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Publikationen

Suchbegriffe: ALLELES - , . Treffer: 224

2020

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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2019

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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2018

Matzhold, EM; Drexler, C; Staudacher, E; Glock, B; Wagner, T A novel variant B allele at the ABO gene locus characterized by a duplication-based insertion of 27 nucleotides identified in an Iraqi male with a weak B subgroup phenotype.
Transfusion. 2018; 58(5):1318-1319 Doi: 10.1111/trf.14539 (- Case Report) [OPEN ACCESS]
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2017

Aung, T; Ozaki, M; Lee, MC; Schlötzer-Schrehardt, U; Thorleifsson, G; Mizoguchi, T; Igo, RP; Haripriya, A; Williams, SE; Astakhov, YS; Orr, AC; Burdon, KP; Nakano, S; Mori, K; Abu-Amero, K; Hauser, M; Li, Z; Prakadeeswari, G; Bailey, JNC; Cherecheanu, AP; Kang, JH; Nelson, S; Hayashi, K; Manabe, SI; Kazama, S; Zarnowski, T; Inoue, K; Irkec, M; Coca-Prados, M; Sugiyama, K; Järvelä, I; Schlottmann, P; Lerner, SF; Lamari, H; Nilgün, Y; Bikbov, M; Park, KH; Cha, SC; Yamashiro, K; Zenteno, JC; Jonas, JB; Kumar, RS; Perera, SA; Chan, ASY; Kobakhidze, N; George, R; Vijaya, L; Do, T; Edward, DP; de Juan Marcos, L; Pakravan, M; Moghimi, S; Ideta, R; Bach-Holm, D; Kappelgaard, P; Wirostko, B; Thomas, S; Gaston, D; Bedard, K; Greer, WL; Yang, Z; Chen, X; Huang, L; Sang, J; Jia, H; Jia, L; Qiao, C; Zhang, H; Liu, X; Zhao, B; Wang, YX; Xu, L; Leruez, S; Reynier, P; Chichua, G; Tabagari, S; Uebe, S; Zenkel, M; Berner, D; Mossböck, G; Weisschuh, N; Hoja, U; Welge-Luessen, UC; Mardin, C; Founti, P; Chatzikyriakidou, A; Pappas, T; Anastasopoulos, E; Lambropoulos, A; Ghosh, A; Shetty, R; Porporato, N; Saravanan, V; Venkatesh, R; Shivkumar, C; Kalpana, N; Sarangapani, S; Kanavi, MR; Beni, AN; Yazdani, S; Lashay, A; Naderifar, H; Khatibi, N; Fea, A; Lavia, C; Dallorto, L; Rolle, T; Frezzotti, P; Paoli, D; Salvi, E; Manunta, P; Mori, Y; Miyata, K; Higashide, T; Chihara, E; Ishiko, S; Yoshida, A; Yanagi, M; Kiuchi, Y; Ohashi, T; Sakurai, T; Sugimoto, T; Chuman, H; Aihara, M; Inatani, M; Miyake, M; Gotoh, N; Matsuda, F; Yoshimura, N; Ikeda, Y; Ueno, M; Sotozono, C; Jeoung, JW; Sagong, M; Park, KH; Ahn, J; Cruz-Aguilar, M; Ezzouhairi, SM; Rafei, A; Chong, YF; Ng, XY; Goh, SR; Chen, Y; Yong, VHK; Khan, MI; Olawoye, OO; Ashaye, AO; Ugbede, I; Onakoya, A; Kizor-Akaraiwe, N; Teekhasaenee, C; Suwan, Y; Supakontanasan, W; Okeke, S; Uche, NJ; Asimadu, I; Ayub, H; Akhtar, F; Kosior-Jarecka, E; Lukasik, U; Lischinsky, I; Castro, V; Grossmann, RP; Sunaric Megevand, G; Roy, S; Dervan, E; Silke, E; Rao, A; Sahay, P; Fornero, P; Cuello, O; Sivori, D; Zompa, T; Mills, RA; Souzeau, E; Mitchell, P; Wang, JJ; Hewitt, AW; Coote, M; Crowston, JG; Astakhov, SY; Akopov, EL; Emelyanov, A; Vysochinskaya, V; Kazakbaeva, G; Fayzrakhmanov, R; Al-Obeidan, SA; Owaidhah, O; Aljasim, LA; Chowbay, B; Foo, JN; Soh, RQ; Sim, KS; Xie, Z; Cheong, AWO; Mok, SQ; Soo, HM; Chen, XY; Peh, SQ; Heng, KK; Husain, R; Ho, SL; Hillmer, AM; Cheng, CY; Escudero-Domínguez, FA; González-Sarmiento, R; Martinon-Torres, F; Salas, A; Pathanapitoon, K; Hansapinyo, L; Wanichwecharugruang, B; Kitnarong, N; Sakuntabhai, A; Nguyn, HX; Nguyn, GTT; Nguyn, TV; Zenz, W; Binder, A; Klobassa, DS; Hibberd, ML; Davila, S; Herms, S; Nöthen, MM; Moebus, S; Rautenbach, RM; Ziskind, A; Carmichael, TR; Ramsay, M; Álvarez, L; García, M; González-Iglesias, H; Rodríguez-Calvo, PP; Fernández-Vega Cueto, L; Oguz, Ç; Tamcelik, N; Atalay, E; Batu, B; Aktas, D; Kasım, B; Wilson, MR; Coleman, AL; Liu, Y; Challa, P; Herndon, L; Kuchtey, RW; Kuchtey, J; Curtin, K; Chaya, CJ; Crandall, A; Zangwill, LM; Wong, TY; Nakano, M; Kinoshita, S; den Hollander, AI; Vesti, E; Fingert, JH; Lee, RK; Sit, AJ; Shingleton, BJ; Wang, N; Cusi, D; Qamar, R; Kraft, P; Pericak-Vance, MA; Raychaudhuri, S; Heegaard, S; Kivelä, T; Reis, A; Kruse, FE; Weinreb, RN; Pasquale, LR; Haines, JL; Thorsteinsdottir, U; Jonasson, F; Allingham, RR; Milea, D; Ritch, R; Kubota, T; Tashiro, K; Vithana, EN; Micheal, S; Topouzis, F; Craig, JE; Dubina, M; Sundaresan, P; Stefansson, K Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.
Nat Genet. 2017; 49(7):993-1004 Doi: 10.1038/ng.3875 [OPEN ACCESS]
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Jahic, A; Hinreiner, S; Emberger, W; Hehr, U; Zuchner, S; Beetz, C Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions.
Hum Mutat. 2017; 38(3):275-278 Doi: 10.1002/humu.23162
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Joshi, PK; Pirastu, N; Kentistou, KA; Fischer, K; Hofer, E; Schraut, KE; Clark, DW; Nutile, T; Barnes, CLK; Timmers, PRHJ; Shen, X; Gandin, I; McDaid, AF; Hansen, TF; Gordon, SD; Giulianini, F; Boutin, TS; Abdellaoui, A; Zhao, W; Medina-Gomez, C; Bartz, TM; Trompet, S; Lange, LA; Raffield, L; van der Spek, A; Galesloot, TE; Proitsi, P; Yanek, LR; Bielak, LF; Payton, A; Murgia, F; Concas, MP; Biino, G; Tajuddin, SM; Seppälä, I; Amin, N; Boerwinkle, E; Børglum, AD; Campbell, A; Demerath, EW; Demuth, I; Faul, JD; Ford, I; Gialluisi, A; Gögele, M; Graff, M; Hingorani, A; Hottenga, JJ; Hougaard, DM; Hurme, MA; Ikram, MA; Jylhä, M; Kuh, D; Ligthart, L; Lill, CM; Lindenberger, U; Lumley, T; Mägi, R; Marques-Vidal, P; Medland, SE; Milani, L; Nagy, R; Ollier, WER; Peyser, PA; Pramstaller, PP; Ridker, PM; Rivadeneira, F; Ruggiero, D; Saba, Y; Schmidt, R; Schmidt, H; Slagboom, PE; Smith, BH; Smith, JA; Sotoodehnia, N; Steinhagen-Thiessen, E; van Rooij, FJA; Verbeek, AL; Vermeulen, SH; Vollenweider, P; Wang, Y; Werge, T; Whitfield, JB; Zonderman, AB; Lehtimäki, T; Evans, MK; Pirastu, M; Fuchsberger, C; Bertram, L; Pendleton, N; Kardia, SLR; Ciullo, M; Becker, DM; Wong, A; Psaty, BM; van Duijn, CM; Wilson, JG; Jukema, JW; Kiemeney, L; Uitterlinden, AG; Franceschini, N; North, KE; Weir, DR; Metspalu, A; Boomsma, DI; Hayward, C; Chasman, D; Martin, NG; Sattar, N; Campbell, H; Esko, T; Kutalik, Z; Wilson, JF Genome-wide meta-analysis associates HLA-DQA1/DRB1 and LPA and lifestyle factors with human longevity.
Nat Commun. 2017; 8(1):910-910 Doi: 10.1038/s41467-017-00934-5 [OPEN ACCESS]
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Plecko, B; Zweier, M; Begemann, A; Mathis, D; Schmitt, B; Striano, P; Baethmann, M; Vari, MS; Beccaria, F; Zara, F; Crowther, LM; Joset, P; Sticht, H; Papuc, SM; Rauch, A Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.
J Med Genet. 2017; 54(12): 809-814. Doi: 10.1136/jmedgenet-2017-104521 (- Case Report)
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Renner, W; Langsenlehner, U; Krenn-Pilko, S; Eder, P; Langsenlehner, T BCL2 genotypes and prostate cancer survival.
Strahlenther Onkol. 2017; 193(6):466-471 Doi: 10.1007/s00066-017-1126-9 [OPEN ACCESS]
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Ulrich, S; Matzhold, E; Posch, U; Schlenke, P; Helmberg, W HLA-DRB3*02:61Q , a novel HLA-DRB3 allele identified in a volunteer bone marrow donor.
HLA. 2017; 90(3):186-187 Doi: 10.1111/tan.13061
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Woischke, C; Schaaf, CW; Yang, HM; Vieth, M; Veits, L; Geddert, H; Märkl, B; Stömmer, P; Schaeffer, DF; Frölich, M; Blum, H; Vosberg, S; Greif, PA; Jung, A; Kirchner, T; Horst, D In-depth mutational analyses of colorectal neuroendocrine carcinomas with adenoma or adenocarcinoma components.
Mod Pathol. 2017; 30(1): 95-103. Doi: 10.1038/modpathol.2016.150
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2016

Auer-Grumbach, M; Toegel, S; Schabhüttl, M; Weinmann, D; Chiari, C; Bennett, DLH; Beetz, C; Klein, D; Andersen, PM; Böhme, I; Fink-Puches, R; Gonzalez, M; Harms, MB; Motley, W; Reilly, MM; Renner, W; Rudnik-Schöneborn, S; Schlotter-Weigel, B; Themistocleous, AC; Weishaupt, JH; Ludolph, AC; Wieland, T; Tao, F; Abreu, L; Windhager, R; Zitzelsberger, M; Strom, TM; Walther, T; Scherer, SS; Züchner, S; Martini, R; Senderek, J Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
Am J Hum Genet. 2016; 99(3):607-623 Doi: 10.1016/j.ajhg.2016.07.008 [OPEN ACCESS]
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Beheshtian, M; Izadi, N; Kriegshauser, G; Kahrizi, K; Mehr, EP; Rostami, M; Hosseini, M; Azad, M; Montajabiniat, M; Kariminejad, A; Nemeth, S; Oberkanins, C; Najmabadi, H Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.
J Genet. 2016; 95(3): 667-674. Doi: 10.1007/s12041-016-0682-6 [OPEN ACCESS]
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Dever, DP; Bak, RO; Reinisch, A; Camarena, J; Washington, G; Nicolas, CE; Pavel-Dinu, M; Saxena, N; Wilkens, AB; Mantri, S; Uchida, N; Hendel, A; Narla, A; Majeti, R; Weinberg, KI; Porteus, MH CRISPR/Cas9 β-globin gene targeting in human haematopoietic stem cells.
Nature. 2016; 539(7629): 384-389. Doi: 10.1038/nature20134 [OPEN ACCESS]
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Grenkowitz, T; Kassner, U; Wühle-Demuth, M; Salewsky, B; Rosada, A; Zemojtel, T; Hopfenmüller, W; Isermann, B; Borucki, K; Heigl, F; Laufs, U; Wagner, S; Kleber, ME; Binner, P; März, W; Steinhagen-Thiessen, E; Demuth, I Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia.
Atherosclerosis. 2016; 253(19-20):88-93 Doi: 10.1016/j.atherosclerosis.2016.08.037
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Kopajtich, R; Murayama, K; Janecke, AR; Haack, TB; Breuer, M; Knisely, AS; Harting, I; Ohashi, T; Okazaki, Y; Watanabe, D; Tokuzawa, Y; Kotzaeridou, U; Kölker, S; Sauer, S; Carl, M; Straub, S; Entenmann, A; Gizewski, E; Feichtinger, RG; Mayr, JA; Lackner, K; Strom, TM; Meitinger, T; Müller, T; Ohtake, A; Hoffmann, GF; Prokisch, H; Staufner, C Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
Am J Hum Genet. 2016; 99(2):414-422 Doi: 10.1016/j.ajhg.2016.05.027 (- Case Report) [OPEN ACCESS]
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Matzhold, EM; Drexler, C; Wagner, T A novel ABO O allele caused by a large deletion covering two exons of the ABO gene identified in a Caucasian family showing discrepant ABO blood typing results.
Transfusion. 2016; 56(11):2739-2743 Doi: 10.1111/trf.13768
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Polin, H; Matzhold, EM; Schlenke, P; Gabriel, C; Danzer, M; Wagner, T RHD Tyr311Stop encoded by a novel nonsense mutation.
Transfusion. 2016; 56(9):2389-2390 Doi: 10.1111/trf.13702
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Polin, H; Pelc-Klopotowska, M; Danzer, M; Suessner, S; Gabriel, C; Wilflingseder, J; Żmudzin, A; Orzińska, A; Guz, K; Michalewska, B; Brojer, E Compound heterozygosity of two novel RHAG alleles leads to a considerable disruption of the Rh complex.
Transfusion. 2016; 56(4):950-955 Doi: 10.1111/trf.13476 (- Case Report)
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Renner, W; Jahrbacher, R; Marx-Neuhold, E; Tischler, S; Zulus, B A novel exonuclease (TaqMan) assay for rapid haptoglobin genotyping.
Clin Chem Lab Med. 2016; 54(5):781-783 Doi: 10.1515/cclm-2015-0586
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Seppälä, I; Kleber, ME; Bevan, S; Lyytikäinen, LP; Oksala, N; Hernesniemi, JA; Mäkelä, KM; Rothwell, PM; Sudlow, C; Dichgans, M; Mononen, N; Vlachopoulou, E; Sinisalo, J; Delgado, GE; Laaksonen, R; Koskinen, T; Scharnagl, H; Kähönen, M; Markus, HS; März, W; Lehtimäki, T Associations of functional alanine-glyoxylate aminotransferase 2 gene variants with atrial fibrillation and ischemic stroke.
Sci Rep. 2016; 6(5):23207-23207 Doi: 10.1038/srep23207 [OPEN ACCESS]
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Srivastava, K; Polin, H; Sheldon, SL; Wagner, FF; Grabmer, C; Gabriel, C; Denomme, GA; Flegel, WA The DAU cluster: a comparative analysis of 18 RHD alleles, some forming partial D antigens.
Transfusion. 2016; 56(10):2520-2531 Doi: 10.1111/trf.13739 [OPEN ACCESS]
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Ulrich, S; Posch, U; Helmberg, W; Schlenke, P HLA-A*68:02:11, a new HLA-A*68 allele identified during family HLA typing.
HLA. 2016; 88(4):197-198 Doi: 10.1111/tan.12875
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2015

Arbeithuber, B; Betancourt, AJ; Ebner, T; Tiemann-Boege, I Crossovers are associated with mutation and biased gene conversion at recombination hotspots.
Proc Natl Acad Sci U S A. 2015; 112(7):2109-2114 Doi: 10.1073/pnas.1416622112 [OPEN ACCESS]
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Bohanes, P; Yang, D; Loupakis, F; LaBonte, MJ; Gerger, A; Ning, Y; Lenz, C; Lenz, F; Wakatsuki, T; Zhang, W; Benhaim, L; El-Khoueiry, A; El-Khoueiry, R; Lenz, HJ Integrin genetic variants and stage-specific tumor recurrence in patients with stage II and III colon cancer.
Pharmacogenomics J. 2015; 15(3):226-234 Doi: 10.1038/tpj.2014.66
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Chauhan, G; Adams, HHH; Bis, JC; Weinstein, G; Yu, L; Töglhofer, AM; Smith, AV; van der Lee, SJ; Gottesman, RF; Thomson, R; Wang, J; Yang, Q; Niessen, WJ; Lopez, OL; Becker, JT; Phan, TG; Beare, RJ; Arfanakis, K; Fleischman, D; Vernooij, MW; Mazoyer, B; Schmidt, H; Srikanth, V; Knopman, DS; Jack, CR; Amouyel, P; Hofman, A; DeCarli, C; Tzourio, C; van Duijn, CM; Bennett, DA; Schmidt, R; Longstreth, WT; Mosley, TH; Fornage, M; Launer, LJ; Seshadri, S; Ikram, MA; Debette, S Association of Alzheimer's disease GWAS loci with MRI markers of brain aging.
Neurobiol Aging. 2015; 36(4):1765.e7-1761765 Doi: 10.1016/j.neurobiolaging.2014.12.028 [OPEN ACCESS]
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Do, R; Stitziel, NO; Won, HH; Jørgensen, AB; Duga, S; Angelica Merlini, P; Kiezun, A; Farrall, M; Goel, A; Zuk, O; Guella, I; Asselta, R; Lange, LA; Peloso, GM; Auer, PL; NHLBI Exome Sequencing Project; Girelli, D; Martinelli, N; Farlow, DN; DePristo, MA; Roberts, R; Stewart, AF; Saleheen, D; Danesh, J; Epstein, SE; Sivapalaratnam, S; Hovingh, GK; Kastelein, JJ; Samani, NJ; Schunkert, H; Erdmann, J; Shah, SH; Kraus, WE; Davies, R; Nikpay, M; Johansen, CT; Wang, J; Hegele, RA; Hechter, E; Marz, W; Kleber, ME; Huang, J; Johnson, AD; Li, M; Burke, GL; Gross, M; Liu, Y; Assimes, TL; Heiss, G; Lange, EM; Folsom, AR; Taylor, HA; Olivieri, O; Hamsten, A; Clarke, R; Reilly, DF; Yin, W; Rivas, MA; Donnelly, P; Rossouw, JE; Psaty, BM; Herrington, DM; Wilson, JG; Rich, SS; Bamshad, MJ; Tracy, RP; Cupples, LA; Rader, DJ; Reilly, MP; Spertus, JA; Cresci, S; Hartiala, J; Tang, WH; Hazen, SL; Allayee, H; Reiner, AP; Carlson, CS; Kooperberg, C; Jackson, RD; Boerwinkle, E; Lander, ES; Schwartz, SM; Siscovick, DS; McPherson, R; Tybjaerg-Hansen, A; Abecasis, GR; Watkins, H; Nickerson, DA; Ardissino, D; Sunyaev, SR; O'Donnell, CJ; Altshuler, D; Gabriel, S; Kathiresan, S Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
NATURE. 2015; 518(7537): 102-106. Doi: 10.1038/nature13917 [OPEN ACCESS]
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Ewald, L; Beate, LW; Stephanie, S; Wilfried, R; Yosuf, el-S Analysis of a Functional IL-6 Gene Polymorphism in HLAB27 Associated and Intermediate Uveitis Gives New Insight in Disease Pathogenesis and Commonality with Other Autoimmune Diseases.
J Immunol Res. 2015; 2015(7):174062-174062 Doi: 10.1155/2015/174062 [OPEN ACCESS]
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Kassner, U; Salewsky, B; Wühle-Demuth, M; Szijarto, IA; Grenkowitz, T; Binner, P; März, W; Steinhagen-Thiessen, E; Demuth, I Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants.
Eur J Hum Genet. 2015; 23(9):1259-1261 Doi: 10.1038/ejhg.2014.295 (- Case Report) [OPEN ACCESS]
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Lindner, E; Weger, M; Ardjomand, N; Renner, W; El-Shabrawi, Y Associations of Independent IL2RA Gene Variants with Intermediate Uveitis.
PLoS One. 2015; 10(7):e0130737-e0130737 Doi: 10.1371/journal.pone.0130737 [OPEN ACCESS]
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Mangge, H; Baumgartner, BG; Zelzer, S; Prüller, F; Schnedl, WJ; Reininghaus, EZ; Haybaeck, J; Lackner, C; Stauber, R; Aigner, E; Weghuber, D Patatin-like phospholipase 3 (rs738409) gene polymorphism is associated with increased liver enzymes in obese adolescents and metabolic syndrome in all ages.
Aliment Pharmacol Ther. 2015; 42(1):99-105 Doi: 10.1111/apt.13232 [OPEN ACCESS]
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Stättermayer, AF; Traussnigg, S; Dienes, HP; Aigner, E; Stauber, R; Lackner, K; Hofer, H; Stift, J; Wrba, F; Stadlmayr, A; Datz, C; Strasser, M; Maieron, A; Trauner, M; Ferenci, P Hepatic steatosis in Wilson disease--Role of copper and PNPLA3 mutations.
J Hepatol. 2015; 63(1):156-163 Doi: 10.1016/j.jhep.2015.01.034
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UK10K Consortium; Walter, K; Min, JL; Huang, J; Crooks, L; Memari, Y; McCarthy, S; Perry, JR; Xu, C; Futema, M; Lawson, D; Iotchkova, V; Schiffels, S; Hendricks, AE; Danecek, P; Li, R; Floyd, J; Wain, LV; Barroso, I; Humphries, SE; Hurles, ME; Zeggini, E; Barrett, JC; Plagnol, V; Richards, JB; Greenwood, CM; Timpson, NJ; Durbin, R; Soranzo, N The UK10K project identifies rare variants in health and disease.
Nature. 2015; 526(7571):82-90 Doi: 10.1038/nature14962 [OPEN ACCESS]
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Wiesner, T; Lee, W; Obenauf, AC; Ran, L; Murali, R; Zhang, QF; Wong, EW; Hu, W; Scott, SN; Shah, RH; Landa, I; Button, J; Lailler, N; Sboner, A; Gao, D; Murphy, DA; Cao, Z; Shukla, S; Hollmann, TJ; Wang, L; Borsu, L; Merghoub, T; Schwartz, GK; Postow, MA; Ariyan, CE; Fagin, JA; Zheng, D; Ladanyi, M; Busam, KJ; Berger, MF; Chen, Y; Chi, P Alternative transcription initiation leads to expression of a novel ALK isoform in cancer.
Nature. 2015; 526(7573):453-457 Doi: 10.1038/nature15258 [OPEN ACCESS]
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2014

Absenger, G; Benhaim, L; Szkandera, J; Zhang, W; Yang, D; Labonte, MJ; Pichler, M; Stotz, M; Samonigg, H; Renner, W; Gerger, A; Lenz, HJ The cyclin D1 (CCND1) rs9344 G>A polymorphism predicts clinical outcome in colon cancer patients treated with adjuvant 5-FU-based chemotherapy.
Pharmacogenomics J. 2014; 14(2):130-134 Doi: 10.1038/tpj.2013.15
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Friedrich, K; Wannhoff, A; Kattner, S; Brune, M; Hov, JR; Weiss, KH; Antoni, C; Dollinger, M; Neumann-Haefelin, C; Seufferlein, T; Schemmer, P; Schirmacher, P; Stremmel, W; Gotthardt, DN PNPLA3 in end-stage liver disease: alcohol consumption, hepatocellular carcinoma development, and transplantation-free survival.
J Gastroenterol Hepatol. 2014; 29(7):1477-1484 Doi: 10.1111/jgh.12540
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Holmes, MV; Exeter, HJ; Folkersen, L; Nelson, CP; Guardiola, M; Cooper, JA; Sofat, R; Boekholdt, SM; Khaw, KT; Li, KW; Smith, AJ; Van't Hooft, F; Eriksson, P; Franco-Cereceda, A; Asselbergs, FW; Boer, JM; Onland-Moret, NC; Hofker, M; Erdmann, J; Kivimaki, M; Kumari, M; Reiner, AP; Keating, BJ; Humphries, SE; Hingorani, AD; Mallat, Z; Samani, NJ; Talmud, PJ; CARDIoGRAM Consortium Novel genetic approach to investigate the role of plasma secretory phospholipase A2 (sPLA2)-V isoenzyme in coronary heart disease: modified Mendelian randomization analysis using PLA2G5 expression levels.
Circ Cardiovasc Genet. 2014; 7(2):144-150 Doi: 10.1161/CIRCGENETICS.113.000271 [OPEN ACCESS]
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Ning, Y; Gerger, A; Zhang, W; Hanna, DL; Yang, D; Winder, T; Wakatsuki, T; Labonte, MJ; Stintzing, S; Volz, N; Sunakawa, Y; Stremitzer, S; El-Khoueiry, R; Lenz, HJ Plastin polymorphisms predict gender- and stage-specific colon cancer recurrence after adjuvant chemotherapy.
Mol Cancer Ther. 2014; 13(2):528-539 Doi: 10.1158/1535-7163.MCT-13-0646 [OPEN ACCESS]
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Páez, D; Gerger, A; Zhang, W; Yang, D; Labonte, MJ; Benhanim, L; Kahn, M; Lenz, F; Lenz, C; Ning, Y; Wakatsuki, T; Loupakis, F; Lenz, HJ Association of common gene variants in the WNT/β-catenin pathway with colon cancer recurrence.
Pharmacogenomics J. 2014; 14(2):142-150 Doi: 10.1038/tpj.2013.20
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Pereira, TV; Kimura, L; Suwazono, Y; Nakagawa, H; Daimon, M; Oizumi, T; Kayama, T; Kato, T; Li, L; Chen, S; Gu, D; Renner, W; März, W; Yamada, Y; Bagos, PG; Mingroni-Netto, RC Multivariate meta-analysis of the association of G-protein beta 3 gene (GNB3) haplotypes with cardiovascular phenotypes.
Mol Biol Rep. 2014; 41(5):3113-3125 Doi: 10.1007/s11033-014-3171-0 [OPEN ACCESS]
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Plecko, B; Paul, K; Mills, P; Clayton, P; Paschke, E; Maier, O; Hasselmann, O; Schmiedel, G; Kanz, S; Connolly, M; Wolf, N; Struys, E; Stockler, S; Abela, L; Hofer, D Pyridoxine responsiveness in novel mutations of the PNPO gene.
Neurology. 2014; 82(16):1425-1433 Doi: 10.1212/WNL.0000000000000344 [OPEN ACCESS]
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Polin, H; Danzer, M; Reiter, A; Brisner, M; Gaszner, W; Weinberger, J; Gabriel, C MN typing discrepancies based on GYPA-B-A hybrid.
Vox Sang. 2014; 107(4): 393-398. Doi: 10.1111/vox.12168
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Polin, H; Gaszner, W; Suessner, S; Danzer, M; Gabriel, C Identification of a novel Kmod -1 allele encoded by 977C>T (Pro326Leu).
Transfusion. 2014; 54(8): 2130-2131. Doi: 10.1111/trf.12559
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Reinthaler, E; Machetanz, G; Hotzy, C; Reindl, M; Fazekas, F; Kristoferitsch, W; Berger, T; Schmied, C; Zimprich, A No evidence for a role of rare CYP27B1 variants in Austrian multiple sclerosis patients.
MULT SCLER J. 2014; 20(3): 391-392. Doi: 10.1177/1352458513498130
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Rominger, C; Weiss, EM; Nagl, S; Niederstätter, H; Parson, W; Papousek, I Carriers of the COMT Met/Met allele have higher degrees of hypnotizability, provided that they have good attentional control: a case of gene-trait interaction.
Int J Clin Exp Hypn. 2014; 62(4):455-482 Doi: 10.1080/00207144.2014.931177
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Stättermayer, AF; Rutter, K; Beinhardt, S; Wrba, F; Scherzer, TM; Strasser, M; Hofer, H; Steindl-Munda, P; Trauner, M; Ferenci, P Role of FDFT1 polymorphism for fibrosis progression in patients with chronic hepatitis C.
Liver Int. 2014; 34(3): 388-395. Doi: 10.1111/liv.12269
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Stückler, C; Danzer, M; Raml, E; Steitzer, H; Gabriel, C Characterization of a novel HLA-A*33 allele, A*33:47, using next-generation sequencing.
Tissue Antigens. 2014; 84(4):414-415 Doi: 10.1111/tan.12386
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Thurner, EM; Krenn-Pilko, S; Langsenlehner, U; Renner, W; Gerger, A; Kapp, KS; Langsenlehner, T Association of genetic variants in apoptosis genes FAS and FASL with radiation-induced late toxicity after prostate cancer radiotherapy.
Strahlenther Onkol. 2014; 190(3):304-309 Doi: 10.1007/s00066-013-0485-0
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2013

Dastani, Z; Johnson, T; Kronenberg, F; Nelson, CP; Assimes, TL; März, W; CARDIoGRAM Consortium; ADIPOGen Consortium; Richards, JB The shared allelic architecture of adiponectin levels and coronary artery disease.
Atherosclerosis. 2013; 229(1): 145-148. Doi: 10.1016/j.atherosclerosis.2013.03.034 [OPEN ACCESS]
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Friedrich, K; Rupp, C; Hov, JR; Steinebrunner, N; Weiss, KH; Stiehl, A; Brune, M; Schaefer, PK; Schemmer, P; Sauer, P; Schirmacher, P; Runz, H; Karlsen, TH; Stremmel, W; Gotthardt, DN A frequent PNPLA3 variant is a sex specific disease modifier in PSC patients with bile duct stenosis.
PLoS One. 2013; 8(3):e58734-e58734 Doi: 10.1371/journal.pone.0058734 [OPEN ACCESS]
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Lieb, W; Jansen, H; Loley, C; Pencina, MJ; Nelson, CP; Newton-Cheh, C; Kathiresan, S; Reilly, MP; Assimes, TL; Boerwinkle, E; Hall, AS; Hengstenberg, C; Laaksonen, R; McPherson, R; Thorsteinsdottir, U; Ziegler, A; Peters, A; Thompson, JR; König, IR; Erdmann, J; Samani, NJ; Vasan, RS; Schunkert, H; CARDIoGRAM; Assimes, TL; Deloukas, P; Erdmann, J; Holm, H; Kathiresan, S; König, IR; McPherson, R; Reilly, MP; Roberts, R; Samani, NJ; Schunkert, H; Stewart, AF Genetic predisposition to higher blood pressure increases coronary artery disease risk.
Hypertension. 2013; 61(5):995-1001 Doi: 10.1161/HYPERTENSIONAHA.111.00275 [OPEN ACCESS]
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