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Castaneda, Andy B; Petty, Lauren E; Scholz, Markus; Jansen, Rick; Weiss, Stefan; Zhang, Xiaoling; Schramm, Katharina; Beutner, Frank; Kirsten, Holger; Schminke, Ulf; Hwang, Shih-Jen; Marzi, Carola; Dhana, Klodian; Seldenrijk, Adrie; Krohn, Knut; Homuth, Georg; Wolf, Petra; Peters, Marjolein J; Dörr, Marcus; Peters, Annette; ... (2022). Associations of carotid intima media thickness with gene expression in whole blood and genetically predicted gene expression across 48 tissues. Human molecular genetics, 31(7), pp. 1171-1182. Oxford University Press 10.1093/hmg/ddab236
Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R; Bernat, John A; Bombei, Hannah M; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; ... (2022). De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Human molecular genetics, 31(3), pp. 440-454. Oxford University Press 10.1093/hmg/ddab265
Monteillet, Laure; Labrune, Philippe; Hochuli, Michel; Do Cao, Jeremy; Tortereau, Antonin; Miliano, Alexane Cannella; Ardon-Zitoun, Carine; Duchampt, Adeline; Silva, Marine; Verzieux, Vincent; Mithieux, Gilles; Rajas, Fabienne (2022). Cellular and metabolic effects of renin-angiotensin system blockade on glycogen storage disease type I nephropathy. Human molecular genetics, 31(6), pp. 914-928. Oxford University Press 10.1093/hmg/ddab297
Bell, Lorenz M; Holm, Annegret; Matysiak, Uta; Driever, Wolfgang; Rössler, Jochen; Schanze, Denny; Wieland, Ilse; Niemeyer, Charlotte M; Zenker, Martin; Kapp, Friedrich G (2021). Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos. Human molecular genetics, 31(1), pp. 10-17. Oxford University Press 10.1093/hmg/ddab196
Pace, Marta; Colombi, Ilaria; Falappa, Matteo; Freschi, Andrea; Bandarabadi, Mojtaba; Armirotti, Andrea; Encarnación, Blanco María; Adamantidis, Antoine R; Amici, Roberto; Cerri, Matteo; Chiappalone, Michela; Tucci, Valter (2020). Loss of Snord116 alters cortical neuronal activity in mice: a preclinical investigation of Prader-Willi syndrome. Human molecular genetics, 29(12), pp. 2051-2064. Oxford University Press 10.1093/hmg/ddaa084
Jackson, Christopher; Huemer, Martina; Bolognini, Ramona; Martin, Franck; Szinnai, Gabor; Donner, Birgit C; Richter, Uwe; Battersby, Brendan J; Nuoffer, Jean-Marc; Suomalainen, Anu; Schaller, André (2019). A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. Human molecular genetics, 28(4), pp. 639-649. Oxford University Press 10.1093/hmg/ddy374
Springelkamp, Henriët; Iglesias, Adriana I; Mishra, Aniket; Höhn, René; Wojciechowski, Robert; Khawaja, Anthony P; Nag, Abhishek; Wang, Ya Xing; Wang, Jie Jin; Cuellar-Partida, Gabriel; Gibson, Jane; Bailey, Jessica N Cooke; Vithana, Eranga N; Gharahkhani, Puya; Boutin, Thibaud; Ramdas, Wishal D; Zeller, Tanja; Luben, Robert N; Yonova-Doing, Ekaterina; Viswanathan, Ananth C; ... (2017). New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. Human molecular genetics, 26(2), pp. 438-453. Oxford University Press 10.1093/hmg/ddw399
Luedeke, Manuel; Rinckleb, Antje E; FitzGerald, Liesel M; Geybels, Milan S; Schleutker, Johanna; Eeles, Rosalind A; Teixeira, Manuel R; Cannon-Albright, Lisa; Ostrander, Elaine A; Weikert, Steffen; Herkommer, Kathleen; Wahlfors, Tiina; Visakorpi, Tapio; Leinonen, Katri A; Tammela, Teuvo L J; Cooper, Colin S; Kote-Jarai, Zsofia; Edwards, Sandra; Goh, Chee L; McCarthy, Frank; ... (2016). Prostate cancer risk regions at 8q24 and 17q24 are differentially associated with somatic TMPRSS2:ERG fusion status. Human molecular genetics, 25(24), pp. 5490-5499. Oxford University Press 10.1093/hmg/ddw349
Cornelis, Marilyn C; Kacprowski, Tim; Menni, Cristina; Gustafsson, Stefan; Pivin, Edward; Adamski, Jerzy; Artati, Anna; Eap, Chin B; Ehret, Georg; Friedrich, Nele; Ganna, Andrea; Guessous, Idris; Homuth, Georg; Lind, Lars; Magnusson, Patrik K; Mangino, Massimo; Pedersen, Nancy L; Pietzner, Maik; Suhre, Karsten; Völzke, Henry; ... (2016). Genome-wide association study of caffeine metabolites provides new insights to caffeine metabolism and dietary caffeine-consumption behavior. Human molecular genetics, 25(24), pp. 5472-5482. Oxford University Press 10.1093/hmg/ddw334
Gostyńska, Katarzyna B.; Nijenhuis, Miranda; Lemmink, Henny; Pas, Hendri H.; Pasmooij, Anna M.G.; Kernland Lang, Kristin; Castañón, Maria J.; Wiche, Gerhard; Jonkman, Marcel F. (2015). Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex. Human molecular genetics, 24(11), pp. 3155-3162. Oxford University Press 10.1093/hmg/ddv066
Guipponi, Michel; Chentouf, Amina; Webling, Kristin E.B.; Freimann, Krista; Crespel, Arielle; Nobile, Carlo; Lemke, Johannes R.; Hansen, Jörg; Dorn, Thomas; Lesca, Gaetan; Ryvlin, Philippe; Hirsch, Edouard; Rudolf, Gabrielle; Rosenberg, Dominique Sarah; Weber, Yvonne; Becker, Felicitas; Helbig, Ingo; Muhle, Hiltrud; Salzmann, Annick; Chaouch, Malika; ... (2015). Galanin pathogenic mutations in temporal lobe epilepsy. Human molecular genetics, 24(11), pp. 3082-3091. Oxford University Press 10.1093/hmg/ddv060
Stickel, Felix; Buch, Stephan; Zoller, Heinz; Hultcrantz, Rolf; Gallati, Sabina; Österreicher, Christoph; Finkenstedt, Armin; Stadlmayr, Andreas; Aigner, Elmar; Sahinbegovic, Enijad; Sarrazin, Christoph; Schafmayer, Clemens; Braun, Felix; Erhart, Wiebke; Nothnagel, Michael; Lerch, Markus M; Mayerle, Julia; Völzke, Henry; Schaller, André; Kratzer, Wolfgang; ... (2014). Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis. Human molecular genetics, 23(14), pp. 3883-3890. Oxford University Press 10.1093/hmg/ddu076
Reinthaler, Eva M; Lal, Dennis; Lebon, Sebastien; Hildebrand, Michael S; Dahl, Hans-Henrik M; Regan, Brigid M; Feucht, Martha; Steinböck, Hannelore; Neophytou, Birgit; Ronen, Gabriel M; Roche, Laurian; Gruber-Sedlmayr, Ursula; Geldner, Julia; Haberlandt, Edda; Hoffmann, Per; Herms, Stefan; Gieger, Christian; Waldenberger, Melanie; Franke, Andre; Wittig, Michael; ... (2014). 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Human molecular genetics, 23(22), pp. 6069-6080. Oxford University Press 10.1093/hmg/ddu306
Lane, Jérôme; McLaren, Paul J.; Dorrell, Lucy; Shianna, Kevin V.; Stemke, Amanda; Pelak, Kimberly; Moore, Stephen; Oldenburg, Johannes; Boehlen, Francoise; Alvarez-Roman, Maria Teresa; Angelillo-Scherrer, Anne; Bolton-Maggs, Paula H. B.; Brand, Brigit; Brown, Deborah; Chiang, Elaine; Cid-Haro, Ana Rosa; Clotet, Bonaventura; Collins, Peter; Colombo, Sara; Dalmau, Judith; ... (2013). A genome-wide association study of resistance to HIV infection in highly exposed uninfected individuals with hemophilia A. Human molecular genetics, 22(9), pp. 1903-1910. Oxford University Press 10.1093/hmg/ddt033
Carreras-Sureda, Amado; Cantero-Recasens, Gerard; Rubio-Moscardo, Fanny; Kiefer, Kerstin; Peinelt, Christine; Niemeyer, Barbara A; Valverde, Miguel A; Vicente, Rubén (2013). ORMDL3 modulates store-operated calcium entry and lymphocyte activation. Human molecular genetics, 22(3), pp. 519-530. Oxford University Press 10.1093/hmg/dds450
Oexle, Konrad; Ried, Janina S; Hicks, Andrew A; Tanaka, Toshiko; Hayward, Caroline; Bruegel, Mathias; Gögele, Martin; Lichtner, Peter; Müller-Myhsok, Bertram; Döring, Angela; Illig, Thomas; Schwienbacher, Christine; Minelli, Cosetta; Pichler, Irene; Fiedler, G Martin; Thiery, Joachim; Rudan, Igor; Wright, Alan F; Campbell, Harry; Ferrucci, Luigi; ... (2011). Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. Human molecular genetics, 20(5), pp. 1042-7. Oxford: Oxford University Press 10.1093/hmg/ddq538
Zaucke, Frank; Boehnlein, Joana M; Steffens, Sarah; Polishchuk, Roman S; Rampoldi, Luca; Fischer, Andreas; Pasch, Andreas; Boehm, Christoph W A; Baasner, Anne; Attanasio, Massimo; Hoppe, Bernd; Hopfer, Helmut; Beck, Bodo B; Sayer, John A; Hildebrandt, Friedhelm; Wolf, Matthias T F (2010). Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. Human molecular genetics, 19(10), pp. 1985-97. Oxford: Oxford University Press 10.1093/hmg/ddq077
Meyer, Kathrin; Marquis, Julien; Trüb, Judith; Nlend Nlend, Rachel; Verp, Sonia; Ruepp, Marc-David; Imboden, Hans; Barde, Isabelle; Trono, Didier; Schümperli, Daniel (2009). Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation. Human molecular genetics, 18(3), pp. 546-555. Oxford: Oxford University Press 10.1093/hmg/ddn382
Choquet, Hélène; Cavalcanti-Proença, Christine; Lecoeur, Cécile; Dina, Christian; Cauchi, Stéphane; Vaxillaire, Martine; Hadjadj, Samy; Horber, Fritz; Potoczna, Natasha; Charpentier, Guillaume; Ruiz, Juan; Hercberg, Serge; Maimaitiming, Suliya; Roussel, Ronan; Boenhnke, Michael; Jackson, Anne U.; Patsch, Wolfgang; Krempler, Franz; Voight, Benjamin F.; Altshuler, David; ... (2009). The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects. Human molecular genetics, 18(13), pp. 2495-2501. Oxford University Press 10.1093/hmg/ddp169
Suzuki, Yoshiro; Pasch, Andreas; Bonny, Olivier; Mohaupt, Markus G; Hediger, Matthias A; Frey, Felix J (2008). Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation. Human molecular genetics, 17(11), pp. 1613-8. Oxford: Oxford University Press 10.1093/hmg/ddn048
Kyriakou, Theodosios; Pontefract, David E; Viturro, Enrique; Hodgkinson, Conrad P; Laxton, Ross C; Bogari, Neda; Cooper, George; Davies, Michael; Giblett, Joel; Day, Ian N M; Simpson, Iain A; Albrecht, Christiane; Ye, Shu (2007). Functional polymorphism in ABCA1 influences age of symptom onset in coronary artery disease patients. Human molecular genetics, 16(12), pp. 1412-22. Oxford: Oxford University Press 10.1093/hmg/ddm091
Huentelman, Matthew; Papassotiropoulos, Andreas; Craig, David; Hoerndli, Frederic; Pearson, John; Huynh, Kim-Dung; Corneveaux, Janson; Hanggi, Jürgen; Mondadori, Christian; Buchmann, Andreas; Reiman, Eric; Henke, Katharina; de Quervain, Dominique; Stephan, Dietrich (2007). Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance. Human molecular genetics, 16(12), pp. 1469-1477. Oxford: Oxford University Press 10.1093/hmg/ddm097
Brockington, Martin; Yuva, Yeliz; Prandini, Paola; Brown, Susan C.; Torelli, Silvia; Benson, Matthew A.; Herrmann, Ralf; Anderson, Louise V.B.; Bashir, Rumaisa; Burgunder, Jean-Marc; Fallet, Shari; Romero, Norma; Fardeau, Michel; Straub, Volker; Storey, Gillian; Pollitt, Christine; Richard, Isabelle; Sewry, Caroline A.; Bushby, Kate; Voit, Thomas; ... (2001). Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Human molecular genetics, 10(25), pp. 2851-2859. Oxford University Press 10.1093/hmg/10.25.2851
Suter, Daniel; Tomasini, Reto; Reber, Ueli; Gorman, Linda; Kole, Ryszard; Schümperli, Daniel (1999). Double-target antisense U7 snRNAs promote efficient skipping of an aberrant exon in three human β-thalassemic mutations. Human molecular genetics, 8(13), pp. 2415-2423. Oxford University Press 10.1093/hmg/8.13.2415
Laporte, Jocelyn; Guiraud-Chaumeil, Christophe; Vincent, Marie-Claire; Mandel, Jean-Louis; Tanner, Stephan M.; Gallati, Sabina; Wallgren-Pettersson, Carina; Dahl, Niklas; Kress, Wolfram; Bolhuis, Pieter A.; Fardeau, Michel; Samson, Françoise; Bertini, Enrico (1997). Mutations in the MTM1 Gene Implicated in X-Linked Myotubular Myopathy. Human molecular genetics, 6(9), pp. 1505-1511. Oxford University Press 10.1093/hmg/6.9.1505
Schloesser, Manfred; Hofferbert, Sigrun; Bartz, Ute; Lutze, Gerd; Lämmle, Bernhard; Engel, Wolfgang (1995). The novel acceptor splice site mutation 11396(G→A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients. Human molecular genetics, 4(7), pp. 1235-1237. Oxford University Press 10.1093/hmg/4.7.1235
Cao, Y.; Wagner, J.K.; Eblé, A.; Hindmarsh, P.; Mullis, P.E. (1994). BamHI RFLP for the GHRHR locus. Human molecular genetics, 3(4), p. 682. Oxford University Press 10.1093/hmg/3.4.682
Sander, A.K.; Gallati, Sabina; Kunze, N.; Moser, H.; Zingg, M.; Raveh, J. (1992). An EcoRI polymorphism for the glutaminyl-tRNA synthetase (QARS) gene on chromosome 1q. Human molecular genetics, 1(4), p. 288. Oxford University Press 10.1093/hmg/1.4.288
