu, 11 Jan 2018 00:00:00 +0000 <![CDATA[El-Hattab, A.W.* et al. Molecular and clinical spectra of FBXL4 deficiency. Hum. Mutat. 38, 1649-1659 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52274&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52274&la=de Wed, 15 Nov 2017 00:00:00 +0000 <![CDATA[Kreimer, A.* et al. Predicting gene expression in massively parallel reporter assays: A comparative study. Hum. Mutat. 38, 1240-1250 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50642&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50642&la=de Wed, 24 May 2017 00:00:00 +0000 <![CDATA[Wambach, J.A.* et al. Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). Hum. Mutat. 38, 1477-1484 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52128&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52128&la=de Thu, 19 Oct 2017 00:00:00 +0000 <![CDATA[Wortmann, S.B. et al. Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy. Hum. Mutat. 38, 1786-1795 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51893&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51893&la=de Mon, 25 Sep 2017 00:00:00 +0000 <![CDATA[Bögershausen, N.* et al. Mutation update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2. Hum. Mutat. 37, 847-864 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=48929&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=48929&la=de Tue, 05 Jul 2016 00:00:00 +0000 <![CDATA[Diodato, D.* et al. VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. Hum. Mutat. 35, 983-989 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=31535&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=31535&la=de Wed, 04 Jun 2014 00:00:00 +0000 <![CDATA[Baruffini, E.* et al. MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. Hum. Mutat. 34, 1501-1509 (2013)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=27564&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=27564&la=de Fri, 27 Sep 2013 00:00:00 +0000 <![CDATA[Parzefall, T.* et al. Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice. Hum. Mutat. 34, 1102-1110 (2013)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=25697&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=25697&la=de Tue, 09 Jul 2013 00:00:00 +0000 <![CDATA[Horn, D.* et al. Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Hum. Mutat. 31, E1851-E1860 (2010)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=618&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=618&la=de Thu, 23 Dec 2010 00:00:00 +0000 <![CDATA[Molatore, S. et al. A novel germline CDKN1B mutation causing multiple endocrine tumors: Clinical, genetic and functional characterization. Hum. Mutat. 31, E1825-E1835 (2010)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2160&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2160&la=de Mon, 29 Nov 2010 00:00:00 +0000 <![CDATA[Fritsche, L.G.* et al. Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene. Hum. Mutat. 30, 1048-1053 (2009)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2466&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2466&la=de Thu, 03 Sep 2009 00:00:00 +0000 <![CDATA[Collin, R.W.* et al. Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. Hum. Mutat. 28, 718-723 (2007)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2727&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2727&la=de Sun, 22 Jul 2007 00:00:00 +0000 <![CDATA[Fisher, S.A.* et al. Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD). Hum. Mutat. 28, 406-413 (2007)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4167&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4167&la=de Mon, 23 Apr 2007 00:00:00 +0000 <![CDATA[Schoenborn, V.* et al. Sample selection algorithm to improve quality of genotyping from plasma-derived DNA: To separate the wheat from the chaff. Hum. Mutat. 28, 1141-1149 (2007)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4769&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4769&la=de Mon, 31 Dec 2007 00:00:00 +0000 <![CDATA[Kalay, E.* et al. Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Hum. Mutat. 27, 633-639 (2006)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4533&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4533&la=de Tue, 01 Aug 2006 00:00:00 +0000 <![CDATA[Jaremko, M.* et al. MALDI-TOF MS and TaqMan® assisted SNP genotyping of DNA isolated from formalin-fixed and paraffin-embedded tissues (FFPET). Hum. Mutat. 25, 232-238 (2005)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4547&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4547&la=de Fri, 18 Mar 2005 00:00:00 +0000 <![CDATA[Rubie, C.* et al. Sequence diversity of KIAA0027/MLC1: Are megalencephalic leukoencephalopathy and schizophrenia allelic disorders? Hum. Mutat. 21, 45-52 (2003)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=22431&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=22431&la=de Wed, 31 Dec 2003 00:00:00 +0000 <![CDATA[Calzada-Wack, J. et al. Analysis of the PTCH Coding Region in Human Rhabdomyosarcoma. Hum. Mutat. 20, 233-234 (2002)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=9529&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=9529&la=de Tue, 14 Oct 2003 00:00:00 +0000 <![CDATA[von Brederlow, B.* et al. Identification and In Vitro Expression of Novel CDH23 Mutations of Patients with Usher Syndrome Type 1D. Hum. Mutat. 19, 268-273 (2002)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=9528&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=9528&la=de Mon, 02 Dec 2002 00:00:00 +0000 <![CDATA[Werner, M. et al. Large-Scale Determination of SNP Allele Frequencies in DNA Pools Using MALDI-TOF Mass Spectrometry. Hum. Mutat. 20, 57-64 (2002)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=22066&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=22066&la=de Tue, 31 Dec 2002 00:00:00 +0000