Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Publikationen
Suchbegriffe: EXOME - , . Treffer: 19
2018
Bobbili, DR; Lal, D; May, P; Reinthaler, EM; Jabbari, K; Thiele, H; Nothnagel, M; Jurkowski, W; Feucht, M; Nürnberg, P; Lerche, H; Zimprich, F; Krause, R; Neubauer, BA; Reinthaler, EM; Zimprich, F; Feucht, M; Steinböck, H; Neophytou, B; Geldner, J; Gruber-Sedlmayr, U; Haberlandt, E; Ronen, GM; Altmüller, J; Lal, D; Nürnberg, P; Sander, T; Thiele, H; Krause, R; May, P; Balling, R; Lerche, H; Neubauer, BA; EUROEPINOMICS COGIE Consortium
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
Eur J Hum Genet. 2018; 26(2):258-264
Doi: 10.1038/s41431-017-0034-x
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2017
Qiu, YL; Gong, JY; Feng, JY; Wang, RX; Han, J; Liu, T; Lu, Y; Li, LT; Zhang, MH; Sheps, JA; Wang, NL; Yan, YY; Li, JQ; Chen, L; Borchers, CH; Sipos, B; Knisely, AS; Ling, V; Xing, QH; Wang, JS
Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.
Hepatology. 2017; 65(5):1655-1669
Doi: 10.1002/hep.29020
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2016
Sadovnick, AD; Traboulsee, AL; Bernales, CQ; Ross, JP; Forwell, AL; Yee, IM; Guillot-Noel, L; Fontaine, B; Cournu-Rebeix, I; Alcina, A; Fedetz, M; Izquierdo, G; Matesanz, F; Hilven, K; Dubois, B; Goris, A; Astobiza, I; Alloza, I; Antigüedad, A; Vandenbroeck, K; Akkad, DA; Aktas, O; Blaschke, P; Buttmann, M; Chan, A; Epplen, JT; Gerdes, LA; Kroner, A; Kubisch, C; Kümpfel, T; Lohse, P; Rieckmann, P; Zettl, UK; Zipp, F; Bertram, L; Lill, CM; Fernandez, O; Urbaneja, P; Leyva, L; Alvarez-Cermeño, JC; Arroyo, R; Garagorri, AM; García-Martínez, A; Villar, LM; Urcelay, E; Malhotra, S; Montalban, X; Comabella, M; Berger, T; Fazekas, F; Reindl, M; Schmied, MC; Zimprich, A; Vilariño-Güell, C
Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients.
G3 (Bethesda). 2016; 6(7):2073-2079
Doi: 10.1534/g3.116.030841
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2015
Alkhairy, OK; Perez-Becker, R; Driessen, GJ; Abolhassani, H; van Montfrans, J; Borte, S; Choo, S; Wang, N; Tesselaar, K; Fang, M; Bienemann, K; Boztug, K; Daneva, A; Mechinaud, F; Wiesel, T; Becker, C; Dückers, G; Siepermann, K; van Zelm, MC; Rezaei, N; van der Burg, M; Aghamohammadi, A; Seidel, MG; Niehues, T; Hammarström, L
Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency.
J Allergy Clin Immunol. 2015; 136(3):703-712
Doi: 10.1016/j.jaci.2015.02.022
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Heidari, A; Tongsook, C; Najafipour, R; Musante, L; Vasli, N; Garshasbi, M; Hu, H; Mittal, K; McNaughton, AJ; Sritharan, K; Hudson, M; Stehr, H; Talebi, S; Moradi, M; Darvish, H; Arshad Rafiq, M; Mozhdehipanah, H; Rashidinejad, A; Samiei, S; Ghadami, M; Windpassinger, C; Gillessen-Kaesbach, G; Tzschach, A; Ahmed, I; Mikhailov, A; Stavropoulos, DJ; Carter, MT; Keshavarz, S; Ayub, M; Najmabadi, H; Liu, X; Ropers, HH; Macheroux, P; Vincent, JB
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
Hum Mol Genet. 2015; 24(20):5697-5710
Doi: 10.1093/hmg/ddv286
(- Case Report)
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Kolanczyk, M; Krawitz, P; Hecht, J; Hupalowska, A; Miaczynska, M; Marschner, K; Schlack, C; Emmerich, D; Kobus, K; Kornak, U; Robinson, PN; Plecko, B; Grangl, G; Uhrig, S; Mundlos, S; Horn, D
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Eur J Hum Genet. 2015; 23(5):633-638
Doi: 10.1038/ejhg.2014.109
(- Case Report)
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Reinthaler, EM; Dejanovic, B; Lal, D; Semtner, M; Merkler, Y; Reinhold, A; Pittrich, DA; Hotzy, C; Feucht, M; Steinböck, H; Gruber-Sedlmayr, U; Ronen, GM; Neophytou, B; Geldner, J; Haberlandt, E; Muhle, H; Ikram, MA; van Duijn, CM; Uitterlinden, AG; Hofman, A; Altmüller, J; Kawalia, A; Toliat, MR; EuroEPINOMICS Consortium; Nürnberg, P; Lerche, H; Nothnagel, M; Thiele, H; Sander, T; Meier, JC; Schwarz, G; Neubauer, BA; Zimprich, F
Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
Ann Neurol. 2015; 77(6):972-986
Doi: 10.1002/ana.24395
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Shain, AH; Garrido, M; Botton, T; Talevich, E; Yeh, I; Sanborn, JZ; Chung, J; Wang, NJ; Kakavand, H; Mann, GJ; Thompson, JF; Wiesner, T; Roy, R; Olshen, AB; Gagnon, A; Gray, JW; Huh, N; Hur, JS; Busam, KJ; Scolyer, RA; Cho, RJ; Murali, R; Bastian, BC
Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway.
Nat Genet. 2015; 47(10): 1194-1199.
Doi: 10.1038/ng.3382
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2014
Basmanav, FB; Oprisoreanu, AM; Pasternack, SM; Thiele, H; Fritz, G; Wenzel, J; Größer, L; Wehner, M; Wolf, S; Fagerberg, C; Bygum, A; Altmüller, J; Rütten, A; Parmentier, L; El Shabrawi-Caelen, L; Hafner, C; Nürnberg, P; Kruse, R; Schoch, S; Hanneken, S; Betz, RC
Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
Am J Hum Genet. 2014; 94(1):135-143
Doi: 10.1016/j.ajhg.2013.12.003
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Bernkopf, M; Webersinke, G; Tongsook, C; Koyani, CN; Rafiq, MA; Ayaz, M; Müller, D; Enzinger, C; Aslam, M; Naeem, F; Schmidt, K; Gruber, K; Speicher, MR; Malle, E; Macheroux, P; Ayub, M; Vincent, JB; Windpassinger, C; Duba, HC
Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
Hum Mol Genet. 2014; 23(15):4015-4023
Doi: 10.1093/hmg/ddu115
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Haack, TB; Gorza, M; Danhauser, K; Mayr, JA; Haberberger, B; Wieland, T; Kremer, L; Strecker, V; Graf, E; Memari, Y; Ahting, U; Kopajtich, R; Wortmann, SB; Rodenburg, RJ; Kotzaeridou, U; Hoffmann, GF; Sperl, W; Wittig, I; Wilichowski, E; Schottmann, G; Schuelke, M; Plecko, B; Stephani, U; Strom, TM; Meitinger, T; Prokisch, H; Freisinger, P
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Mol Genet Metab. 2014; 111(3): 342-352.
Doi: 10.1016/j.ymgme.2013.12.010
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Heidary, M; Auer, M; Ulz, P; Heitzer, E; Petru, E; Gasch, C; Riethdorf, S; Mauermann, O; Lafer, I; Pristauz, G; Lax, S; Pantel, K; Geigl, JB; Speicher, MR
The dynamic range of circulating tumor DNA in metastatic breast cancer.
Breast Cancer Res. 2014; 16(4):421-421
Doi: 10.1186/s13058-014-0421-y
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Khan, MA; Rupp, VM; Orpinell, M; Hussain, MS; Altmüller, J; Steinmetz, MO; Enzinger, C; Thiele, H; Höhne, W; Nürnberg, G; Baig, SM; Ansar, M; Nürnberg, P; Vincent, JB; Speicher, MR; Gönczy, P; Windpassinger, C
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Hum Mol Genet. 2014; 23(22):5940-5949
Doi: 10.1093/hmg/ddu318
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Pabinger, S; Dander, A; Fischer, M; Snajder, R; Sperk, M; Efremova, M; Krabichler, B; Speicher, MR; Zschocke, J; Trajanoski, Z
A survey of tools for variant analysis of next-generation genome sequencing data.
Brief Bioinform. 2014; 15(2):256-278
Doi: 10.1093/bib/bbs086
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2013
Cullup, T; Kho, AL; Dionisi-Vici, C; Brandmeier, B; Smith, F; Urry, Z; Simpson, MA; Yau, S; Bertini, E; McClelland, V; Al-Owain, M; Koelker, S; Koerner, C; Hoffmann, GF; Wijburg, FA; ten Hoedt, AE; Rogers, RC; Manchester, D; Miyata, R; Hayashi, M; Said, E; Soler, D; Kroisel, PM; Windpassinger, C; Filloux, FM; Al-Kaabi, S; Hertecant, J; Del Campo, M; Buk, S; Bodi, I; Goebel, HH; Sewry, CA; Abbs, S; Mohammed, S; Josifova, D; Gautel, M; Jungbluth, H;
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
Nat Genet. 2013; 45(1):83-87
Doi: 10.1038/ng.2497
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Schmidts, M; Frank, V; Eisenberger, T; Al Turki, S; Bizet, AA; Antony, D; Rix, S; Decker, C; Bachmann, N; Bald, M; Vinke, T; Toenshoff, B; Di Donato, N; Neuhann, T; Hartley, JL; Maher, ER; Bogdanović, R; Peco-Antić, A; Mache, C; Hurles, ME; Joksić, I; Guć-Šćekić, M; Dobricic, J; Brankovic-Magic, M; Bolz, HJ; Pazour, GJ; Beales, PL; Scambler, PJ; Saunier, S; Mitchison, HM; Bergmann, C
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
Hum Mutat. 2013; 34(5):714-724
Doi: 10.1002/humu.22294
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2012
Beetz, C; Pieber, TR; Hertel, N; Schabhüttl, M; Fischer, C; Trajanoski, S; Graf, E; Keiner, S; Kurth, I; Wieland, T; Varga, RE; Timmerman, V; Reilly, MM; Strom, TM; Auer-Grumbach, M
Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V.
Am J Hum Genet. 2012; 91(1):139-145
Doi: 10.1016/j.ajhg.2012.05.007
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Haack, TB; Haberberger, B; Frisch, EM; Wieland, T; Iuso, A; Gorza, M; Strecker, V; Graf, E; Mayr, JA; Herberg, U; Hennermann, JB; Klopstock, T; Kuhn, KA; Ahting, U; Sperl, W; Wilichowski, E; Hoffmann, GF; Tesarova, M; Hansikova, H; Zeman, J; Plecko, B; Zeviani, M; Wittig, I; Strom, TM; Schuelke, M; Freisinger, P; Meitinger, T; Prokisch, H
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
J Med Genet. 2012; 49(4): 277-283.
Doi: 10.1136/jmedgenet-2012-100846
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2011
Bhat, V; Girimaji, SC; Mohan, G; Arvinda, HR; Singhmar, P; Duvvari, MR; Kumar, A
Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.
Clin Genet. 2011; 80(6): 532-540.
Doi: 10.1111/j.1399-0004.2011.01686.x
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