PuSH - HMGU Publikationen https://push-zb.helmholtz-munich.de PuSH - Publikationen-Server des Helmholtz Zentrums München de-de <![CDATA[Dybdahl Krebs, M.* et al. The relationship between genotype- and phenotype-based estimates of genetic liability to psychiatric disorders, in practice and in theory. Am. J. Hum. Genet. 113, 184-201 (2026)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=76381&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=76381&la=de Fri, 23 Jan 2026 00:00:00 +0000 <![CDATA[Morsy, H.* et al. MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy. Am. J. Hum. Genet. 113, 380-391 (2026)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=76700&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=76700&la=de Wed, 11 Mar 2026 00:00:00 +0000 <![CDATA[Antonicka, H.* et al. Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome. Am. J. Hum. Genet. 112, 1699-1710 (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=74909&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=74909&la=de Thu, 26 Jun 2025 00:00:00 +0000 <![CDATA[Lessel, I.* et al. DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders. Am. J. Hum. Genet. 112, 394-413 (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73015&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73015&la=de Thu, 20 Mar 2025 00:00:00 +0000 <![CDATA[Ratajczak, F. ; Heinig, M. & Falter-Braun, P. Exploring the omnigenic architecture of selected complex traits. Am. J. Hum. Genet. 112, 2115-2137 (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=75313&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=75313&la=de Wed, 05 Nov 2025 00:00:00 +0000 <![CDATA[Smith, T.B.* et al. Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype. Am. J. Hum. Genet. 112, 59-74 (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=71996&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=71996&la=de Wed, 08 Jan 2025 00:00:00 +0000 <![CDATA[Zuber, V.* ; Cronjé, T.* ; Cai, N. ; Gill, D.* & Bottolo, L.* Bayesian causal graphical model for joint Mendelian randomization analysis of multiple exposures and outcomes. Am. J. Hum. Genet. 112, 1173-1198 (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73986&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73986&la=de Sat, 10 May 2025 00:00:00 +0000 <![CDATA[Brugger, M.* et al. Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy. Am. J. Hum. Genet. 111, 594-613 (2024)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=70102&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=70102&la=de Mon, 29 Apr 2024 00:00:00 +0000 <![CDATA[Dybdahl Krebs, M.* et al. Genetic liability estimated from large-scale family data improves genetic prediction, risk score profiling, and gene mapping for major depression. Am. J. Hum. Genet., DOI: 10.1016/j.ajhg.2024.09.009 (2024)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=72200&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=72200&la=de Thu, 31 Oct 2024 00:00:00 +0000 <![CDATA[Kasela, S.* et al. Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects. Am. J. Hum. Genet. 111, 133-149 (2024)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68992&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68992&la=de Sun, 07 Jan 2024 00:00:00 +0000 <![CDATA[Katsoula, G. et al. Primary cartilage transcriptional signatures reflect cell-type-specific molecular pathways underpinning osteoarthritis. Am. J. Hum. Genet. 111, 2735-2755 (2024)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=72498&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=72498&la=de Wed, 27 Nov 2024 00:00:00 +0000 <![CDATA[Paul, M.S.* et al. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am. J. Hum. Genet. 111, 96-118 (2024)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68991&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68991&la=de Thu, 28 Mar 2024 00:00:00 +0000 <![CDATA[Broadaway, K.A.* et al. Loci for insulin processing and secretion provide insight into type 2 diabetes risk. Am. J. Hum. Genet. 110, 284-299 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67358&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67358&la=de Wed, 01 Feb 2023 00:00:00 +0000 <![CDATA[Calame, D.G.* et al. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am. J. Hum. Genet. 110, 1394-1413 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68088&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68088&la=de Fri, 06 Oct 2023 00:00:00 +0000 <![CDATA[De Santana Villasboas Arruda, A.L. et al. Genetic underpinning of the comorbidity between type 2 diabetes and osteoarthritis. Am. J. Hum. Genet. 110, 1304-1318 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68119&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68119&la=de Fri, 06 Oct 2023 00:00:00 +0000 <![CDATA[Guo, L.* et al. Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans. Am. J. Hum. Genet. 110, 1068-1085 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68420&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68420&la=de Wed, 18 Oct 2023 00:00:00 +0000 <![CDATA[Lee, O.W.* et al. Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding. Am. J. Hum. Genet. 110, 427-441 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67475&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67475&la=de Thu, 23 Feb 2023 00:00:00 +0000 <![CDATA[McCaw, Z.R.* et al. An allelic-series rare-variant association test for candidate-gene discovery. Am. J. Hum. Genet. 110, 1330-1342 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68067&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68067&la=de Fri, 06 Oct 2023 00:00:00 +0000 <![CDATA[Morra, A.* et al. The impact of coding germline variants on contralateral breast cancer risk and survival. Am. J. Hum. Genet. 110, 475-486 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67533&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67533&la=de Wed, 01 Mar 2023 00:00:00 +0000 <![CDATA[Muffels, I.J.J.* et al. Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration. Am. J. Hum. Genet. 110, 146-160 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67154&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67154&la=de Sun, 08 Jan 2023 00:00:00 +0000 <![CDATA[Rots, D.* et al. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. Am. J. Hum. Genet. 110, 963-978 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67926&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67926&la=de Fri, 06 Oct 2023 00:00:00 +0000 <![CDATA[Scheller, I.F. ; Lutz, K.* ; Mertes, C.* ; Yépez, V.A.* & Gagneur, J. Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index. Am. J. Hum. Genet. 110, 2056-2067 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68905&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68905&la=de Tue, 19 Dec 2023 00:00:00 +0000 <![CDATA[Schönauer, R.* et al. Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions. Am. J. Hum. Genet. 110, 998-1007 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67916&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67916&la=de Fri, 06 Oct 2023 00:00:00 +0000 <![CDATA[Smallwood, K.* et al. POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies. Am. J. Hum. Genet. 110, 809-825 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67684&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67684&la=de Fri, 06 Oct 2023 00:00:00 +0000 <![CDATA[Hindy, G.* et al. Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes. Am. J. Hum. Genet. 109, 81-96 (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=63893&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=63893&la=de Tue, 08 Feb 2022 00:00:00 +0000 <![CDATA[Kaiyrzhanov, R.* et al. Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement. Am. J. Hum. Genet. 109, 1692-1712 (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=66080&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=66080&la=de Fri, 18 Nov 2022 00:00:00 +0000 <![CDATA[Kreitmaier, P. et al. An epigenome-wide view of osteoarthritis in primary tissues. Am. J. Hum. Genet. 109, 1255-1271 (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=65450&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=65450&la=de Fri, 08 Jul 2022 00:00:00 +0000 <![CDATA[Marafi, D.* et al. A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode. Am. J. Hum. Genet. 109, 1713-1723 (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=66018&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=66018&la=de Thu, 17 Nov 2022 00:00:00 +0000 <![CDATA[Ramdas, S.* et al. A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids. Am. J. Hum. Genet. 109, 1366-1387 (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=65899&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=65899&la=de Wed, 09 Nov 2022 00:00:00 +0000 <![CDATA[Tessadori, F.* et al. Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. Am. J. Hum. Genet. 109, 750-758 (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=64550&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=64550&la=de Tue, 03 May 2022 00:00:00 +0000 <![CDATA[Baxter, J.S.* et al. Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element. Am. J. Hum. Genet. 108, 1190-1203 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62320&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62320&la=de Mon, 05 Jul 2021 00:00:00 +0000 <![CDATA[den Hoed, J.* et al. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. Am. J. Hum. Genet. 108, 346-356 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61198&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61198&la=de Wed, 14 Apr 2021 00:00:00 +0000 <![CDATA[Galatà, G.* et al. Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis. Am. J. Hum. Genet. 108, 284-294 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61116&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61116&la=de Mon, 08 Feb 2021 00:00:00 +0000 <![CDATA[Li, C.* et al. UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. Am. J. Hum. Genet. 108, 134-147 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60979&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60979&la=de Mon, 08 Feb 2021 00:00:00 +0000 <![CDATA[Richard, E.M.* et al. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. Am. J. Hum. Genet. 108, 2006-2016 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=63291&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=63291&la=de Thu, 02 Dec 2021 00:00:00 +0000 <![CDATA[Usmani, M.A.* et al. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy. Am. J. Hum. Genet. 108, 1330-1341 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62183&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=62183&la=de Thu, 01 Jul 2021 00:00:00 +0000 <![CDATA[Alston, C.L.* et al. Pathogenic bi-allelic mutations in NDUFAF8 cause leigh syndrome with an isolated complex I deficiency. Am. J. Hum. Genet. 106, 92-101 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57738&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57738&la=de Mon, 27 Jan 2020 00:00:00 +0000 <![CDATA[Gusic, M. et al. Bi-allelic UQCRFS1 variants are associated with mitochondrial complex III deficiency, cardiomyopathy, and Alopecia Totalis. Am. J. Hum. Genet. 106, 102-111 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57737&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57737&la=de Mon, 27 Jan 2020 00:00:00 +0000 <![CDATA[Husain, R.A.* et al. Bi-allelic HPDL variants cause a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia. Am. J. Hum. Genet. 107, 364-373 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59885&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59885&la=de Thu, 15 Oct 2020 00:00:00 +0000 <![CDATA[Li, C.* et al. Genome-wide association analysis in humans links nucleotide metabolism to leukocyte telomere length. Am. J. Hum. Genet. 106, 389-404 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=58529&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=58529&la=de Tue, 31 Mar 2020 00:00:00 +0000 <![CDATA[Schneider, R.* et al. DAAM2 variants cause nephrotic syndrome via actin dysregulation. Am. J. Hum. Genet. 107, 1113-1128 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60786&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60786&la=de Thu, 17 Dec 2020 00:00:00 +0000 <![CDATA[Wagner, M. et al. Bi-allelic variants in RALGAPA1 cause profound neurodevelopmental disability, muscular hypotonia, infantile spasms, and feeding abnormalities. Am. J. Hum. Genet. 106, 246-255 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=58871&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=58871&la=de Tue, 21 Apr 2020 00:00:00 +0000 <![CDATA[Wortmann, S.B. et al. Bi-allelic variants in TKFC encoding triokinase/FMN cyclase are associated with cataracts and multisystem disease. Am. J. Hum. Genet. 106, 256-263 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=58872&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=58872&la=de Tue, 21 Apr 2020 00:00:00 +0000 <![CDATA[Cousin, M.A.* et al. RINT1 Bi-allelic variations cause infantile-onset recurrent acute liver failure and skeletal abnormalities. Am. J. Hum. Genet. 105, 108-121 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56338&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56338&la=de Tue, 25 Jun 2019 00:00:00 +0000 <![CDATA[Diets, I.J.* et al. De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism. Am. J. Hum. Genet. 104, 758-766 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55790&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55790&la=de Thu, 04 Apr 2019 00:00:00 +0000 <![CDATA[Paine, I.* et al. Paralog studies augment gene discovery: DDX and DHX genes. Am. J. Hum. Genet. 105, 302-316 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56566&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56566&la=de Wed, 31 Jul 2019 00:00:00 +0000 <![CDATA[Reynhout, S.* et al. De novo mutations affecting the catalytic Cα subunit of PP2A (PPP2CA) cause syndromic intellectual disability resembling other PP2A-related neurodevelopmental disorders. Am. J. Hum. Genet. 104, 139-156 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55074&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55074&la=de Fri, 11 Jan 2019 00:00:00 +0000 <![CDATA[Spracklen, C.N.* et al. Exome-derived adiponectin-associated variants implicate obesity and lipid biology. Am. J. Hum. Genet. 105, 15-28 (2019)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56283&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56283&la=de Thu, 13 Jun 2019 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54392&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54392&la=de Tue, 02 Oct 2018 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54914&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54914&la=de Thu, 13 Dec 2018 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54597&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54597&la=de Tue, 30 Oct 2018 00:00:00 +0000 <![CDATA[Iuso, A. et al. Mutations in PPCS, encoding phosphopantothenoylcysteine synthetase, cause autosomal-recessive dilated cardiomyopathy. Am. J. Hum. Genet. 102, 1018-1030 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53521&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53521&la=de Tue, 26 Jun 2018 00:00:00 +0000 <![CDATA[Ligthart, S.* et al. Genome analyses of >200,000 individuals identify 58 loci for chronic inflammation and highlight pathways that link inflammation and complex disorders. Am. J. Hum. Genet. 103, 691-706 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54635&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54635&la=de Sun, 04 Nov 2018 00:00:00 +0000 <![CDATA[Piekutowska-Abramczuk, D.* et al. NDUFB8 mutations cause mitochondrial complex I deficiency in individuals with leigh-like encephalomyopathy. Am. J. Hum. Genet. 102, 460-467 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52941&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52941&la=de Tue, 22 May 2018 00:00:00 +0000 <![CDATA[Reijnders, M.R.F.* et al. De novo and inherited loss-of-function variants in TLK2: Clinical and genotype-phenotype evaluation of a distinct neurodevelopmental disorder. Am. J. Hum. Genet. 102, 1195-1203 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53604&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53604&la=de Thu, 28 Jun 2018 00:00:00 +0000 <![CDATA[Sung, Y.J.* et al. A large-scale multi-ancestry genome-wide study accounting for smoking behavior identifies multiple significant loci for blood pressure. Am. J. Hum. Genet. 102, 375-400 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53002&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53002&la=de Wed, 14 Mar 2018 00:00:00 +0000 <![CDATA[Vasileiou, G.* et al. Mutations in the BAF-complex subunit DPF2 are associated with coffin-siris syndrome. Am. J. Hum. Genet. 102, 468-479 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52940&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52940&la=de Tue, 22 May 2018 00:00:00 +0000 <![CDATA[Wesdorp, M.* et al. MPZL2, encoding the epithelial junctional protein myelin protein zero-like 2, is essential for hearing in man and mouse. Am. J. Hum. Genet. 103, 74-88 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53722&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53722&la=de Mon, 02 Jul 2018 00:00:00 +0000 <![CDATA[Xu, Z.* et al. Bi-allelic mutations in Phe-tRNA synthetase associated with a multi-system pulmonary disease support non-translational function. Am. J. Hum. Genet. 103, 100-114 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53867&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53867&la=de Thu, 12 Jul 2018 00:00:00 +0000 <![CDATA[Ait-El-Mkadem, S.* et al. Mutations in MDH2, encoding a Krebs cycle enzyme, cause early-onset severe encephalopathy. Am. J. Hum. Genet. 100, 151-159 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50298&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50298&la=de Sat, 31 Dec 2016 00:00:00 +0000 <![CDATA[Anikster, Y.* et al. Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability. Am. J. Hum. Genet. 100, 257-266 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50447&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50447&la=de Mon, 13 Mar 2017 00:00:00 +0000 <![CDATA[Carrat, G.R.* et al. Decreased STARD10 expression is associated with defective insulin secretion in humans and mice. Am. J. Hum. Genet. 100, 238-256 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50663&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50663&la=de Wed, 15 Mar 2017 00:00:00 +0000 <![CDATA[Feichtinger, R.G.* et al. Biallelic C1QBP mutations cause severe neonatal-, childhood-, or later-onset cardiomyopathy associated with combined respiratory-chain deficiencies. Am. J. Hum. Genet. 101, 525-538 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51989&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51989&la=de Wed, 04 Oct 2017 00:00:00 +0000 <![CDATA[Habarou, F.* et al. Biallelic mutations in LIPT2 cause a mitochondrial lipoylation defect associated with severe neonatal encephalopathy. Am. J. Hum. Genet. 101, 283-290 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51648&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51648&la=de Tue, 12 Sep 2017 00:00:00 +0000 <![CDATA[Kim, H.I.* et al. Fine mapping and functional analysis reveal a role of SLC22A1 in acylcarnitine transport. Am. J. Hum. Genet. 101, 489-502 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51990&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51990&la=de Fri, 29 Sep 2017 00:00:00 +0000 <![CDATA[Lessel, D.* et al. De novo missense mutations in DHX30 impair global translation and cause a neurodevelopmental disorder. Am. J. Hum. Genet. 101, 716-724 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52265&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52265&la=de Thu, 16 Nov 2017 00:00:00 +0000 <![CDATA[Martin, S.* et al. De novo variants in GRIA4 lead to intellectual disability with or without seizures and gait abnormalities. Am. J. Hum. Genet. 101, 1013-1020 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52507&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52507&la=de Wed, 13 Dec 2017 00:00:00 +0000 <![CDATA[Oud, M.M.* et al. Mutations in EXTL3 cause neuro-immuno-skeletal dysplasia syndrome. Am. J. Hum. Genet. 100, 281-296 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50445&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50445&la=de Mon, 13 Mar 2017 00:00:00 +0000 <![CDATA[Van Damme, T.* et al. Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa. Am. J. Hum. Genet. 100, 216-227 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50296&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50296&la=de Wed, 01 Mar 2017 00:00:00 +0000 <![CDATA[Wiessner, M.* et al. Mutations in INPP5K, encoding a phosphoinositide 5-phosphatase, cause congenital muscular dystrophy with cataracts and mild cognitive impairment. Am. J. Hum. Genet. 100, 523-536 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50551&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50551&la=de Fri, 28 Apr 2017 00:00:00 +0000 <![CDATA[Alston, C.L.* et al. Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype. Am. J. Hum. Genet. 99, 217-227 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=49001&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=49001&la=de Sat, 09 Jul 2016 00:00:00 +0000 <![CDATA[Auer-Grumbach, M.* et al. Rare variants in MME, encoding metalloprotease neprilysin, are linked to late-onset autosomal-dominant axonal polyneuropathies. Am. J. Hum. Genet. 99, 607-623 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=49361&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=49361&la=de Mon, 05 Sep 2016 00:00:00 +0000 <![CDATA[Colin, E.* et al. Biallelic variants in UBA5 reveal that disruption of the UFM1 cascade can result in early-onset encephalopathy. Am. J. Hum. Genet. 99, 695-703 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=49303&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=49303&la=de Sun, 28 Aug 2016 00:00:00 +0000 <![CDATA[Haack, T.B. et al. Absence of the autophagy adaptor SQSTM1/p62 causes childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy. Am. J. Hum. Genet. 99, 735-743 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=49305&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=49305&la=de Sun, 28 Aug 2016 00:00:00 +0000 <![CDATA[Kennedy, H.* et al. Sudden cardiac death due to deficiency of the mitochondrial inorganic pyrophosphatase PPA2. Am. J. Hum. Genet. 99, 674-682 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=49263&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=49263&la=de Fri, 02 Sep 2016 00:00:00 +0000 <![CDATA[Kim, J.H.* et al. De novo mutations in SON disrupt RNA splicing of genes essential for brain development and metabolism, causing an intellectual-disability syndrome. Am. J. Hum. Genet. 99, 711-719 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=49304&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=49304&la=de Sun, 28 Aug 2016 00:00:00 +0000 <![CDATA[Kopajtich, R. et al. Biallelic IARS mutations cause growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and infantile hepatopathy. Am. J. Hum. Genet. 99, 414-422 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=49112&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=49112&la=de Mon, 25 Jul 2016 00:00:00 +0000 <![CDATA[Kremer, L.S. et al. Biallelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy. Am. J. Hum. Genet. 98, 358-362 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=47760&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=47760&la=de Wed, 27 Jan 2016 00:00:00 +0000 <![CDATA[Kremer, L.S. et al. NAXE mutations disrupt the cellular NAD(P)HX repair system and cause a lethal neurometabolic disorder of early childhood. Am. J. Hum. Genet. 99, 894-902 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=49468&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=49468&la=de Wed, 28 Sep 2016 00:00:00 +0000 <![CDATA[Lesage, S.* et al. Loss of VPS13C function in autosomal-recessive parkinsonism causes mitochondrial dysfunction and increases PINK1/Parkin-dependent mitophagy. Am. J. Hum. Genet. 98, 500-513 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=48043&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=48043&la=de Mon, 07 Mar 2016 00:00:00 +0000 <![CDATA[Olsen, R.K.* et al. Riboflavin-responsive and -non-responsive mutations in FAD synthase cause multiple acyl-CoA dehydrogenase and combined respiratory-chain deficiency. Am. J. Hum. Genet. 98, 1130-1145 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=48735&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=48735&la=de Mon, 06 Jun 2016 00:00:00 +0000 <![CDATA[Wade, E.M.* et al. Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia. Am. J. Hum. Genet. 99, 392-406 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=49113&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=49113&la=de Mon, 25 Jul 2016 00:00:00 +0000 <![CDATA[Zech, M. et al. Haploinsufficiency of KMT2B, encoding the lysine-specific histone methyltransferase 2B, results in early-onset generalized dystonia. Am. J. Hum. Genet. 99, 1377-1387 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50165&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50165&la=de Sat, 31 Dec 2016 00:00:00 +0000 <![CDATA[Baurecht, H.* et al. Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms. Am. J. Hum. Genet. 96, 104-120 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=43089&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=43089&la=de Wed, 14 Jan 2015 00:00:00 +0000 <![CDATA[Brea-Calvo, G.* et al. COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. Am. J. Hum. Genet. 96, 309-317 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=43236&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=43236&la=de Sun, 08 Feb 2015 00:00:00 +0000 <![CDATA[Chan, Y.* et al. Genome-wide analysis of body proportion classifies height-associated variants by mechanism of action and implicates genes important for skeletal development. Am. J. Hum. Genet. 96, 695-708 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=45022&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=45022&la=de Fri, 29 May 2015 00:00:00 +0000 <![CDATA[Haack, T.B. et al. Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy. Am. J. Hum. Genet. 97, 163-169 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=45245&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=45245&la=de Wed, 17 Jun 2015 00:00:00 +0000 <![CDATA[Hadchouel, A.* et al. Biallelic mutations of methionyl-tRNA synthetase cause a specific type of pulmonary alveolar proteinosis prevalent on Réunion Island. Am. J. Hum. Genet. 96, 826-831 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=44546&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=44546&la=de Thu, 30 Apr 2015 00:00:00 +0000 <![CDATA[Hempel, M.* et al. De novo mutations in CHAMP1 cause intellectual disability with severe speech impairment. Am. J. Hum. Genet. 97, 493-500 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=46729&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=46729&la=de Sun, 06 Sep 2015 00:00:00 +0000 <![CDATA[Powell, C.A.* et al. TRMT5 mutations cause a defect in post-transcriptional modification of mitochondrial tRNA associated with multiple respiratory-chain deficiencies. Am. J. Hum. Genet. 97, 319-328 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=46380&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=46380&la=de Wed, 22 Jul 2015 00:00:00 +0000 <![CDATA[Stuart, P.E.* et al. Genome-wide association analysis of psoriatic arthritis and cutaneous psoriasis reveals differences in their genetic architecture. Am. J. Hum. Genet. 97, 816-836 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=47470&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=47470&la=de Thu, 03 Dec 2015 00:00:00 +0000 <![CDATA[Wortmann, S.B.* et al. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am. J. Hum. Genet. 96, 245-257 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=43130&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=43130&la=de Wed, 21 Jan 2015 00:00:00 +0000 <![CDATA[Zech, M. et al. Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. Am. J. Hum. Genet. 96, 883-893 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=44908&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=44908&la=de Sun, 24 May 2015 00:00:00 +0000 <![CDATA[Chan, Y.* et al. An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases. Am. J. Hum. Genet. 94, 437-452 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=31055&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=31055&la=de Mon, 14 Apr 2014 00:00:00 +0000 <![CDATA[Dusi, S.* et al. Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. Am. J. Hum. Genet. 94, 11-22 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=29079&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=29079&la=de Mon, 27 Jan 2014 00:00:00 +0000 <![CDATA[Ganesh, S.K.* et al. Effects of long-term averaging of quantitative blood pressure traits on the detection of genetic associations. Am. J. Hum. Genet. 95, 49-65 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=31804&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=31804&la=de Thu, 24 Jul 2014 00:00:00 +0000 <![CDATA[Kapoor, A.* et al. An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval. Am. J. Hum. Genet. 94, 854-869 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=31434&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=31434&la=de Tue, 27 May 2014 00:00:00 +0000 <![CDATA[Kopajtich, R. et al. Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. Am. J. Hum. Genet. 59, 708-720 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=42875&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=42875&la=de Tue, 02 Dec 2014 00:00:00 +0000 <![CDATA[Lange, L.A.* et al. Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. Am. J. Hum. Genet. 94, 233-245 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=29321&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=29321&la=de Tue, 11 Feb 2014 00:00:00 +0000 <![CDATA[Melchionda, L.* et al. Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. Am. J. Hum. Genet. 95, 315-325 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=32065&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=32065&la=de Wed, 03 Sep 2014 00:00:00 +0000 <![CDATA[Schulte, E.C. et al. Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome. Am. J. Hum. Genet. 95, 85-95 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=31727&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=31727&la=de Mon, 07 Jul 2014 00:00:00 +0000 <![CDATA[Simino, J.* et al. Gene-age interactions in blood pressure regulation: A large-scale investigation with the CHARGE, Global BPgen, and ICBP consortia. Am. J. Hum. Genet. 95, 24-38 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=31660&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=31660&la=de Wed, 25 Jun 2014 00:00:00 +0000 <![CDATA[Synofzik, M.* et al. Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration. Am. J. Hum. Genet. 95, 689-697 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=42899&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=42899&la=de Fri, 05 Dec 2014 00:00:00 +0000 <![CDATA[Tragante, V.* et al. Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci. Am. J. Hum. Genet. 94, 349-360 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=30637&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=30637&la=de Mon, 24 Feb 2014 00:00:00 +0000 <![CDATA[Wang, S.R.* et al. Simulation of finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland. Am. J. Hum. Genet. 94, 710-720 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=31505&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=31505&la=de Fri, 30 May 2014 00:00:00 +0000 <![CDATA[Wieczorek, D.* et al. Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. Am. J. Hum. Genet. 95, 698-707 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=42876&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=42876&la=de Tue, 02 Dec 2014 00:00:00 +0000 <![CDATA[Cheng, C.Y.* et al. Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. Am. J. Hum. Genet. 93, 264-277 (2013)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=27191&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=27191&la=de Fri, 06 Sep 2013 00:00:00 +0000 <![CDATA[French, J.D.* et al. Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. Am. J. Hum. Genet. 92, 489-503 (2013)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=24450&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=24450&la=de Thu, 16 May 2013 00:00:00 +0000 <![CDATA[Gai, X.* et al. Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am. J. Hum. Genet. 93, 482-495 (2013)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=27457&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=27457&la=de Tue, 24 Sep 2013 00:00:00 +0000 <![CDATA[Haack, T.B. et al. ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. Am. J. Hum. Genet. 93, 211-223 (2013)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=26150&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=26150&la=de Wed, 31 Jul 2013 00:00:00 +0000 <![CDATA[Hildick-Smith, G.J.* et al. Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. Am. J. Hum. Genet. 93, 906-914 (2013)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=27921&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=27921&la=de Thu, 24 Oct 2013 00:00:00 +0000 <![CDATA[Hu, Y.J.* et al. Meta-analysis of gene-level associations for rare variants based on single-variant statistics. Am. J. Hum. Genet. 93, 236-248 (2013)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=28180&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=28180&la=de Wed, 13 Nov 2013 00:00:00 +0000 <![CDATA[Oates, E.C.* et al. Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am. J. Hum. Genet. 92, 965-973 (2013)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=25732&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=25732&la=de Fri, 12 Jul 2013 00:00:00 +0000 <![CDATA[Roosing, S.* et al. Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am. J. Hum. Genet. 93, 110-117 (2013)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=26054&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=26054&la=de Tue, 30 Jul 2013 00:00:00 +0000 <![CDATA[Ameur, A.* et al. Genetic adaptation of fatty-acid metabolism: A human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids. Am. J. Hum. Genet. 90, 809-820 (2012)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=7973&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=7973&la=de Mon, 23 Jul 2012 00:00:00 +0000 <![CDATA[Asselbergs, F.W.* et al. Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. Am. J. Hum. Genet. 91, 823-838 (2012)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=11444&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=11444&la=de Thu, 13 Dec 2012 00:00:00 +0000 <![CDATA[Beetz, C.* et al. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am. J. Hum. Genet. 91, 139-145 (2012)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=8299&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=8299&la=de Thu, 09 Aug 2012 00:00:00 +0000 <![CDATA[Danhauser, K. et al. DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. Am. J. Hum. Genet. 91, 1082-1087 (2012)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=11761&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=11761&la=de Mon, 31 Dec 2012 00:00:00 +0000 <![CDATA[Ellinghaus, D.* et al. Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci. Am. J. Hum. Genet. 90, 636-647 (2012)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=7542&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=7542&la=de Tue, 19 Jun 2012 00:00:00 +0000 <![CDATA[Franceschini, N.* et al. Discovery and fine mapping of serum protein loci through transethnic meta-analysis. Am. J. Hum. Genet. 91, 744-753 (2012)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=10819&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=10819&la=de Thu, 08 Nov 2012 00:00:00 +0000 <![CDATA[Ghezzi, D.* et al. Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. Am. J. Hum. Genet. 90, 1079-1087 (2012)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=7601&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=7601&la=de Thu, 05 Jul 2012 00:00:00 +0000 <![CDATA[Giehl, K.A.* et al. Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. Am. J. Hum. Genet. 91, 754-759 (2012)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=10820&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=10820&la=de Thu, 08 Nov 2012 00:00:00 +0000 <![CDATA[Haack, T.B. et al. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, x-linked dominant form of NBIA. Am. J. Hum. Genet. 91, 1144-1149 (2012)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=11762&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=11762&la=de Mon, 31 Dec 2012 00:00:00 +0000 <![CDATA[Jeanne, M.* et al. COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. Am. J. Hum. Genet. 90, 91-101 (2012)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=7105&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=7105&la=de Wed, 08 Feb 2012 00:00:00 +0000 <![CDATA[Mayr, J.A.* et al. Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am. J. Hum. Genet. 90, 314-320 (2012)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=7324&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=7324&la=de Mon, 23 Apr 2012 00:00:00 +0000 <![CDATA[Saxena, R.* et al. Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. Am. J. Hum. Genet. 90, 410-425 (2012)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=7320&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=7320&la=de Mon, 23 Apr 2012 00:00:00 +0000 <![CDATA[Schraders, M.* et al. Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment. Am. J. Hum. Genet. 91, 883-889 (2012)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=11443&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=11443&la=de Thu, 13 Dec 2012 00:00:00 +0000 <![CDATA[* et al. A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am. J. Hum. Genet. 89, 168-175 (2011)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=6496&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=6496&la=de Tue, 13 Sep 2011 00:00:00 +0000 <![CDATA[Abou Jamra, R.* et al. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am. J. Hum. Genet. 88, 788-795 (2011)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=6501&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=6501&la=de Thu, 15 Sep 2011 00:00:00 +0000 <![CDATA[Bown, M.J.* et al. Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1. Am. J. Hum. Genet. 89, 619-627 (2011)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=6883&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=6883&la=de Sat, 31 Dec 2011 00:00:00 +0000 <![CDATA[Cichon, S.* et al. Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder. Am. J. Hum. Genet. 88, 372-381 (2011)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4663&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4663&la=de Mon, 04 Jul 2011 00:00:00 +0000 <![CDATA[Guelly, C.* et al. Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. Am. J. Hum. Genet. 88, 99-105 (2011)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=6129&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=6129&la=de Mon, 16 May 2011 00:00:00 +0000 <![CDATA[Hartig, M.B. et al. Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Am. J. Hum. Genet. 89, 543-550 (2011)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=6752&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=6752&la=de Fri, 02 Dec 2011 00:00:00 +0000 <![CDATA[Johnson, T.* et al. Blood pressure loci identified with a gene-centric array. Am. J. Hum. Genet. 89, 688-700 (2011)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=11568&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=11568&la=de Mon, 31 Dec 2012 00:00:00 +0000 <![CDATA[Lanktree, M.B.* et al. Meta-analysis of dense genecentric association studies reveals common and uncommon variants associated with height. Am. J. Hum. Genet. 88, 6-18 (2011)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=6027&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=6027&la=de Wed, 06 Jul 2011 00:00:00 +0000 <![CDATA[Mayr, J.A.* et al. Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway. Am. J. Hum. Genet. 89, 806-812 (2011)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=6880&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=6880&la=de Sat, 31 Dec 2011 00:00:00 +0000 <![CDATA[Senderek, J.* et al. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am. J. Hum. Genet. 88, 162-172 (2011)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=6317&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=6317&la=de Mon, 30 May 2011 00:00:00 +0000 <![CDATA[Teumer, A.* et al. Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk. Am. J. Hum. Genet. 88, 664-673 (2011)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=5447&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=5447&la=de Thu, 08 Sep 2011 00:00:00 +0000 <![CDATA[Bandah-Rozenfeld, D.* et al. Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. Am. J. Hum. Genet. 87, 199-208 (2010)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=529&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=529&la=de Mon, 18 Oct 2010 00:00:00 +0000 <![CDATA[Lorenz-Depiereux, B. ; Schnabel, D.* ; Tiosano, D.* ; Häusler, G.* & Strom, T.M. Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am. J. Hum. Genet. 86, 267-272 (2010)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=526&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=526&la=de Mon, 18 Oct 2010 00:00:00 +0000 <![CDATA[Nikopoulos, K.* et al. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am. J. Hum. Genet. 86, 240-247 (2010)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=5927&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=5927&la=de Fri, 15 Oct 2010 00:00:00 +0000 <![CDATA[Schraders, M.* et al. Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. Am. J. Hum. Genet. 86, 604-610 (2010)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=5928&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=5928&la=de Fri, 15 Oct 2010 00:00:00 +0000 <![CDATA[Landi, M.T.* et al. A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. Am. J. Hum. Genet. 85, 679-691 (2009)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2902&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2902&la=de Fri, 11 Dec 2009 00:00:00 +0000 <![CDATA[Meisinger, C. et al. A genome-wide association study identifies three loci associated with mean platelet volume. Am. J. Hum. Genet. 84, 66-71 (2009)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2255&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2255&la=de Thu, 09 Jul 2009 00:00:00 +0000 <![CDATA[Parry, D.A.* et al. Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. Am. J. Hum. Genet. 84, 683-691 (2009)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=1024&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=1024&la=de Thu, 09 Jul 2009 00:00:00 +0000 <![CDATA[Thiadens, A.A.H.J.* et al. Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am. J. Hum. Genet. 85, 240-247 (2009)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2150&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2150&la=de Fri, 09 Oct 2009 00:00:00 +0000 <![CDATA[Collin, R.W.* et al. Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. Am. J. Hum. Genet. 83, 594-603 (2008)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4284&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4284&la=de Wed, 31 Dec 2008 00:00:00 +0000 <![CDATA[Lasky-Su, J.* et al. On the replication of genetic associations: Timing can be everything! Am. J. Hum. Genet. 82, 849-858 (2008)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2655&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2655&la=de Tue, 10 Jun 2008 00:00:00 +0000 <![CDATA[Luca, D.* et al. On the use of general control samples for genome-wide association studies: Genetic matching highlights causal variants. Am. J. Hum. Genet. 82, 453-463 (2008)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4036&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4036&la=de Fri, 04 Apr 2008 00:00:00 +0000 <![CDATA[Ramser, J.* et al. Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. Am. J. Hum. Genet. 82, 188-193 (2008)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=626&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=626&la=de Tue, 21 Oct 2008 00:00:00 +0000 <![CDATA[Wagenstaller, J. et al. Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. Am. J. Hum. Genet. 81, 768-779 (2007)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=571&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=571&la=de Thu, 22 Nov 2007 00:00:00 +0000 <![CDATA[Billingsley, G.* et al. CRYBA4, a novel human cataract gene, is also involved in microphthalmia. Am. J. Hum. Genet. 79, 702-709 (2006)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=3677&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=3677&la=de Thu, 21 Sep 2006 00:00:00 +0000 <![CDATA[den Hollander, A.I.* et al. Mutations in the CEP290 (NPHP6) gene are a frequent cause of leber congenital amaurosis. Am. J. Hum. Genet. 79, 556-561 (2006)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=5350&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=5350&la=de Wed, 20 Sep 2006 00:00:00 +0000 <![CDATA[Lorenz-Depiereux, B. et al. Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am. J. Hum. Genet. 78, 193-201 (2006)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=3772&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=3772&la=de Tue, 01 Aug 2006 00:00:00 +0000 <![CDATA[Mueller, J.C. et al. Linkage disequilibrium patterns and tagSNP transferability among European populations. Am. J. Hum. Genet. 76, 387-398 (2005)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4477&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4477&la=de Sat, 31 Dec 2005 00:00:00 +0000 <![CDATA[Geller, F.* et al. Melanocortin-4 receptor gene variant I103 is negatively associated with obesity. Am. J. Hum. Genet. 74, 572-581 (2004)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=3001&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=3001&la=de Thu, 08 Jul 2004 00:00:00 +0000 <![CDATA[Weedon, M.N.* et al. Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility. Am. J. Hum. Genet. 73, 1208-1212 (2003)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=22435&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=22435&la=de Wed, 31 Dec 2003 00:00:00 +0000 <![CDATA[Weiland, Y. ; Kraus, J. & Speicher, M.R. A multicolor fish assay does not detect DUP25 in control individuals or in reported positive control cells. Am. J. Hum. Genet. 72, 1349-1352 (2003)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=9739&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=9739&la=de Wed, 31 Dec 2003 00:00:00 +0000 <![CDATA[Froenicke, L.* ; Anderson, L.K.* ; Wienberg, J. & Ashley, T.* Male Mouse Recombination Maps for Each Autosome Identified by Chromosome Painting. Am. J. Hum. Genet. 71, 1353-1368 (2002)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=22001&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=22001&la=de Thu, 28 Nov 2002 00:00:00 +0000 <![CDATA[Altmüller, J. ; Palmer, L.J.* ; Fischer, G. ; Scherb, H. & Wjst, M. Genomewide Scans of Complex Human Diseases : True Linkage is Hard to Find. Am. J. Hum. Genet. 69, 936-950 (2001)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=22026&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=22026&la=de Wed, 11 Dec 2002 00:00:00 +0000 <![CDATA[Zhu, X.* et al. Localization of a Small Genomic Region Associated with Elevated ACE. Am. J. Hum. Genet. 67, 1144-1153 (2000)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=21591&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=21591&la=de Sun, 31 Dec 2000 00:00:00 +0000