Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

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Publikationen

Suchbegriffe: PHENOTYPE - , . Treffer: 455

2022

Kanoni, S; Graham, SE; Wang, Y; Surakka, I; Ramdas, S; Zhu, X; Clarke, SL; Bhatti, KF; Vedantam, S; Winkler, TW; Locke, AE; Marouli, E; Zajac, GJM; Wu, KH; Ntalla, I; Hui, Q; Klarin, D; Hilliard, AT; Wang, Z; Xue, C; Thorleifsson, G; Helgadottir, A; Gudbjartsson, DF; Holm, H; Olafsson, I; Hwang, MY; Han, S; Akiyama, M; Sakaue, S; Terao, C; Kanai, M; Zhou, W; Brumpton, BM; Rasheed, H; Havulinna, AS; Veturi, Y; Pacheco, JA; Rosenthal, EA; Lingren, T; Feng, Q; Kullo, IJ; Narita, A; Takayama, J; Martin, HC; Hunt, KA; Trivedi, B; Haessler, J; Giulianini, F; Bradford, Y; Miller, JE; Campbell, A; Lin, K; Millwood, IY; Rasheed, A; Hindy, G; Faul, JD; Zhao, W; Weir, DR; Turman, C; Huang, H; Graff, M; Choudhury, A; Sengupta, D; Mahajan, A; Brown, MR; Zhang, W; Yu, K; Schmidt, EM; Pandit, A; Gustafsson, S; Yin, X; Luan, J; Zhao, JH; Matsuda, F; Jang, HM; Yoon, K; Medina-Gomez, C; Pitsillides, A; Hottenga, JJ; Wood, AR; Ji, Y; Gao, Z; Haworth, S; Yousri, NA; Mitchell, RE; Chai, JF; Aadahl, M; Bjerregaard, AA; Yao, J; Manichaikul, A; Hwu, CM; Hung, YJ; Warren, HR; Ramirez, J; Bork-Jensen, J; Kårhus, LL; Goel, A; Sabater-Lleal, M; Noordam, R; Mauro, P; Matteo, F; McDaid, AF; Marques-Vidal, P; Wielscher, M; Trompet, S; Sattar, N; Møllehave, LT; Munz, M; Zeng, L; Huang, J; Yang, B; Poveda, A; Kurbasic, A; Lamina, C; Forer, L; Scholz, M; Galesloot, TE; Bradfield, JP; Ruotsalainen, SE; Daw, E; Zmuda, JM; Mitchell, JS; Fuchsberger, C; Christensen, H; Brody, JA; Vazquez-Moreno, M; Feitosa, MF; Wojczynski, MK; Wang, Z; Preuss, MH; Mangino, M; Christofidou, P; Verweij, N; Benjamins, JW; Engmann, J; Tsao, NL; Verma, A; Slieker, RC; Lo, KS; Zilhao, NR; Le, P; Kleber, ME; Delgado, GE; Huo, S; Ikeda, DD; Iha, H; Yang, J; Liu, J; Demirkan, A; Leonard, HL; Marten, J; Frank, M; Schmidt, B; Smyth, LJ; Cañadas-Garre, M; Wang, C; Nakatochi, M; Wong, A; Hutri-Kähönen, N; Sim, X; Xia, R; Huerta-Chagoya, A; Fernandez-Lopez, JC; Lyssenko, V; Nongmaithem, SS; Bayyana, S; Stringham, HM; Irvin, MR; Oldmeadow, C; Kim, HN; Ryu, S; Timmers, PRHJ; Arbeeva, L; Dorajoo, R; Lange, LA; Prasad, G; Lorés-Motta, L; Pauper, M; Long, J; Li, X; Theusch, E; Takeuchi, F; Spracklen, CN; Loukola, A; Bollepalli, S; Warner, SC; Wang, YX; Wei, WB; Nutile, T; Ruggiero, D; Sung, YJ; Chen, S; Liu, F; Yang, J; Kentistou, KA; Banas, B; Nardone, GG; Meidtner, K; Bielak, LF; Smith, JA; Hebbar, P; Farmaki, AE; Hofer, E; Lin, M; Concas, MP; Vaccargiu, S; van, der, Most, PJ; Pitkänen, N; Cade, BE; van, der, Laan, SW; Chitrala, KN; Weiss, S; Bentley, AR; Doumatey, AP; Adeyemo, AA; Lee, JY; Petersen, ERB; Nielsen, AA; Choi, HS; Nethander, M; Freitag-Wolf, S; Southam, L; Rayner, NW; Wang, CA; Lin, SY; Wang, JS; Couture, C; Lyytikäinen, LP; Nikus, K; Cuellar-Partida, G; Vestergaard, H; Hidalgo, B; Giannakopoulou, O; Cai, Q; Obura, MO; van, Setten, J; Li, X; Liang, J; Tang, H; Terzikhan, N; Shin, JH; Jackson, RD; Reiner, AP; Martin, LW; Chen, Z; Li, L; Kawaguchi, T; Thiery, J; Bis, JC; Launer, LJ; Li, H; Nalls, MA; Raitakari, OT; Ichihara, S; Wild, SH; Nelson, CP; Campbell, H; Jäger, S; Nabika, T; Al-Mulla, F; Niinikoski, H; Braund, PS; Kolcic, I; Kovacs, P; Giardoglou, T; Katsuya, T; de, Kleijn, D; de, Borst, GJ; Kim, EK; Adams, HHH; Ikram, MA; Zhu, X; Asselbergs, FW; Kraaijeveld, AO; Beulens, JWJ; Shu, XO; Rallidis, LS; Pedersen, O; Hansen, T; Mitchell, P; Hewitt, AW; Kähönen, M; Pérusse, L; Bouchard, C; Tönjes, A; Chen, YI; Pennell, CE; Mori, TA; Lieb, W; Franke, A; Ohlsson, C; Mellström, D; Cho, YS; Lee, H ... Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
Genome Biol. 2022; 23(1):268 Doi: 10.1186/s13059-022-02837-1 [OPEN ACCESS]
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König, T; Wurm, R; Parvizi, T; Silvaieh, S; Hotzy, C; Cetin, H; Klotz, S; Gelpi, E; Bancher, C; Benke, T; Dal-Bianco, P; Defrancesco, M; Fischer, P; Marksteiner, J; Sutterlüty, H; Ransmayr, G; Schmidt, R; Zimprich, A; Stögmann, E C9orf72 repeat length might influence clinical sub-phenotypes in dementia patients.
Neurobiol Dis. 2022; 175: 105927 Doi: 10.1016/j.nbd.2022.105927
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Yang, L; Booth, C; Speckmann, C; Seidel, MG; Worth, AJJ; Kindle, G; Lankester, AC; Grimbacher, B; Gennery, AR; Seppanen, MRJ; Morris, EC; Burns, SO, , ESID, Clinical, and, Registry, Working, Parties Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency.
J Allergy Clin Immunol. 2022; 150(2):456-466 Doi: 10.1016/j.jaci.2021.10.037
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Yengo, L; Vedantam, S; Marouli, E; Sidorenko, J; Bartell, E; Sakaue, S; Graff, M; Eliasen, AU; Jiang, Y; Raghavan, S; Miao, J; Arias, JD; Graham, SE; Mukamel, RE; Spracklen, CN; Yin, X; Chen, SH; Ferreira, T; Highland, HH; Ji, Y; Karaderi, T; Lin, K; Lüll, K; Malden, DE; Medina-Gomez, C; Machado, M; Moore, A; Rüeger, S; Sim, X; Vrieze, S; Ahluwalia, TS; Akiyama, M; Allison, MA; Alvarez, M; Andersen, MK; Ani, A; Appadurai, V; Arbeeva, L; Bhaskar, S; Bielak, LF; Bollepalli, S; Bonnycastle, LL; Bork-Jensen, J; Bradfield, JP; Bradford, Y; Braund, PS; Brody, JA; Burgdorf, KS; Cade, BE; Cai, H; Cai, Q; Campbell, A; Cañadas-Garre, M; Catamo, E; Chai, JF; Chai, X; Chang, LC; Chang, YC; Chen, CH; Chesi, A; Choi, SH; Chung, RH; Cocca, M; Concas, MP; Couture, C; Cuellar-Partida, G; Danning, R; Daw, EW; Degenhard, F; Delgado, GE; Delitala, A; Demirkan, A; Deng, X; Devineni, P; Dietl, A; Dimitriou, M; Dimitrov, L; Dorajoo, R; Ekici, AB; Engmann, JE; Fairhurst-Hunter, Z; Farmaki, AE; Faul, JD; Fernandez-Lopez, JC; Forer, L; Francescatto, M; Freitag-Wolf, S; Fuchsberger, C; Galesloot, TE; Gao, Y; Gao, Z; Geller, F; Giannakopoulou, O; Giulianini, F; Gjesing, AP; Goel, A; Gordon, SD; Gorski, M; Grove, J; Guo, X; Gustafsson, S; Haessler, J; Hansen, TF; Havulinna, AS; Haworth, SJ; He, J; Heard-Costa, N; Hebbar, P; Hindy, G; Ho, YA; Hofer, E; Holliday, E; Horn, K; Hornsby, WE; Hottenga, JJ; Huang, H; Huang, J; Huerta-Chagoya, A; Huffman, JE; Hung, YJ; Huo, S; Hwang, MY; Iha, H; Ikeda, DD; Isono, M; Jackson, AU; Jäger, S; Jansen, IE; Johansson, I; Jonas, JB; Jonsson, A; Jørgensen, T; Kalafati, IP; Kanai, M; Kanoni, S; Kårhus, LL; Kasturiratne, A; Katsuya, T; Kawaguchi, T; Kember, RL; Kentistou, KA; Kim, HN; Kim, YJ; Kleber, ME; Knol, MJ; Kurbasic, A; Lauzon, M; Le, P; Lea, R; Lee, JY; Leonard, HL; Li, SA; Li, X; Li, X; Liang, J; Lin, H; Lin, SY; Liu, J; Liu, X; Lo, KS; Long, J; Lores-Motta, L; Luan, J; Lyssenko, V; Lyytikäinen, LP; Mahajan, A; Mamakou, V; Mangino, M; Manichaikul, A; Marten, J; Mattheisen, M; Mavarani, L; McDaid, AF; Meidtner, K; Melendez, TL; Mercader, JM; Milaneschi, Y; Miller, JE; Millwood, IY; Mishra, PP; Mitchell, RE; Møllehave, LT; Morgan, A; Mucha, S; Munz, M; Nakatochi, M; Nelson, CP; Nethander, M; Nho, CW; Nielsen, AA; Nolte, IM; Nongmaithem, SS; Noordam, R; Ntalla, I; Nutile, T; Pandit, A; Christofidou, P; Pärna, K; Pauper, M; Petersen, ERB; Petersen, LV; Pitkänen, N; Polašek, O; Poveda, A; Preuss, MH; Pyarajan, S; Raffield, LM; Rakugi, H; Ramirez, J; Rasheed, A; Raven, D; Rayner, NW; Riveros, C; Rohde, R; Ruggiero, D; Ruotsalainen, SE; Ryan, KA; Sabater-Lleal, M; Saxena, R; Scholz, M; Sendamarai, A; Shen, B; Shi, J; Shin, JH; Sidore, C; Sitlani, CM; Slieker, RC; Smit, RAJ; Smith, AV; Smith, JA; Smyth, LJ; Southam, L; Steinthorsdottir, V; Sun, L; Takeuchi, F; Tallapragada, DSP; Taylor, KD; Tayo, BO; Tcheandjieu, C; Terzikhan, N; Tesolin, P; Teumer, A; Theusch, E; Thompson, DJ; Thorleifsson, G; Timmers, PRHJ; Trompet, S; Turman, C; Vaccargiu, S; van, der, Laan, SW; van, der, Most, PJ; van, Klinken, JB; van, Setten, J; Verma, SS; Verweij, N; Veturi, Y; Wang, CA; Wang, C; Wang, L; Wang, Z; Warren, HR; Bin, Wei, W; Wickremasinghe, AR; Wielscher, M; Wiggins, KL; Winsvold, BS; Wong, A; Wu, Y; Wuttke, M; Xia, R; Xie, T; Yamamoto, K; Yang, J; Yao, J; Young, H; Yousri, NA; Yu, L; Zeng, L; Zhang, W; Zhang, X; Zhao, JH; Zhao, W; Zhou, W; Zimmermann, ME; Zoledziewska, M; Adair, LS; Adams, HHH; Aguilar-Salinas, CA; Al-Mulla, F; Arnett, DK; Asse ... A saturated map of common genetic variants associated with human height.
Nature. 2022; 610(7933):704-712 Doi: 10.1038/s41586-022-05275-y [OPEN ACCESS]
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2021

Al, Kaissi, A; Misof, BM; Laccone, F; Blouin, S; Roschger, P; Kircher, SG; Shboul, M; Mindler, GT; Girsch, W; Ganger, R Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome.
Calcif Tissue Int. 2021; 109(5):586-595 Doi: 10.1007/s00223-021-00862-z (- Case Report)
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Alexander, Y; Osto, E; Schmidt-Trucksäss, A; Shechter, M; Trifunovic, D; Duncker, DJ; Aboyans, V; Bäck, M; Badimon, L; Cosentino, F; De, Carlo, M; Dorobantu, M; Harrison, DG; Guzik, TJ; Hoefer, I; Morris, PD; Norata, GD; Suades, R; Taddei, S; Vilahur, G; Waltenberger, J; Weber, C; Wilkinson, F; Bochaton-Piallat, ML; Evans, PC Endothelial function in cardiovascular medicine: a consensus paper of the European Society of Cardiology Working Groups on Atherosclerosis and Vascular Biology, Aorta and Peripheral Vascular Diseases, Coronary Pathophysiology and Microcirculation, and Thrombosis.
Cardiovasc Res. 2021; 117(1):29-42 Doi: 10.1093/cvr/cvaa085 [OPEN ACCESS]
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Alonso, N; Wani, S; Rose, L; Van't, Hof, RJ; Ralston, SH; Albagha, OME Insertion Mutation in Tnfrsf11a Causes a Paget's Disease-Like Phenotype in Heterozygous Mice and Osteopetrosis in Homozygous Mice.
J Bone Miner Res. 2021; 36(7):1376-1386 Doi: 10.1002/jbmr.4288
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Höller, V; Seebacher, H; Zach, D; Schwegel, N; Ablasser, K; Kolesnik, E; Gollmer, J; Waltl, G; Rainer, PP; Verheyen, S; Zirlik, A; Verheyen, N Myocardial Deformation Analysis in MYBPC3 and MYH7 Related Sarcomeric Hypertrophic Cardiomyopathy-The Graz Hypertrophic Cardiomyopathy Registry.
Genes (Basel). 2021; 12(10): Doi: 10.3390/genes12101469 [OPEN ACCESS]
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Lagou, V; Mägi, R; Hottenga, JJ; Grallert, H; Perry, JRB; Bouatia-Naji, N; Marullo, L; Rybin, D; Jansen, R; Min, JL; Dimas, AS; Ulrich, A; Zudina, L; Gådin, JR; Jiang, L; Faggian, A; Bonnefond, A; Fadista, J; Stathopoulou, MG; Isaacs, A; Willems, SM; Navarro, P; Tanaka, T; Jackson, AU; Montasser, ME; O'Connell, JR; Bielak, LF; Webster, RJ; Saxena, R; Stafford, JM; Pourcain, BS; Timpson, NJ; Salo, P; Shin, SY; Amin, N; Smith, AV; Li, G; Verweij, N; Goel, A; Ford, I; Johnson, PCD; Johnson, T; Kapur, K; Thorleifsson, G; Strawbridge, RJ; Rasmussen-Torvik, LJ; Esko, T; Mihailov, E; Fall, T; Fraser, RM; Mahajan, A; Kanoni, S; Giedraitis, V; Kleber, ME; Silbernagel, G; Meyer, J; Müller-Nurasyid, M; Ganna, A; Sarin, AP; Yengo, L; Shungin, D; Luan, J; Horikoshi, M; An, P; Sanna, S; Boettcher, Y; Rayner, NW; Nolte, IM; Zemunik, T; Iperen, EV; Kovacs, P; Hastie, ND; Wild, SH; McLachlan, S; Campbell, S; Polasek, O; Carlson, O; Egan, J; Kiess, W; Willemsen, G; Kuusisto, J; Laakso, M; Dimitriou, M; Hicks, AA; Rauramaa, R; Bandinelli, S; Thorand, B; Liu, Y; Miljkovic, I; Lind, L; Doney, A; Perola, M; Hingorani, A; Kivimaki, M; Kumari, M; Bennett, AJ; Groves, CJ; Herder, C; Koistinen, HA; Kinnunen, L; Faire, U; Bakker, SJL; Uusitupa, M; Palmer, CNA; Jukema, JW; Sattar, N; Pouta, A; Snieder, H; Boerwinkle, E; Pankow, JS; Magnusson, PK; Krus, U; Scapoli, C; de Geus, EJCN; Blüher, M; Wolffenbuttel, BHR; Province, MA; Abecasis, GR; Meigs, JB; Hovingh, GK; Lindström, J; Wilson, JF; Wright, AF; Dedoussis, GV; Bornstein, SR; Schwarz, PEH; Tönjes, A; Winkelmann, BR; Boehm, BO; März, W; Metspalu, A; Price, JF; Deloukas, P; Körner, A; Lakka, TA; Keinanen-Kiukaanniemi, SM; Saaristo, TE; Bergman, RN; Tuomilehto, J; Wareham, NJ; Langenberg, C; Männistö, S; Franks, PW; Hayward, C; Vitart, V; Kaprio, J; Visvikis-Siest, S; Balkau, B; Altshuler, D; Rudan, I; Stumvoll, M; Campbell, H; van Duijn, CM; Gieger, C; Illig, T; Ferrucci, L; Pedersen, NL; Pramstaller, PP; Boehnke, M; Frayling, TM; Shuldiner, AR; Peyser, PA; Kardia, SLR; Palmer, LJ; Penninx, BW; Meneton, P; Harris, TB; Navis, G; Harst, PV; Smith, GD; Forouhi, NG; Loos, RJF; Salomaa, V; Soranzo, N; Boomsma, DI; Groop, L; Tuomi, T; Hofman, A; Munroe, PB; Gudnason, V; Siscovick, DS; Watkins, H; Lecoeur, C; Vollenweider, P; Franco-Cereceda, A; Eriksson, P; Jarvelin, MR; Stefansson, K; Hamsten, A; Nicholson, G; Karpe, F; Dermitzakis, ET; Lindgren, CM; McCarthy, MI; Froguel, P; Kaakinen, MA; Lyssenko, V; Watanabe, RM; Ingelsson, E; Florez, JC; Dupuis, J; Barroso, I; Morris, AP; Prokopenko, I; Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC) Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability.
Nat Commun. 2021; 12(1): 24-24. Doi: 10.1038/s41467-020-19366-9 [OPEN ACCESS]
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Meyer, R; Begemann, M; Hübner, CT; Dey, D; Kuechler, A; Elgizouli, M; Schara, U; Ambrozaityte, L; Burnyte, B; Schröder, C; Kenawy, A; Kroisel, P; Demuth, S; Fekete, G; Opladen, T; Elbracht, M; Eggermann, T One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
Orphanet J Rare Dis. 2021; 16(1): 42 Doi: 10.1186/s13023-021-01683-x [OPEN ACCESS]
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Seidl-Mlczoch, E; Kasprian, G; Ba-Ssalamah, A; Stuempflen, M; Kitzmueller, E; Muin, DA; Zimpfer, D; Prayer, D; Michel-Behnke, I; Ulm, B Characterization of phenotypic spectrum of fetal heterotaxy syndrome by combining ultrasound and magnetic resonance imaging.
Ultrasound Obstet Gynecol. 2021; 58(6): 837-845. Doi: 10.1002/uog.23705 [OPEN ACCESS]
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Tardelli, M; Bruschi, FV; Fuchs, CD; Claudel, T; Auer, N; Kunczer, V; Ronda, OAHO; Verkade, HJ; Stojakovic, T; Scharnagl, H; Trauner, M Absence of Adiponutrin (PNPLA3) and Monoacylglycerol Lipase Synergistically Increases Weight Gain and Aggravates Steatohepatitis in Mice.
Int J Mol Sci. 2021; 22(4): Doi: 10.3390/ijms22042126 [OPEN ACCESS]
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Voisin, N; Schnur, RE; Douzgou, S; Hiatt, SM; Rustad, CF; Brown, NJ; Earl, DL; Keren, B; Levchenko, O; Geuer, S; Verheyen, S; Johnson, D; Zarate, YA; Hančárová, M; Amor, DJ; Bebin, EM; Blatterer, J; Brusco, A; Cappuccio, G; Charrow, J; Chatron, N; Cooper, GM; Courtin, T; Dadali, E; Delafontaine, J; Del, Giudice, E; Doco, M; Douglas, G; Eisenkölbl, A; Funari, T; Giannuzzi, G; Gruber-Sedlmayr, U; Guex, N; Heron, D; Holla, ØL; Hurst, ACE; Juusola, J; Kronn, D; Lavrov, A; Lee, C; Lorrain, S; Merckoll, E; Mikhaleva, A; Norman, J; Pradervand, S; Prchalová, D; Rhodes, L; Sanders, VR; Sedláček, Z; Seebacher, HA; Sellars, EA; Sirchia, F; Takenouchi, T; Tanaka, AJ; Taska-Tench, H; Tønne, E; Tveten, K; Vitiello, G; Vlčková, M; Uehara, T; Nava, C; Yalcin, B; Kosaki, K; Donnai, D; Mundlos, S; Brunetti-Pierri, N; Chung, WK; Reymond, A Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
AM J HUM GENET. 2021; 108(5): 857-873. Doi: 10.1016/j.ajhg.2021.04.001 [OPEN ACCESS]
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2020

Abdel-Aziz, MI; Brinkman, P; Vijverberg, SJH; Neerincx, AH; de, Vries, R; Dagelet, YWF; Riley, JH; Hashimoto, S; Montuschi, P; Chung, KF; Djukanovic, R; Fleming, LJ; Murray, CS; Frey, U; Bush, A; Singer, F; Hedlin, G; Roberts, G; Dahlén, SE; Adcock, IM; Fowler, SJ; Knipping, K; Sterk, PJ; Kraneveld, AD; Maitland-van, der, Zee, AH, , U-BIOPRED, Study, Group;Amsterdam, UMC, Breath, Research, Group eNose breath prints as a surrogate biomarker for classifying patients with asthma by atopy.
J Allergy Clin Immunol. 2020; 146(5):1045-1055 Doi: 10.1016/j.jaci.2020.05.038
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Cruz, AA; Riley, JH; Bansal, AT; Ponte, EV; Souza-Machado, A; Almeida, PCA; Biao-Lima, V; Davis, M; Bates, S; Adcock, IM; Sterk, PJ; Chung, KF, , ProAR, Study, Group;U-BIOPRED, Study, Groups, , ProAR, Study, Group;U-BIOPRED, Study, Groups Asthma similarities across ProAR (Brazil) and U-BIOPRED (Europe) adult cohorts of contrasting locations, ethnicity and socioeconomic status.
Respir Med. 2020; 161:105817 Doi: 10.1016/j.rmed.2019.105817
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Hofer, E; Roshchupkin, GV; Adams, HHH; Knol, MJ; Lin, H; Li, S; Zare, H; Ahmad, S; Armstrong, NJ; Satizabal, CL; Bernard, M; Bis, JC; Gillespie, NA; Luciano, M; Mishra, A; Scholz, M; Teumer, A; Xia, R; Jian, X; Mosley, TH; Saba, Y; Pirpamer, L; Seiler, S; Becker, JT; Carmichael, O; Rotter, JI; Psaty, BM; Lopez, OL; Amin, N; van der Lee, SJ; Yang, Q; Himali, JJ; Maillard, P; Beiser, AS; DeCarli, C; Karama, S; Lewis, L; Harris, M; Bastin, ME; Deary, IJ; Veronica Witte, A; Beyer, F; Loeffler, M; Mather, KA; Schofield, PR; Thalamuthu, A; Kwok, JB; Wright, MJ; Ames, D; Trollor, J; Jiang, J; Brodaty, H; Wen, W; Vernooij, MW; Hofman, A; Uitterlinden, AG; Niessen, WJ; Wittfeld, K; Bülow, R; Völker, U; Pausova, Z; Bruce Pike, G; Maingault, S; Crivello, F; Tzourio, C; Amouyel, P; Mazoyer, B; Neale, MC; Franz, CE; Lyons, MJ; Panizzon, MS; Andreassen, OA; Dale, AM; Logue, M; Grasby, KL; Jahanshad, N; Painter, JN; Colodro-Conde, L; Bralten, J; Hibar, DP; Lind, PA; Pizzagalli, F; Stein, JL; Thompson, PM; Medland, SE; ENIGMA consortium; Sachdev, PS; Kremen, WS; Wardlaw, JM; Villringer, A; van Duijn, CM; Grabe, HJ; Longstreth, WT; Fornage, M; Paus, T; Debette, S; Arfan Ikram, M; Schmidt, H; Schmidt, R; Seshadri, S Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults.
Nat Commun. 2020; 11(1): 4796-4796. Doi: 10.1038/s41467-020-18367-y [OPEN ACCESS]
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Santiago-Fernández, C; Martin-Reyes, F; Tome, M; Ocaña-Wilhelmi, L; Rivas-Becerra, J; Tatzber, F; Pursch, E; Tinahones, FJ; García-Fuentes, E; Garrido-Sánchez, L Oxidized LDL Modify the Human Adipocyte Phenotype to an Insulin Resistant, Proinflamatory and Proapoptotic Profile.
BIOMOLECULES. 2020; 10(4): Doi: 10.3390/biom10040534 [OPEN ACCESS]
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Tapking, C; Prasai, A; Branski, LK Are hypertrophic scars and keloids the same?
Br J Dermatol. 2020; 182(4):832-833 Doi: 10.1111/bjd.18447
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Turro, E; Astle, WJ; Megy, K; Gräf, S; Greene, D; Shamardina, O; Allen, HL; Sanchis-Juan, A; Frontini, M; Thys, C; Stephens, J; Mapeta, R; Burren, OS; Downes, K; Haimel, M; Tuna, S; Deevi, SVV; Aitman, TJ; Bennett, DL; Calleja, P; Carss, K; Caulfield, MJ; Chinnery, PF; Dixon, PH; Gale, DP; James, R; Koziell, A; Laffan, MA; Levine, AP; Maher, ER; Markus, HS; Morales, J; Morrell, NW; Mumford, AD; Ormondroyd, E; Rankin, S; Rendon, A; Richardson, S; Roberts, I; Roy, NBA; Saleem, MA; Smith, KGC; Stark, H; Tan, RYY; Themistocleous, AC; Thrasher, AJ; Watkins, H; Webster, AR; Wilkins, MR; Williamson, C; Whitworth, J; Humphray, S; Bentley, DR; NIHR BioResource for the 100,000 Genomes Project; Kingston, N; Walker, N; Bradley, JR; Ashford, S; Penkett, CJ; Freson, K; Stirrups, KE; Raymond, FL; Ouwehand, WH Whole-genome sequencing of patients with rare diseases in a national health system.
Nature. 2020; 583(7814): 96-102. Doi: 10.1038/s41586-020-2434-2 [OPEN ACCESS]
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van de Putte, R; van Rooij, IALM; Marcelis, CLM; Guo, M; Brunner, HG; Addor, MC; Cavero-Carbonell, C; Dias, CM; Draper, ES; Etxebarriarteun, L; Gatt, M; Haeusler, M; Khoshnood, B; Klungsoyr, K; Kurinczuk, JJ; Lanzoni, M; Latos-Bielenska, A; Luyt, K; O'Mahony, MT; Miller, N; Mullaney, C; Nelen, V; Neville, AJ; Perthus, I; Pierini, A; Randrianaivo, H; Rankin, J; Rissmann, A; Rouget, F; Schaub, B; Tucker, D; Wellesley, D; Wiesel, A; Zymak-Zakutnia, N; Loane, M; Barisic, I; de Walle, HEK; Roeleveld, N; Bergman, JEH Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study.
Pediatr Res. 2020; 87(3):541-549 Doi: 10.1038/s41390-019-0561-y [OPEN ACCESS]
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Wang, H; Humbatova, A; Liu, Y; Qin, W; Lee, M; Cesarato, N; Kortüm, F; Kumar, S; Romano, MT; Dai, S; Mo, R; Sivalingam, S; Motameny, S; Wu, Y; Wang, X; Niu, X; Geng, S; Bornholdt, D; Kroisel, PM; Tadini, G; Walter, SD; Hauck, F; Girisha, KM; Calza, AM; Bottani, A; Altmüller, J; Buness, A; Yang, S; Sun, X; Ma, L; Kutsche, K; Grzeschik, KH; Betz, RC; Lin, Z Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
Am J Hum Genet. 2020; 107(1):34-45 Doi: 10.1016/j.ajhg.2020.05.006 [OPEN ACCESS]
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Zhou, J; Passero, K; Palmiero, NE; Müller-Myhsok, B; Kleber, ME; Maerz, W; Hall, MA Investigation of gene-gene interactions in cardiac traits and serum fatty acid levels in the LURIC Health Study.
PLoS One. 2020; 15(9):e0238304-e0238304 Doi: 10.1371/journal.pone.0238304 [OPEN ACCESS]
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2019

Allerkamp, H; Lehner, S; Ekhlasi-Hundrieser, M; Detering, C; Pfarrer, C; Depka, Prondzinski, MV Characterization of a Porcine Model for Von Willebrand Disease Type 1 and 3 Regarding Expression of Angiogenic Mediators in the Nonpregnant Female Reproductive Tract.
Comp Med. 2019; 69(5): 401-412. Doi: 10.30802/AALAS-CM-19-000003 [OPEN ACCESS]
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Arash-Kaps, L; Komlosi, K; Seegräber, M; Diederich, S; Paschke, E; Amraoui, Y; Beblo, S; Dieckmann, A; Smitka, M; Hennermann, JB The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
J Pediatr. 2019; 215(12):152-157 Doi: 10.1016/j.jpeds.2019.08.016
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Begemann, A; Acuña, MA; Zweier, M; Vincent, M; Steindl, K; Bachmann-Gagescu, R; Hackenberg, A; Abela, L; Plecko, B; Kroell-Seger, J; Baumer, A; Yamakawa, K; Inoue, Y; Asadollahi, R; Sticht, H; Zeilhofer, HU; Rauch, A Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
MOL MED. 2019; 25(1): 6-6. Doi: 10.1186/s10020-019-0073-6 [OPEN ACCESS]
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Bousquet, J; Ansotegui, IJ; Anto, JM; Arnavielhe, S; Bachert, C; Basagaña, X; Bédard, A; Bedbrook, A; Bonini, M; Bosnic-Anticevich, S; Braido, F; Cardona, V; Czarlewski, W; Cruz, AA; Demoly, P; De Vries, G; Dramburg, S; Mathieu-Dupas, E; Erhola, M; Fokkens, WJ; Fonseca, JA; Haahtela, T; Hellings, PW; Illario, M; Ivancevich, JC; Jormanainen, V; Klimek, L; Kuna, P; Kvedariene, V; Laune, D; Larenas-Linnemann, D; Lourenço, O; Onorato, GL; Matricardi, PM; Melén, E; Mullol, J; Papadopoulos, NG; Pfaar, O; Pham-Thi, N; Sheikh, A; Tan, R; To, T; Tomazic, PV; Toppila-Salmi, S; Tripodi, S; Wallace, D; Valiulis, A; van Eerd, M; Ventura, MT; Yorgancioglu, A; Zuberbier, T Mobile Technology in Allergic Rhinitis: Evolution in Management or Revolution in Health and Care?
J Allergy Clin Immunol Pract. 2019; 7(8):2511-2523 Doi: 10.1016/j.jaip.2019.07.044 [OPEN ACCESS]
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Grabner, GF; Fawzy, N; Pribasnig, MA; Trieb, M; Taschler, U; Holzer, M; Schweiger, M; Wolinski, H; Kolb, D; Horvath, A; Breinbauer, R; Rülicke, T; Rabl, R; Lass, A; Stadlbauer, V; Hutter-Paier, B; Stauber, RE; Fickert, P; Zechner, R; Marsche, G; Eichmann, TO; Zimmermann, R Metabolic disease and ABHD6 alter the circulating bis(monoacylglycerol)phosphate profile in mice and humans.
J Lipid Res. 2019; 60(5):1020-1031 Doi: 10.1194/jlr.M093351 [OPEN ACCESS]
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Jevnikar, Z; Östling, J; Ax, E; Calvén, J; Thörn, K; Israelsson, E; Öberg, L; Singhania, A; Lau, LCK; Wilson, SJ; Ward, JA; Chauhan, A; Sousa, AR; De, Meulder, B; Loza, MJ; Baribaud, F; Sterk, PJ; Chung, KF; Sun, K; Guo, Y; Adcock, IM; Payne, D; Dahlen, B; Chanez, P; Shaw, DE; Krug, N; Hohlfeld, JM; Sandström, T; Djukanovic, R; James, A; Hinks, TSC; Howarth, PH; Vaarala, O; van, Geest, M; Olsson, H, , Unbiased, Biomarkers, in, Prediction, of, Respiratory, Disease, Outcomes, study, group Epithelial IL-6 trans-signaling defines a new asthma phenotype with increased airway inflammation.
J Allergy Clin Immunol. 2019; 143(2):577-590 Doi: 10.1016/j.jaci.2018.05.026
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Kümpers, J; Fromme, M; Schneider, CV; Trautwein, C; Denk, H; Hamesch, K; Strnad, P Assessment of liver phenotype in adults with severe alpha-1 antitrypsin deficiency (Pi*ZZ genotype).
J Hepatol. 2019; 71(6):1272-1274 Doi: 10.1016/j.jhep.2019.08.011 [OPEN ACCESS]
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Matzhold, EM; Polin, H; Körmöczi, GF; Macher, S; Schönbacher, M; Wagner, T RHD del28Phe (DMW) encoded by a novel in-frame deletion resulting in reduced D antigen expression.
Transfusion. 2019; 59(9):3033-3034 Doi: 10.1111/trf.15459 (- Case Report) [OPEN ACCESS]
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Östling, J; van, Geest, M; Schofield, JPR; Jevnikar, Z; Wilson, S; Ward, J; Lutter, R; Shaw, DE; Bakke, PS; Caruso, M; Dahlen, SE; Fowler, SJ; Horváth, I; Krug, N; Montuschi, P; Sanak, M; Sandström, T; Sun, K; Pandis, I; Auffray, C; Sousa, AR; Guo, Y; Adcock, IM; Howarth, P; Chung, KF; Bigler, J; Sterk, PJ; Skipp, PJ; Djukanović, R; Vaarala, O, , U-BIOPRED, Study, Group IL-17-high asthma with features of a psoriasis immunophenotype.
J Allergy Clin Immunol. 2019; 144(5):1198-1213 Doi: 10.1016/j.jaci.2019.03.027
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Sanghera, C; Wong, LM; Panahi, M; Sintou, A; Hasham, M; Sattler, S Cardiac phenotype in mouse models of systemic autoimmunity.
Dis Model Mech. 2019; 12(3): Doi: 10.1242/dmm.036947 [OPEN ACCESS]
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Simpson, AJ; Hekking, PP; Shaw, DE; Fleming, LJ; Roberts, G; Riley, JH; Bates, S; Sousa, AR; Bansal, AT; Pandis, I; Sun, K; Bakke, PS; Caruso, M; Dahlén, B; Dahlén, SE; Horvath, I; Krug, N; Montuschi, P; Sandstrom, T; Singer, F; Adcock, IM; Wagers, SS; Djukanovic, R; Chung, KF; Sterk, PJ; Fowler, SJ, , U-BIOPRED, Study, Group Treatable traits in the European U-BIOPRED adult asthma cohorts.
Allergy. 2019; 74(2):406-411 Doi: 10.1111/all.13629 [OPEN ACCESS]
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2018

Aringer, I; Artinger, K; Kirsch, AH; Schabhüttl, C; Jandl, K; Bärnthaler, T; Mooslechner, AA; Herzog, SA; Uhlig, M; Kirsch, A; Frank, S; Banas, M; Pollheimer, M; Eller, P; Rosenkranz, AR; Heinemann, A; Eller, K Blockade of prostaglandin E2 receptor 4 ameliorates nephrotoxic serum nephritis.
Am J Physiol Renal Physiol. 2018; 315(6):F1869-F1880 Doi: 10.1152/ajprenal.00113.2018 [OPEN ACCESS]
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Brandsma, J; Goss, VM; Yang, X; Bakke, PS; Caruso, M; Chanez, P; Dahlén, SE; Fowler, SJ; Horvath, I; Krug, N; Montuschi, P; Sanak, M; Sandström, T; Shaw, DE; Chung, KF; Singer, F; Fleming, LJ; Sousa, AR; Pandis, I; Bansal, AT; Sterk, PJ; Djukanović, R; Postle, AD, , U-BIOPRED, Study, Group Lipid phenotyping of lung epithelial lining fluid in healthy human volunteers.
Metabolomics. 2018; 14(10):123 Doi: 10.1007/s11306-018-1412-2 [OPEN ACCESS]
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Day, F; Karaderi, T; Jones, MR; Meun, C; He, C; Drong, A; Kraft, P; Lin, N; Huang, H; Broer, L; Magi, R; Saxena, R; Laisk, T; Urbanek, M; Hayes, MG; Thorleifsson, G; Fernandez-Tajes, J; Mahajan, A; Mullin, BH; Stuckey, BGA; Spector, TD; Wilson, SG; Goodarzi, MO; Davis, L; Obermayer-Pietsch, B; Uitterlinden, AG; Anttila, V; Neale, BM; Jarvelin, MR; Fauser, B; Kowalska, I; Visser, JA; Andersen, M; Ong, K; Stener-Victorin, E; Ehrmann, D; Legro, RS; Salumets, A; McCarthy, MI; Morin-Papunen, L; Thorsteinsdottir, U; Stefansson, K; 23andMe Research Team; Styrkarsdottir, U; Perry, JRB; Dunaif, A; Laven, J; Franks, S; Lindgren, CM; Welt, CK Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria.
PLoS Genet. 2018; 14(12):e1007813-e1007813 Doi: 10.1371/journal.pgen.1007813 [OPEN ACCESS]
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de Sousa, G; Prinz, N; Becker, M; Dürr, R; Faller, U; Meraner, D; Heise, N; Engelmann, I; Bruckmayer, H; Wiemann, D; Fritsch, M; Stratmann, B; Holl, RW Diabetes Mellitus and Autoimmune Hepatitis: Demographical and Clinical Description of a Relatively Rare Phenotype.
Horm Metab Res. 2018; 50(7): 568-574. Doi: 10.1055/a-0631-2468 [OPEN ACCESS]
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Geoffroy, V; Stoetzel, C; Scheidecker, S; Schaefer, E; Perrault, I; Bär, S; Kröll, A; Delbarre, M; Antin, M; Leuvrey, AS; Henry, C; Blanché, H; Decker, E; Kloth, K; Klaus, G; Mache, C; Martin-Coignard, D; McGinn, S; Boland, A; Deleuze, JF; Friant, S; Saunier, S; Rozet, JM; Bergmann, C; Dollfus, H; Muller, J Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.
HUM MUTAT. 2018; 39(7): 983-992. Doi: 10.1002/humu.23539 [OPEN ACCESS]
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Hekking, PP; Loza, MJ; Pavlidis, S; de, Meulder, B; Lefaudeux, D; Baribaud, F; Auffray, C; Wagener, AH; Brinkman, P; Lutter, R; Bansal, AT; Sousa, AR; Bates, SA; Pandis, Y; Fleming, LJ; Shaw, DE; Fowler, SJ; Guo, Y; Meiser, A; Sun, K; Corfield, J; Howarth, PH; Bel, EH; Adcock, IM; Chung, KF; Djukanovic, R; Sterk, PJ, , U-BIOPRED, Study, Group, , U-BIOPRED, Study, Group Pathway discovery using transcriptomic profiles in adult-onset severe asthma.
J Allergy Clin Immunol. 2018; 141(4):1280-1290 Doi: 10.1016/j.jaci.2017.06.037
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Kindler, O; Quehenberger, F; Benesch, M; Seidel, MG The Iceberg Map of germline mutations in childhood cancer: focus on primary immunodeficiencies.
Curr Opin Pediatr. 2018; 30(6):855-863 Doi: 10.1097/MOP.0000000000000680
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Koentges, C; Pepin, ME; Müsse, C; Pfeil, K; Alvarez, SVV; Hoppe, N; Hoffmann, MM; Odening, KE; Sossalla, S; Zirlik, A; Hein, L; Bode, C; Wende, AR; Bugger, H Gene expression analysis to identify mechanisms underlying heart failure susceptibility in mice and humans.
Basic Res Cardiol. 2018; 113(1):8-8 Doi: 10.1007/s00395-017-0666-6 [OPEN ACCESS]
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Kovacs, G; Agusti, A; Barberà, JA; Celli, B; Criner, G; Humbert, M; Sin, DD; Voelkel, N; Olschewski, H Pulmonary Vascular Involvement in Chronic Obstructive Pulmonary Disease. Is There a Pulmonary Vascular Phenotype?
Am J Respir Crit Care Med. 2018; 198(8):1000-1011 Doi: 10.1164/rccm.201801-0095PP
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Kukolj, T; Trivanović, D; Djordjević, IO; Mojsilović, S; Krstić, J; Obradović, H; Janković, S; Santibanez, JF; Jauković, A; Bugarski, D Lipopolysaccharide can modify differentiation and immunomodulatory potential of periodontal ligament stem cells via ERK1,2 signaling.
J Cell Physiol. 2018; 233(1): 447-462. Doi: 10.1002/jcp.25904
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Lee, JJ; Wedow, R; Okbay, A; Kong, E; Maghzian, O; Zacher, M; Nguyen-Viet, TA; Bowers, P; Sidorenko, J; Karlsson Linnér, R; Fontana, MA; Kundu, T; Lee, C; Li, H; Li, R; Royer, R; Timshel, PN; Walters, RK; Willoughby, EA; Yengo, L; 23andMe Research Team; COGENT (Cognitive Genomics Consortium); Social Science Genetic Association Consortium; Alver, M; Bao, Y; Clark, DW; Day, FR; Furlotte, NA; Joshi, PK; Kemper, KE; Kleinman, A; Langenberg, C; Mägi, R; Trampush, JW; Verma, SS; Wu, Y; Lam, M; Zhao, JH; Zheng, Z; Boardman, JD; Campbell, H; Freese, J; Harris, KM; Hayward, C; Herd, P; Kumari, M; Lencz, T; Luan, J; Malhotra, AK; Metspalu, A; Milani, L; Ong, KK; Perry, JRB; Porteous, DJ; Ritchie, MD; Smart, MC; Smith, BH; Tung, JY; Wareham, NJ; Wilson, JF; Beauchamp, JP; Conley, DC; Esko, T; Lehrer, SF; Magnusson, PKE; Oskarsson, S; Pers, TH; Robinson, MR; Thom, K; Watson, C; Chabris, CF; Meyer, MN; Laibson, DI; Yang, J; Johannesson, M; Koellinger, PD; Turley, P; Visscher, PM; Benjamin, DJ; Cesarini, D Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
Nat Genet. 2018; 50(8):1112-1121 Doi: 10.1038/s41588-018-0147-3 [OPEN ACCESS]
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Marschik, PB; Lemcke, S; Einspieler, C; Zhang, D; Bölte, S; Townend, GS; Lauritsen, MB Early development in Rett syndrome - the benefits and difficulties of a birth cohort approach.
Dev Neurorehabil. 2018; 21(1):68-72 Doi: 10.1080/17518423.2017.1323970 [OPEN ACCESS]
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Winkels, H; Ehinger, E; Vassallo, M; Buscher, K; Dinh, HQ; Kobiyama, K; Hamers, AAJ; Cochain, C; Vafadarnejad, E; Saliba, AE; Zernecke, A; Pramod, AB; Ghosh, AK; Anto Michel, N; Hoppe, N; Hilgendorf, I; Zirlik, A; Hedrick, CC; Ley, K; Wolf, D Atlas of the Immune Cell Repertoire in Mouse Atherosclerosis Defined by Single-Cell RNA-Sequencing and Mass Cytometry.
Circ Res. 2018; 122(12):1675-1688 Doi: 10.1161/CIRCRESAHA.117.312513 [OPEN ACCESS]
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Xia, W; Pessentheiner, AR; Hofer, DC; Amor, M; Schreiber, R; Schoiswohl, G; Eichmann, TO; Walenta, E; Itariu, B; Prager, G; Hackl, H; Stulnig, T; Kratky, D; Rülicke, T; Bogner-Strauss, JG Loss of ABHD15 Impairs the Anti-lipolytic Action of Insulin by Altering PDE3B Stability and Contributes to Insulin Resistance.
Cell Rep. 2018; 23(7):1948-1961 Doi: 10.1016/j.celrep.2018.04.055 [OPEN ACCESS]
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2017

Chao, MP; Gentles, AJ; Chatterjee, S; Lan, F; Reinisch, A; Corces, MR; Xavy, S; Shen, J; Haag, D; Chanda, S; Sinha, R; Morganti, RM; Nishimura, T; Ameen, M; Wu, H; Wernig, M; Wu, JC; Majeti, R Human AML-iPSCs Reacquire Leukemic Properties after Differentiation and Model Clonal Variation of Disease.
Cell Stem Cell. 2017; 20(3): 329-344. Doi: 10.1016/j.stem.2016.11.018 [OPEN ACCESS]
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Dobsak, T; Heimel, P; Tangl, S; Schwarze, UY; Schett, G; Gruber, R Impaired periodontium and temporomandibular joints in tumour necrosis factor-α transgenic mice.
J Clin Periodontol. 2017; 44(12):1226-1235 Doi: 10.1111/jcpe.12799
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El Agha, E; Moiseenko, A; Kheirollahi, V; De Langhe, S; Crnkovic, S; Kwapiszewska, G; Szibor, M; Kosanovic, D; Schwind, F; Schermuly, RT; Henneke, I; MacKenzie, B; Quantius, J; Herold, S; Ntokou, A; Ahlbrecht, K; Braun, T; Morty, RE; Günther, A; Seeger, W; Bellusci, S Two-Way Conversion between Lipogenic and Myogenic Fibroblastic Phenotypes Marks the Progression and Resolution of Lung Fibrosis.
Cell Stem Cell. 2017; 20(2):261-273 Doi: 10.1016/j.stem.2016.10.004 [OPEN ACCESS]
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