Human Molecular Genetics

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  • 2024 | Journal Article
    ​ ​The molecular machinery for maturation of primary mtDNA transcripts​
    Vučković, A.; Freyer, C.; Wredenberg, A. & Hillen, H. S. ​ (2024) 
    Human Molecular Genetics, 33(R1) pp. R19​-R25​.​ DOI: https://doi.org/10.1093/hmg/ddae023 
    ​Details  DOI 
  • 2024 | Journal Article
    ​ ​Coordinating mitochondrial translation with assembly of the OXPHOS complexes​
    Kremer, L. S & Rehling, P. ​ (2024) 
    Human Molecular Genetics, 33(R1) pp. R47​-R52​.​ DOI: https://doi.org/10.1093/hmg/ddae025 
    ​Details  DOI 
  • 2023 | Journal Article
    ​ ​Candidate pathway analysis of surfactant proteins identifies CTSH and SFTA2 that influences lung cancer risk​
    Luyapan, J.; Bossé, Y.; Li, Z.; Xiao, X.; Rosenberger, A. ; Hung, R. J & Lam, S. et al.​ (2023) 
    Human Molecular Genetics, art. ddad095​.​ DOI: https://doi.org/10.1093/hmg/ddad095 
    ​Details  DOI 
  • 2022 | Journal Article | Research Paper | 
    ​ ​Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures​
    Gönenc, I. I.; Wolff, A.; Schmidt, J.; Zibat, A.; Müller, C.; Cyganek, L. & Argyriou, L. et al.​ (2022) 
    Human Molecular Genetics,.​ DOI: https://doi.org/10.1093/hmg/ddab373 
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  • 2022 | Journal Article
    ​ ​A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2​
    Chepurwar, S.; Loh, S. M. von; Wigger, D. C.; Neef, J. ; Frommolt, P.; Beutner, D.   & Lang-Roth, R. et al.​ (2022) 
    Human Molecular Genetics, art. ddac267​.​ DOI: https://doi.org/10.1093/hmg/ddac267 
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  • 2022 | Journal Article
    ​ ​Genome-wide interaction analysis identified low-frequency variants with sex disparity in lung cancer risk​
    Li, Y.; Xiao, X.; Li, J.; Byun, J.; Cheng, C.; Bossé, Y. & McKay, J. et al.​ (2022) 
    Human Molecular Genetics,.​ DOI: https://doi.org/10.1093/hmg/ddac030 
    ​Details  DOI 
  • 2022 | Journal Article
    ​ ​Alpha-synuclein overexpression induces epigenomic dysregulation of glutamate signaling and locomotor pathways​
    Schaffner, S. L.; Wassouf, Z.; Lazaro, D. F.; Xylaki, M.; Gladish, N.; Lin, D. T. S. & MacIsaac, J. et al.​ (2022) 
    Human Molecular Genetics, art. ddac104​.​ DOI: https://doi.org/10.1093/hmg/ddac104 
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  • 2021 | Journal Article
    ​ ​Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders​
    Ravindran, E.; Jühlen, R.; Vieira-Vieira, C. H; Ha, T.; Salzberg, Y.; Fichtman, B. & Luise-Becker, L. et al.​ (2021) 
    Human Molecular Genetics, 30(22) pp. 2068​-2081​.​ DOI: https://doi.org/10.1093/hmg/ddab160 
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  • 2021 | Journal Article
    ​ ​Dementia with Lewy bodies—associated ß-synuclein mutations V70M and P123H cause mutation-specific neuropathological lesions​
    Psol, M.; Darvas, S. G.; Leite, K.; Mahajani, S. U; Bähr, M.   & Kügler, S.​ (2021) 
    Human Molecular Genetics, 30(3-4) pp. 247​-264​.​ DOI: https://doi.org/10.1093/hmg/ddab036 
    ​Details  DOI 
  • 2021 | Journal Article
    ​ ​CHARGE syndrome and related disorders: A mechanistic link​
    Ufartes, R.; Grün, R.; Salinas, G. ; Sitte, M.; Kahl, F.; Wong, M. T Y & van Ravenswaaij-Arts, C. M A et al.​ (2021) 
    Human Molecular Genetics,.​ DOI: https://doi.org/10.1093/hmg/ddab183 
    ​Details  DOI 
  • 2020 | Journal Article
    ​ ​Altered bone development with impaired cartilage formation precedes neuromuscular symptoms in spinal muscular atrophy​
    Hensel, N.; Brickwedde, H.; Tsaknakis, K. ; Grages, A.; Braunschweig, L. ; Lüders, K. A & Lorenz, H. M  et al.​ (2020) 
    Human Molecular Genetics, 29(16) pp. 2662​-2673​.​ DOI: https://doi.org/10.1093/hmg/ddaa145 
    ​Details  DOI 
  • 2020 | Journal Article
    ​ ​Motor neuron translatome reveals deregulation of SYNGR4 and PLEKHB1 in mutant TDP-43 amyotrophic lateral sclerosis models​
    Marques, R. F; Engler, J. B; Küchler, K.; Jones, R. A; Lingner, T.; Salinas, G.   & Gillingwater, T. H et al.​ (2020) 
    Human Molecular Genetics, 29(16) pp. 2647​-2661​.​ DOI: https://doi.org/10.1093/hmg/ddaa140 
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  • 2020 | Journal Article
    ​ ​Spatial genome architecture and the emergence of malignancy​
    Danieli, A. & Papantonis, A. ​ (2020) 
    Human Molecular Genetics, 29(R2) pp. R197​-R204​.​ DOI: https://doi.org/10.1093/hmg/ddaa128 
    ​Details  DOI 
  • 2019 | Journal Article
    ​ ​Associations with metabolites in Chinese suggest new metabolic roles in Alzheimer’s and Parkinson’s diseases​
    Chai, J.-F.; Raichur, S.; Khor, I. W.; Torta, F.; Chew, W. S.; Herr, D. R. & Ching, J.-H. et al.​ (2019) 
    Human Molecular Genetics,.​ DOI: https://doi.org/10.1093/hmg/ddz246 
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  • 2019 | Journal Article | Research Paper
    ​ ​Nuclear localization and phosphorylation modulate pathological effects of alpha-synuclein​
    Pinho, R.; Paiva, I.; Jercic, K. G.; Fonseca-Ornelas, L.; Gerhardt, E.; Fahlbusch, C. & Garcia-Esparcia, P. et al.​ (2019) 
    Human Molecular Genetics, 28(1) pp. 31​-50​.​ DOI: https://doi.org/10.1093/hmg/ddy326 
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  • 2018 | Journal Article
    ​ ​Sema3a plays a role in the pathogenesis of CHARGE syndrome​
    Ufartes, R.; Schwenty-Lara, J.; Freese, L.; Neuhofer, C.; Möller, J.; Wehner, P. & van Ravenswaaij-Arts, C. M A et al.​ (2018) 
    Human Molecular Genetics, 27(8) pp. 1343​-1352​.​ DOI: https://doi.org/10.1093/hmg/ddy045 
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  • 2018 | Journal Article | Research Paper | 
    ​ ​Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy​
    Pacheu-Grau, D.; Callegari, S.; Emperador, S.; Thompson, K.; Aich, A.; Topol, S. E. & Spencer, E. G. et al.​ (2018) 
    Human Molecular Genetics, 27(23) pp. 4135​-4144​.​ DOI: https://doi.org/10.1093/hmg/ddy305 
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  • 2017 | Journal Article
    ​ ​GARLIC: a bioinformatic toolkit for aetiologically connecting diseases and cell type-specific regulatory maps​
    Nikolic, M.; Papantonis, A.   & Rada-Iglesias, A.​ (2017) 
    Human Molecular Genetics, 26(4) pp. 742​-752​.​ DOI: https://doi.org/10.1093/hmg/ddw423 
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  • 2017 | Journal Article
    ​ ​Sodium butyrate rescues dopaminergic cells from alpha-synuclein-induced transcriptional deregulation and DNA damage​
    Paiva, I. ; Pinho, R. ; Pavlou, M. A. ; Hennion, M. ; Wales, P. ; Schütz, A.-L.   & Rajput, A.  et al.​ (2017) 
    Human Molecular Genetics, 26(12) pp. 2231​-2246​.​ DOI: https://doi.org/10.1093/hmg/ddx114 
    ​Details  DOI 
  • 2017 | Journal Article
    ​ ​Protein phosphatase 1 regulates huntingtin exon 1 aggregation and toxicity​
    Branco-Santos, J.; Herrera, F.; Poças, G. M.; Pires-Afonso, Y.; Giorgini, F.; Domingos, P. M. & Outeiro, T. F. ​ (2017) 
    Human Molecular Genetics, 26(19) pp. 3763​-3775​.​ DOI: https://doi.org/10.1093/hmg/ddx260 
    ​Details  DOI 
  • 2017 | Journal Article
    ​ ​New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy​
    Pinggera, A.; Mackenroth, L.; Rump, A.; Schallner, J.; Beleggia, F.; Wollnik, B.   & Striessnig, J.​ (2017) 
    Human Molecular Genetics, 26(15) pp. 2923​-2932​.​ DOI: https://doi.org/10.1093/hmg/ddx175 
    ​Details  DOI 
  • 2017 | Journal Article
    ​ ​The NAD+-dependent deacetylase SIRT2 attenuates oxidative stress and mitochondrial dysfunction and improves insulin sensitivity in hepatocytes​
    Lemos, V.; de Oliveira, R. M; Naia, L.; Szegö, É. ; Ramos, E.; Pinho, S. & Magro, F. et al.​ (2017) 
    Human Molecular Genetics, 26(21) pp. 4105​-4117​.​ DOI: https://doi.org/10.1093/hmg/ddx298 
    ​Details  DOI 
  • 2016 | Journal Article
    ​ ​Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder​
    Hou, L.; Bergen, S. E.; Akula, N.; Song, J.; Hultman, C. M.; Landén, M. & Adli, M. et al.​ (2016) 
    Human Molecular Genetics, 25(15) pp. 3383​-3394​.​ DOI: https://doi.org/10.1093/hmg/ddw181 
    ​Details  DOI 
  • 2016 | Journal Article
    ​ ​A familial ATP13A2 mutation enhances alpha-synuclein aggregation and promotes cell death​
    da Fonseca, T. L.; Pinho, R. & Outeiro, T. F. ​ (2016) 
    Human Molecular Genetics, 25(14) pp. 2959​-2971​.​ DOI: https://doi.org/10.1093/hmg/ddw147 
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  • 2016 | Journal Article
    ​ ​alpha B-Crystallin overexpression in astrocytes modulates the phenotype of the BACHD mouse model of Huntington's disease​
    Oliveira, A. O.; Osmand, A.; Outeiro, T. F. ; Muchowski, P. J. & Finkbeiner, S.​ (2016) 
    Human Molecular Genetics, 25(9) pp. 1677​-1689​.​ DOI: https://doi.org/10.1093/hmg/ddw028 
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  • 2016 | Journal Article
    ​ ​The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface​
    Seifert, W.; Posor, Y.; Schu, P.; Stenbeck, G.; Mundlos, S.; Klaassen, S. & Nürnberg, P. et al.​ (2016) 
    Human Molecular Genetics, 25(17) pp. 3836​-3848​.​ DOI: https://doi.org/10.1093/hmg/ddw230 
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  • 2016 | Journal Article | Research Paper
    ​ ​Effects of the Bowen-Conradi syndrome mutation in EMG1 on its nuclear import, stability and nucleolar recruitment​
    Warda, A. S.; Freytag, B.; Haag, S.; Sloan, K. E.; Goerlich, D. & Bohnsack, M. T. ​ (2016) 
    Human Molecular Genetics, 25(24) pp. 5353​-5364​.​ DOI: https://doi.org/10.1093/hmg/ddw351 
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  • 2016 | Journal Article
    ​ ​Yeast reveals similar molecular mechanisms underlying alpha- and beta-synuclein toxicity​
    Tenreiro, S.; Rosado-Ramos, R.; Gerhardt, E. ; Favretto, F. ; Magalhães, F.; Popova, B.   & Becker, S.  et al.​ (2016) 
    Human Molecular Genetics, 25(2) pp. 275​-290​.​ DOI: https://doi.org/10.1093/hmg/ddv470 
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  • 2016 | Journal Article
    ​ ​Identification of new molecular alterations in fatal familial insomnia​
    Llorens, F.; Thuene, K.; Schmitz, M.; Ansoleaga, B.; Frau-Mendez, M. A.; Cramm, M. & Tahir, W. et al.​ (2016) 
    Human Molecular Genetics, 25(12) pp. 2417​-2436​.​ DOI: https://doi.org/10.1093/hmg/ddw108 
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  • 2015 | Journal Article
    ​ ​The active Hsc70/tau complex can be exploited to enhance tau turnover without damaging microtubule dynamics​
    Fontaine, S. N.; Martin, M. D.; Akoury, E.; Assimon, V. A.; Borysov, S.; Nordhues, B. A. & Sabbagh, J. J. et al.​ (2015) 
    Human Molecular Genetics, 24(14) pp. 3971​-3981​.​ DOI: https://doi.org/10.1093/hmg/ddv135 
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  • 2015 | Journal Article | Research Paper
    ​ ​CRIM1 haploinsufficiency causes defects in eye development in human and mouse​
    Beleggia, F.; Li, Y. ; Fan, J.; Elcioglu, N. H.; Toker, E.; Wieland, T. & Maumenee, I. H. et al.​ (2015) 
    Human Molecular Genetics, 24(8) pp. 2267​-2273​.​ DOI: https://doi.org/10.1093/hmg/ddu744 
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  • 2015 | Journal Article
    ​ ​L-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome​
    Xu, B.; Sowa, N.; Cardenas, M. E. & Gerton, J. L.​ (2015) 
    Human Molecular Genetics, 24(6) pp. 1540​-1555​.​ DOI: https://doi.org/10.1093/hmg/ddu565 
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  • 2015 | Journal Article
    ​ ​Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres​
    Yuen, M.; Cooper, S. T.; Marston, S.; Nowak, K. J.; McNamara, E.; Mokbel, N. & Ilkovski, B. et al.​ (2015) 
    Human Molecular Genetics, 24(22) pp. 6278​-6292​.​ DOI: https://doi.org/10.1093/hmg/ddv334 
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  • 2015 | Journal Article
    ​ ​alpha-Synuclein modifies mutant huntingtin aggregation and neurotoxicity in Drosophila​
    Pocas, G. M.; Branco-Santos, J.; Herrera, F.; Outeiro, T. F.   & Domingos, P. M.​ (2015) 
    Human Molecular Genetics, 24(7) pp. 1898​-1907​.​ DOI: https://doi.org/10.1093/hmg/ddu606 
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  • 2015 | Journal Article | 
    ​ ​Genetic determinants of telomere length and risk of common cancers: a Mendelian randomization study​
    Zhang, C.; Doherty, J. A.; Burgess, S.; Hung, R. J.; Lindstroem, S.; Kraft, P. & Gong, J. et al.​ (2015) 
    Human Molecular Genetics, 24(18) pp. 5356​-5366​.​ DOI: https://doi.org/10.1093/hmg/ddv252 
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  • 2015 | Journal Article
    ​ ​Mutant huntingtin alters Tau phosphorylation and subcellular distribution​
    Blum, D.; Herrera, F.; Francelle, L. ; Mendes, T.; Basquin, M.; Obriot, H. & Demeyer, D. et al.​ (2015) 
    Human Molecular Genetics, 24(1) pp. 76​-85​.​ DOI: https://doi.org/10.1093/hmg/ddu421 
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  • 2015 | Journal Article | 
    ​ ​Rab11 modulates alpha-synuclein-mediated defects in synaptic transmission and behaviour​
    Breda, C.; Nugent, M. L.; Estranero, J. G.; Kyriacou, C. P.; Outeiro, T. F. ; Steinert, J. R. & Giorgini, F.​ (2015) 
    Human Molecular Genetics, 24(4) pp. 1077​-1091​.​ DOI: https://doi.org/10.1093/hmg/ddu521 
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  • 2015 | Journal Article | Research Paper
    ​ ​Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability​
    Rosin, N. ; Elcioglu, N. H.; Beleggia, F.; Isguven, P.; Altmüller, J.; Thiele, H. & Steindl, K. et al.​ (2015) 
    Human Molecular Genetics, 24(13) pp. 3708​-3717​.​ DOI: https://doi.org/10.1093/hmg/ddv115 
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  • 2015 | Journal Article
    ​ ​Identification of shared and unique susceptibility pathways among cancers of the lung, breast, and prostate from genome-wide association studies and tissue-specific protein interactions​
    Qian, D. C.; Byun, J.; Han, Y.; Greene, C. S.; Field, J. K.; Hung, R. J. & Brhane, Y. et al.​ (2015) 
    Human Molecular Genetics, 24(25) pp. 7406​-7420​.​ DOI: https://doi.org/10.1093/hmg/ddv440 
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  • 2015 | Journal Article
    ​ ​(Poly)phenols protect from alpha-synuclein toxicity by reducing oxidative stress and promoting autophagy​
    Macedo, D.; Tavares, L.; McDougall, G. J.; Vicente Miranda, H.; Stewart, D.; Ferreira, R. B. & Tenreiro, S. et al.​ (2015) 
    Human Molecular Genetics, 24(6) pp. 1717​-1732​.​ DOI: https://doi.org/10.1093/hmg/ddu585 
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  • 2014 | Journal Article
    ​ ​SUCLG2 identified as both a determinator of CSF Aβ1–42 levels and an attenuator of cognitive decline in Alzheimer's disease​
    Ramirez, A.; van der Flier, W. M.; Herold, C.; Ramonet, D.; Heilmann, S.; Lewczuk, P.   & Popp, J. et al.​ (2014) 
    Human Molecular Genetics, 23(24) pp. 6644​-6658​.​ DOI: https://doi.org/10.1093/hmg/ddu372 
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  • 2014 | Journal Article
    ​ ​DJ-1 modulates aggregation and pathogenesis in models of Huntington's disease​
    Sajjad, M. U.; Green, E. W.; Miller-Fleming, L.; Hands, S.; Herrera, F.; Campesan, S. & Khoshnan, A. et al.​ (2014) 
    Human Molecular Genetics, 23(3) pp. 755​-766​.​ DOI: https://doi.org/10.1093/hmg/ddt466 
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  • 2014 | Journal Article
    ​ ​Inactivation of the Carney complex gene 1 (PRKAR1A) alters spatiotemporal regulation of cAMP and cAMP-dependent protein kinase: a study using genetically encoded FRET-based reporters​
    Cazabat, L.; Ragazzon, B.; Varin, A.; Potier-Cartereau, M.; Vandier, C.; Vezzosi, D. & Risk-Rabin, M. et al.​ (2014) 
    Human Molecular Genetics, 23(5) pp. 1163​-1174​.​ DOI: https://doi.org/10.1093/hmg/ddt510 
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  • 2014 | Journal Article
    ​ ​Copy-number variation of the neuronal glucose transporter gene SLC2A3 and age of onset in Huntington's disease​
    Vittori, A.; Breda, C.; Repici, M.; Orth, M.; Roos, R. A. C.; Outeiro, T. F.   & Giorgini, F. et al.​ (2014) 
    Human Molecular Genetics, 23(12) pp. 3129​-3137​.​ DOI: https://doi.org/10.1093/hmg/ddu022 
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  • 2014 | Journal Article
    ​ ​Mutation of SALL2 causes recessive ocular coloboma in humans and mice​
    Kelberman, D.; Islam, L.; Lakowski, J.; Bacchelli, C.; Chanudet, E.; Lescai, F. & Patel, A. et al.​ (2014) 
    Human Molecular Genetics, 23(10) pp. 2511​-2526​.​ DOI: https://doi.org/10.1093/hmg/ddt643 
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  • 2014 | Journal Article | Research Paper
    ​ ​CHARGE and Kabuki syndromes: a phenotypic and molecular link​
    Schulz, Y.; Freese, L.; Maenz, J.; Zoll, B. ; Voelter, C.; Brockmann, K.   & Boegershausen, N. et al.​ (2014) 
    Human Molecular Genetics, 23(16) pp. 4396​-4405​.​ DOI: https://doi.org/10.1093/hmg/ddu156 
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  • 2014 | Journal Article
    ​ ​The small GTPase Rab11 co-localizes with alpha-synuclein in intracellular inclusions and modulates its aggregation, secretion and toxicity​
    Chutna, O.; Goncalves, S. A.; Villar-Pique, A. ; Guerreiro, P. S.; Marijanovic, Z.; Mendes, T. & Ramalho, J. S. et al.​ (2014) 
    Human Molecular Genetics, 23(25) pp. 6732​-6745​.​ DOI: https://doi.org/10.1093/hmg/ddu391 
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  • 2013 | Journal Article
    ​ ​MeCP2: a novel Huntingtin interactor​
    McFarland, K. N.; Huizenga, M. N.; Darnell, S. B.; Sangrey, G. R.; Berezovska, O.; Cha, J. Cha, J.-H. J. & Outeiro, T. F.  et al.​ (2013) 
    Human Molecular Genetics, 23(4) pp. 1036​-1044​.​ DOI: https://doi.org/10.1093/hmg/ddt499 
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  • 2013 | Journal Article | Research Paper
    ​ ​CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly​
    Hussain, M. S.; Baig, S. M.; Neumann, S.; Peche, V. S.; Szczepanski, S.; Nürnberg, G. & Tariq, M. et al.​ (2013) 
    Human Molecular Genetics, 22(25) pp. 5199​-5214​.​ DOI: https://doi.org/10.1093/hmg/ddt374 
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  • 2013 | Journal Article | Research Paper
    ​ ​A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling​
    Wieczorek, D.; Boegershausen, N.; Beleggia, F.; Steiner-Haldenstaett, S.; Pohl, E.; Li, Y.   & Milz, E. et al.​ (2013) 
    Human Molecular Genetics, 22(25) pp. 5121​-5135​.​ DOI: https://doi.org/10.1093/hmg/ddt366 
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  • 2013 | Journal Article
    ​ ​Behavioural and functional characterization of K(v)10.1 (Eag1) knockout mice​
    Ufartes, R.; Schneider, T.; Mortensen, L. S.; de Juan Romero, C.; Hentrich, K.; Knoetgen, H. & Beilinson, V. et al.​ (2013) 
    Human Molecular Genetics, 22(11) pp. 2247​-2262​.​ DOI: https://doi.org/10.1093/hmg/ddt076 
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  • 2013 | Journal Article | Research Paper
    ​ ​Functional analysis of PEX13 mutation in a Zellweger syndrome spectrum patient reveals novel homooligomerization of PEX13 and its role in human peroxisome biogenesis​
    Krause, C. ; Rosewich, H. ; Woehler, A. & Gärtner, J. ​ (2013) 
    Human Molecular Genetics, 22(19) pp. 3844​-3857​.​ DOI: https://doi.org/10.1093/hmg/ddt238 
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  • 2013 | Journal Article
    ​ ​Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors​
    Gispert, S.; Parganlija, D.; Klinkenberg, M.; Droese, S.; Wittig, I.; Mittelbronn, M. & Grzmil, P. et al.​ (2013) 
    Human Molecular Genetics, 22(24) pp. 4871​-4887​.​ DOI: https://doi.org/10.1093/hmg/ddt338 
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  • 2012 | Journal Article
    ​ ​Suppression of α-synuclein toxicity and vesicle trafficking defects by phosphorylation at S129 in yeast depends on genetic context​
    Sancenon, V.; Lee, S.-A.; Patrick, C.; Griffith, J.; Paulino, A.; Outeiro, T. F.   & Reggiori, F. et al.​ (2012) 
    Human Molecular Genetics, 21(11) pp. 2432​-2449​.​ DOI: https://doi.org/10.1093/hmg/dds058 
    ​Details  DOI 
  • 2012 | Journal Article
    ​ ​Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP​
    Mead, S.; Uphill, J.; Beck, J.; Poulter, M.; Campbell, T.; Lowe, J. & Adamson, G. et al.​ (2012) 
    Human Molecular Genetics, 21(8) pp. 1897​-1906​.​ DOI: https://doi.org/10.1093/hmg/ddr607 
    ​Details  DOI  PMID  PMC  WoS 
  • 2012 | Journal Article | 
    ​ ​Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls​
    Timofeeva, M. N.; Hung, R. J.; Rafnar, T.; Christiani, D. C.; Field, J. K.; Bickeboeller, H.   & Risch, A. et al.​ (2012) 
    Human Molecular Genetics, 21(22) pp. 4980​-4995​.​ DOI: https://doi.org/10.1093/hmg/dds334 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article
    ​ ​Common variants at VRK2 and TCF4 conferring risk of schizophrenia​
    Steinberg, S.; de Jong, S.; Andreassen, O. A.; Werge, T.; Børglum, A. D.; Mors, O. & Mortensen, P. B. et al.​ (2011) 
    Human Molecular Genetics, 20(20) pp. 4076​-4081​.​ DOI: https://doi.org/10.1093/hmg/ddr325 
    ​Details  DOI  PMID  PMC 
  • 2011 | Journal Article | Research Paper
    ​ ​Mimicking a SURF1 allele reveals uncoupling of cytochrome c oxidase assembly from translational regulation in yeast​
    Reinhold, R. ; Bareth, B. ; Balleininger, M.; Wissel, M. ; Rehling, P.   & Mick, D. U. ​ (2011) 
    Human Molecular Genetics, 20(12) pp. 2379​-2393​.​ DOI: https://doi.org/10.1093/hmg/ddr145 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper
    ​ ​The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome​
    Schuetz, M.; Auth, T.; Gehrt, A. ; Bosen, F.; Koerber, I.; Strenzke, N.   & Moser, T.  et al.​ (2011) 
    Human Molecular Genetics, 20(1) pp. 28​-39​.​ DOI: https://doi.org/10.1093/hmg/ddq429 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article
    ​ ​The spinal muscular atrophy disease protein SMN is linked to the rho-kinase pathway via profilin​
    Noelle, A.; Zeug, A.; van Bergeijk, J.; Toenges, L.; Gerhard, R.; Brinkmann, H. & Al Rayes, S. et al.​ (2011) 
    Human Molecular Genetics, 20(24) pp. 4865​-4878​.​ DOI: https://doi.org/10.1093/hmg/ddr425 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article
    ​ ​Functional relevance of the IRF-1 promoter polymorphism rs2549009 on transcriptional activity in a native genomic environment​
    Mertens, J.; Ramadori, G. & Mihm, S.​ (2010) 
    Human Molecular Genetics, 19(23) pp. 4587​-4594​.​ DOI: https://doi.org/10.1093/hmg/ddq386 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Conference Paper
    ​ ​Genetic control of the alternative pathway of complement in humans and age-related macular degeneration​
    Hecker, L. A.; Edwards, A. O.; Ryu, E.; Tosakulwong, N.; Baratz, K. H.; Brown, W. L. & Issa, P. C. et al.​ (2010)
    Human Molecular Genetics, 19(1) pp. 209​-215. ​Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology​, Ft Lauderdale, FL.
    Oxford​: Oxford Univ Press. DOI: https://doi.org/10.1093/hmg/ddp472 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article | 
    ​ ​CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome​
    Batsukh, T.; Pieper, L.; Koszucka, A. M.; von Velsen, N.; Hoyer-Fender, S. ; Elbracht, M. & Bergman, J. E. H. et al.​ (2010) 
    Human Molecular Genetics, 19(14) pp. 2858​-2866​.​ DOI: https://doi.org/10.1093/hmg/ddq189 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article
    ​ ​An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD)​
    Fritsche, L. G.; Lauer, N.; Hartmann, A.; Stippa, S.; Keilhauer, C. N.; Oppermann, M.   & Pandey, M. K. et al.​ (2010) 
    Human Molecular Genetics, 19(23) pp. 4694​-4704​.​ DOI: https://doi.org/10.1093/hmg/ddq399 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article
    ​ ​Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival​
    Hucthagowder, V.; Morava, E.; Kornak, U. ; Lefeber, D. J; Fischer, B.; Dimopoulou, A. & Aldinger, A. et al.​ (2009) 
    Human Molecular Genetics, 18(12) pp. 2149​-2165​.​ DOI: https://doi.org/10.1093/hmg/ddp148 
    ​Details  DOI  PMID  PMC 
  • 2009 | Journal Article
    ​ ​Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects​
    Boon, K.-L.; Xiao, S.; McWhorter, M. L.; Donn, T.; Wolf-Saxon, E.; Bohnsack, M. T.   & Moens, C. B. et al.​ (2009) 
    Human Molecular Genetics, 18(19) pp. 3615​-3625​.​ DOI: https://doi.org/10.1093/hmg/ddp310 
    ​Details  DOI 
  • 2009 | Journal Article
    ​ ​Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins​
    Muchir, A.; Shan, J.; Bonne, G.; Lehnart, S. E.   & Worman, H. J.​ (2009) 
    Human Molecular Genetics, 18(2) pp. 241​-247​.​ DOI: https://doi.org/10.1093/hmg/ddn343 
    ​Details  DOI  PMID  PMC 
  • 2009 | Journal Article
    ​ ​ALX4 dysfunction disrupts craniofacial and epidermal development​
    Kayserili, H.; Uz, E.; Niessen, C.; Vargel, I.; Alanay, Y.; Tuncbilek, G. & Yigit, G.  et al.​ (2009) 
    Human Molecular Genetics, 18(22) pp. 4357​-4366​.​ DOI: https://doi.org/10.1093/hmg/ddp391 
    ​Details  DOI  PMID  PMC  WoS 
  • 2008 | Journal Article
    ​ ​Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH)​
    Keyser, B.; Muehlhausen, C.; Dickmanns, A.; Christensen, E.; Muschol, N.; Ullrich, K. & Braulke, T.​ (2008) 
    Human Molecular Genetics, 17(24) pp. 3854​-3863​.​ DOI: https://doi.org/10.1093/hmg/ddn284 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Journal Article
    ​ ​Multiple roles for neurofibromin in skeletal development and growth​
    Kolanczyk, M.; Kossler, N.; Kühnisch, J.; Lavitas, L.; Stricker, S.; Wilkening, U. & Manjubala, I. et al.​ (2007) 
    Human Molecular Genetics, 16(8) pp. 874​-886​.​ DOI: https://doi.org/10.1093/hmg/ddm032 
    ​Details  DOI  PMID  PMC 
  • 2007 | Journal Article
    ​ ​Expression, localization and tau exon 10 splicing activity of the brain RNA-binding protein TNRC4​
    Chapple, J. P.; Anthony, K.; Martin, T. R.; Dev, A.; Cooper, T. A. & Gallo, J.-M.​ (2007) 
    Human Molecular Genetics, 16(22) pp. 2760​-2769​.​ DOI: https://doi.org/10.1093/hmg/ddm233 
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article
    ​ ​Stem-cell protein Piwil2 is widely expressed in tumors and inhibits apoptosis through activation of Stat3/Bcl-X-L pathway​
    Lee, J. H.; Schutte, D.; Wulf, G.; Fuzesi, L.; Radzun, H.-J.; Schweyer, S. & Engel, W. et al.​ (2006) 
    Human Molecular Genetics, 15(2) pp. 201​-211​.​ DOI: https://doi.org/10.1093/hmg/ddi430 
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article
    ​ ​A functional polymorphism within plasminogen activator urokinase (PLAU) is associated with Alzheimer's disease​
    Riemenschneider, M.; Konta, L.; Friedrich, P.; Schwarz, S.; Taddei, K.; Neff, F. & Padovani, A. et al.​ (2006) 
    Human Molecular Genetics, 15(16) pp. 2446​-2456​.​ DOI: https://doi.org/10.1093/hmg/ddl167 
    ​Details  DOI  PMID  PMC  WoS 
  • 2005 | Journal Article
    ​ ​Cannabinoid receptor type 2 gene is associated with human osteoporosis​
    Karsak, M.; Cohen-Solal, M.; Freudenberg, J.; Ostertag, A.; Morieux, C.; Kornak, U.   & Essig, J. et al.​ (2005) 
    Human Molecular Genetics, 14(22) pp. 3389​-3396​.​ DOI: https://doi.org/10.1093/hmg/ddi370 
    ​Details  DOI  PMID  PMC 
  • 2005 | Journal Article
    ​ ​Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease​
    Strauss, K. M.; Martins, L. M.; Plun-Favreau, H.; Marx, F. P.; Kautzmann, S.; Berg, D. & Gasser, T. et al.​ (2005) 
    Human Molecular Genetics, 14(15) pp. 2099​-2111​.​ DOI: https://doi.org/10.1093/hmg/ddi215 
    ​Details  DOI  PMID  PMC  WoS 
  • 2005 | Journal Article | Research Paper
    ​ ​Profound ataxia in complexin I knockout mice masks a complex phenotype that includes exploratory and habituation deficits​
    Glynn, D.; Drew, C. J.; Reim, K.; Brose, N.   & Morton, A. J.​ (2005) 
    Human Molecular Genetics, 14(16) pp. 2369​-2385​.​ DOI: https://doi.org/10.1093/hmg/ddi239 
    ​Details  DOI  PMID  PMC  WoS 
  • 2004 | Journal Article
    ​ ​A molecular pathogenesis for transcription factor associated poly-alanine tract expansions​
    Albrecht, A. N; Kornak, U. ; Böddrich, A.; Süring, K.; Robinson, P. N; Stiege, A. C & Lurz, R. et al.​ (2004) 
    Human Molecular Genetics, 13(20) pp. 2351​-2359​.​ DOI: https://doi.org/10.1093/hmg/ddh277 
    ​Details  DOI  PMID  PMC 
  • 2004 | Journal Article | Research Paper
    ​ ​Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes​
    Steinfeld, R. ; Steinke, H. B.; Isbrandt, D.; Kohlschuetter, A. & Gärtner, J. ​ (2004) 
    Human Molecular Genetics, 13(20) pp. 2483​-2491​.​ DOI: https://doi.org/10.1093/hmg/ddh264 
    ​Details  DOI  PMID  PMC  WoS 
  • 2004 | Journal Article
    ​ ​Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli​
    Schwarz, G.; Santamaria-Araujo, J. A.; Wolf, S.; Lee, H. J.; Adham, I. M.; Grone, H. J. & Schwegler, H. et al.​ (2004) 
    Human Molecular Genetics, 13(12) pp. 1249​-1255​.​ DOI: https://doi.org/10.1093/hmg/ddh136 
    ​Details  DOI  PMID  PMC  WoS 
  • 2004 | Journal Article
    ​ ​Stem cell based therapeutical approach of male infertility by teratocarcinoma derived germ cells​
    Nayernia, K.; Li, M. Y.; Jaroszynski, L.; Khusainov, R.; Wulf, G.; Schwandt, I. & Korabiowska, M. et al.​ (2004) 
    Human Molecular Genetics, 13(14) pp. 1451​-1460​.​ DOI: https://doi.org/10.1093/hmg/ddh166 
    ​Details  DOI  PMID  PMC  WoS 
  • 2004 | Journal Article
    ​ ​Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study​
    Roces, D. P.; Lullmann-Rauch, R.; Peng, J. H.; Balducci, C.; Andersson, C.; Tollersrud, O. & Fogh, J. et al.​ (2004) 
    Human Molecular Genetics, 13(18) pp. 1979​-1988​.​ DOI: https://doi.org/10.1093/hmg/ddh220 
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article
    ​ ​Defective integrin switch and matrix composition at alpha 7-deficient myotendinous junctions precede the onset of muscular dystrophy in mice​
    Nawrotzki, R.; Willem, M.; Miosge, N.; Brinkmeier, H. & Mayer, U.​ (2003) 
    Human Molecular Genetics, 12(5) pp. 483​-495​.​ DOI: https://doi.org/10.1093/hmg/ddg047 
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article
    ​ ​Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects​
    Kiefer, S. M.; Ohlemiller, K. K.; Yang, J.; McDill, B. W.; Kohlhase, J. & Rauchman, M.​ (2003) 
    Human Molecular Genetics, 12(17) pp. 2221​-2227​.​ DOI: https://doi.org/10.1093/hmg/ddg233 
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article | Research Paper
    ​ ​LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in mice​
    Gamp, A. C.; Tanaka, Y.; Lullmann-Rauch, R.; Wittke, D.; D’Hooge, R.; De Deyn, P. P. & Moser, T.  et al.​ (2003) 
    Human Molecular Genetics, 12(6) pp. 631​-646​.​ DOI: https://doi.org/10.1093/hmg/ddg062 
    ​Details  DOI  PMID  PMC  WoS 
  • 2002 | Journal Article
    ​ ​Molybdenum cofactor-deficient mice resemble the phenotype of human patients​
    Lee, H. J.; Adham, I. M.; Schwarz, G.; Kneussel, M.; Sass, J. O.; Engel, W. & Reiss, J.​ (2002) 
    Human Molecular Genetics, 11(26) pp. 3309​-3317​.​ DOI: https://doi.org/10.1093/hmg/11.26.3309 
    ​Details  DOI  PMID  PMC  WoS 
  • 2002 | Journal Article
    ​ ​The disintegrin/metalloprotease ADAM 10 is essential for Notch signalling but not for alpha-secretase activity in fibroblasts​
    Hartmann, D.; de Strooper, B.; Serneels, L.; Craessaerts, K.; Herreman, A.; Annaert, W. & Umans, L. et al.​ (2002) 
    Human Molecular Genetics, 11(21) pp. 2615​-2624​.​ DOI: https://doi.org/10.1093/hmg/11.21.2615 
    ​Details  DOI  PMID  PMC  WoS 
  • 2002 | Journal Article
    ​ ​Okihiro syndrome is caused by SALL4 mutations​
    Kohlhase, J.; Heinrich, M.; Schubert, L.; Liebers, M.; Kispert, A.; Laccone, F. A. & Turnpenny, P. et al.​ (2002) 
    Human Molecular Genetics, 11(23) pp. 2979​-2987​.​ DOI: https://doi.org/10.1093/hmg/11.23.2979 
    ​Details  DOI  PMID  PMC  WoS 
  • 2002 | Journal Article
    ​ ​The Hook1 gene is non-functional in the abnormal spermatozoon head shape (azh) mutant mouse​
    Mendoza-Lujambio, I.; Burfeind, P.; Dixkens, C.; Meinhardt, A.; Hoyer-Fender, S. ; Engel, W. & Neesen, J.​ (2002) 
    Human Molecular Genetics, 11(14) pp. 1647​-1658​.​ DOI: https://doi.org/10.1093/hmg/11.14.1647 
    ​Details  DOI  PMID  PMC  WoS 
  • 2001 | Journal Article
    ​ ​Disruption of an inner arm dynein heavy chain gene results in asthenozoospermia and reduced ciliary beat frequency​
    Neesen, J.; Kirschner, R.; Ochs, M.; Schmiedl, A.; Habermann, B.; Mueller, C. & Holstein, A. F. et al.​ (2001) 
    Human Molecular Genetics, 10(11) pp. 1117​-1128​.​ DOI: https://doi.org/10.1093/hmg/10.11.1117 
    ​Details  DOI  PMID  PMC  WoS 
  • 2001 | Journal Article
    ​ ​SALL1,the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin​
    Netzer, C.; Rieger, L.; Brero, A.; Zhang, C.; Hinzke, M.; Kohlhase, J. & Bohlander, S. K.​ (2001) 
    Human Molecular Genetics, 10(26) pp. 3017​-3024​.​ DOI: https://doi.org/10.1093/hmg/10.26.3017 
    ​Details  DOI  PMID  PMC  WoS 
  • 2000 | Journal Article
    ​ ​Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis​
    Kornak, U. ; Schulz, A.; Friedrich, W.; Uhlhaas, S.; Kremens, B.; Voit, T. & Hasan, C. et al.​ (2000) 
    Human Molecular Genetics, 9(13) pp. 2059​-2063​.​ DOI: https://doi.org/10.1093/hmg/9.13.2059 
    ​Details  DOI  PMID  PMC 
  • 2000 | Journal Article
    ​ ​Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients​
    Huppke, P.; Laccone, F. A.; Kramer, N.; Engel, W. & Hanefeld, F.​ (2000) 
    Human Molecular Genetics, 9(9) pp. 1369​-1375​.​ DOI: https://doi.org/10.1093/hmg/9.9.1369 
    ​Details  DOI  PMID  PMC  WoS 
  • 1997 | Journal Article | Research Paper
    ​ ​Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations​
    Wollnik, B. ; Kubisch, C.; Steinmeyer, K. & Pusch, M. ​ (1997) 
    Human Molecular Genetics, 6(5) pp. 805​-811​.​ DOI: https://doi.org/10.1093/hmg/6.5.805 
    ​Details  DOI  PMID  PMC  WoS 
  • 1997 | Journal Article | Research Paper
    ​ ​Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias​
    Wollnik, B. ; Schroeder, B. C.; Kubisch, C.; Esperer, H. D.; Wieacker, P. & Jentsch, T. J.​ (1997) 
    Human Molecular Genetics, 6(11) pp. 1943​-1949​.​ DOI: https://doi.org/10.1093/hmg/6.11.1943 
    ​Details  DOI  PMID  PMC  WoS 
  • 1996 | Journal Article
    ​ ​A SPGY copy homologous to the mouse gene Dazla and the Drosophila gene boule is autosomal and expressed only in the human male gonad​
    Shan, Z.​ (1996) 
    Human Molecular Genetics, 5(12) pp. 2005​-2011​.​ DOI: https://doi.org/10.1093/hmg/5.12.2005 
    ​Details  DOI 
  • 1992 | Journal Article
    ​ ​A polymorphic synonymous mutation (K54K) in the human 70 kD peroxisomal membrane protein gene (PMP1)​
    Gärtner, J. ; Obie, C.; Moser, H. & Valle, D.​ (1992) 
    Human Molecular Genetics, 1(8) pp. 654​-654​.​ DOI: https://doi.org/10.1093/hmg/1.8.654 
    ​Details  DOI 

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