Works matching AU Nürnberg, Peter

Results: 296
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    Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

    Published in:
    2011
    By:
    • Dafinger, Claudia;
    • Liebau, Max Christoph;
    • Elsayed, Solaf Mohamed;
    • Hellenbroich, Yorck;
    • Boltshauser, Eugen;
    • Korenke, Georg Christoph;
    • Fabretti, Francesca;
    • Janecke, Andreas Robert;
    • Ebermann, Inga;
    • Nürnberg, Gudrun;
    • Nürnberg, Peter;
    • Zentgraf, Hanswalter;
    • Koerber, Friederike;
    • Addicks, Klaus;
    • Elsobky, Ezzat;
    • Benzing, Thomas;
    • Schermer, Bernhard;
    • Bolz, Hanno Jörn;
    • Nürnberg, Gudrun;
    • Nürnberg, Peter
    Publication type:
    journal article
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    The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.

    Published in:
    Human Mutation, 2020, v. 41, n. 3, p. 591, doi. 10.1002/humu.23964
    By:
    • Yigit, Gökhan;
    • Saida, Ken;
    • DeMarzo, Danielle;
    • Miyake, Noriko;
    • Fujita, Atsushi;
    • Yang Tan, Tiong;
    • White, Susan M.;
    • Wadley, Alexandrea;
    • Toliat, Mohammad R.;
    • Motameny, Susanne;
    • Franitza, Marek;
    • Stutterd, Chloe A.;
    • Chong, Pin F.;
    • Kira, Ryutaro;
    • Sengoku, Toru;
    • Ogata, Kazuhiro;
    • Guillen Sacoto, Maria J.;
    • Fresen, Christine;
    • Beck, Bodo B.;
    • Nürnberg, Peter
    Publication type:
    Article
    6

    Gain‐of‐function <italic>HCN2</italic> variants in genetic epilepsy.

    Published in:
    Human Mutation, 2018, v. 39, n. 2, p. 202, doi. 10.1002/humu.23357
    By:
    • Li, Melody;
    • Maljevic, Snezana;
    • Phillips, A. Marie;
    • Petrovski, Slave;
    • Hildebrand, Michael S.;
    • Burgess, Rosemary;
    • Mount, Therese;
    • Zara, Federico;
    • Striano, Pasquale;
    • Schubert, Julian;
    • Thiele, Holger;
    • Nürnberg, Peter;
    • Wong, Michael;
    • Weisenberg, Judith L.;
    • Thio, Liu Lin;
    • Lerche, Holger;
    • Scheffer, Ingrid E.;
    • Berkovic, Samuel F.;
    • Petrou, Steven;
    • Reid, Christopher A.
    Publication type:
    Article
    7

    The role of de novo mutations in the development of amyotrophic lateral sclerosis.

    Published in:
    Human Mutation, 2017, v. 38, n. 11, p. 1534, doi. 10.1002/humu.23295
    By:
    • Doormaal, Perry T.C.;
    • Ticozzi, Nicola;
    • Weishaupt, Jochen H.;
    • Kenna, Kevin;
    • Diekstra, Frank P.;
    • Verde, Federico;
    • Andersen, Peter M.;
    • Dekker, Annelot M.;
    • Tiloca, Cinzia;
    • Marroquin, Nicolai;
    • Overste, Daniel J.;
    • Pensato, Viviana;
    • Nürnberg, Peter;
    • Pulit, Sara L.;
    • Schellevis, Raymond D.;
    • Calini, Daniela;
    • Altmüller, Janine;
    • Francioli, Laurent C.;
    • Muller, Bernard;
    • Castellotti, Barbara
    Publication type:
    Article
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    Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

    Published in:
    Human Mutation, 2014, v. 35, n. 12, p. 1542, doi. 10.1002/humu.22722
    By:
    • Morin, Gilles;
    • Bruechle, Nadina Ortiz;
    • Singh, Amrathlal Rabbind;
    • Knopp, Cordula;
    • Jedraszak, Guillaume;
    • Elbracht, Miriam;
    • Brémond‐Gignac, Dominique;
    • Hartmann, Kathi;
    • Sevestre, Henri;
    • Deutz, Peter;
    • Hérent, Didier;
    • Nürnberg, Peter;
    • Roméo, Bernard;
    • Konrad, Kerstin;
    • Mathieu‐Dramard, Michèle;
    • Oldenburg, Johannes;
    • Bourges‐Petit, Elisabeth;
    • Shen, Yuequan;
    • Zerres, Klaus;
    • Ouadid‐Ahidouch, Halima
    Publication type:
    Article
    11

    Mutation of POC1 B in a Severe Syndromic Retinal Ciliopathy.

    Published in:
    Human Mutation, 2014, v. 35, n. 10, p. 1153, doi. 10.1002/humu.22618
    By:
    • Beck, Bodo B.;
    • Phillips, Jennifer B.;
    • Bartram, Malte P.;
    • Wegner, Jeremy;
    • Thoenes, Michaela;
    • Pannes, Andrea;
    • Sampson, Josephina;
    • Heller, Raoul;
    • Göbel, Heike;
    • Koerber, Friederike;
    • Neugebauer, Antje;
    • Hedergott, Andrea;
    • Nürnberg, Gudrun;
    • Nürnberg, Peter;
    • Thiele, Holger;
    • Altmüller, Janine;
    • Toliat, Mohammad R.;
    • Staubach, Simon;
    • Boycott, Kym M.;
    • Valente, Enza Maria
    Publication type:
    Article
    12

    Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

    Published in:
    Human Mutation, 2014, v. 35, n. 10, p. 1121, doi. 10.1002/humu.22621
    By:
    • Morin, Gilles;
    • Bruechle, Nadina Ortiz;
    • Singh, Amrathlal Rabbind;
    • Knopp, Cordula;
    • Jedraszak, Guillaume;
    • Elbracht, Miriam;
    • Brémond‐Gignac, Dominique;
    • Hartmann, Kathi;
    • Sevestre, Henri;
    • Deutz, Peter;
    • Hérent, Didier;
    • Nürnberg, Peter;
    • Roméo, Bernard;
    • Konrad, Kerstin;
    • Mathieu‐Dramard, Michèle;
    • Oldenburg, Johannes;
    • Bourges‐Petit, Elisabeth;
    • Shen, Yuequan;
    • Zerres, Klaus;
    • Ouadid‐Ahidouch, Halima
    Publication type:
    Article
    13

    Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia.

    Published in:
    Human Mutation, 2013, v. 34, n. 6, p. 860, doi. 10.1002/humu.22309
    By:
    • Varga, Rita‐Eva;
    • Schüle, Rebecca;
    • Fadel, Hicham;
    • Valenzuela, Irene;
    • Speziani, Fiorella;
    • Gonzalez, Michael;
    • Rudenskaia, Galina;
    • Nürnberg, Gudrun;
    • Thiele, Holger;
    • Altmüller, Janine;
    • Alvarez, Victoria;
    • Gamez, Josep;
    • Garbern, James Y.;
    • Nürnberg, Peter;
    • Zuchner, Stephan;
    • Beetz, Christian
    Publication type:
    Article
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    Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.

    Published in:
    Human Mutation, 2010, v. 31, n. 9, p. 1059, doi. 10.1002/humu.21315
    By:
    • Dutrannoy, Véronique;
    • Demuth, Ilja;
    • Baumann, Ulrich;
    • Schindler, Detlev;
    • Konrat, Kateryna;
    • Neitzel, Heidemarie;
    • Gillessen-Kaesbach, Gabriele;
    • Radszewski, Janina;
    • Rothe, Susanne;
    • Schellenberger, Mario T.;
    • Nürnberg, Gudrun;
    • Nürnberg, Peter;
    • Teik, Keng Wee;
    • Nallusamy, Revathy;
    • Reis, André;
    • Sperling, Karl;
    • Digweed, Martin;
    • Varon, Raymonda
    Publication type:
    Article
    18

    Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.

    Published in:
    Human Mutation, 2009, v. 30, n. 10, p. 1378, doi. 10.1002/humu.21079
    By:
    • Iseri, Sibel Ugur;
    • Osborne, Robert J.;
    • Farrall, Martin;
    • Wyatt, Alexander William;
    • Mirza, Ghazala;
    • Nürnberg, Gudrun;
    • Kluck, Christian;
    • Herbert, Helen;
    • Martin, Angela;
    • Hussain, Muhammad Sajid;
    • Collin, J. Richard O.;
    • Lathrop, Mark;
    • Nürnberg, Peter;
    • Ragoussis, Jiannis;
    • Ragge, Nicola K.
    Publication type:
    Article
    19

    A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.

    Published in:
    Human Mutation, 2009, v. 30, n. 4, p. 641, doi. 10.1002/humu.20916
    By:
    • Chung, Boi-Dinh;
    • Kayserili, Hülya;
    • Ai, Minrong;
    • Freudenberg, Jan;
    • Üzümcü, Abdullah;
    • Uyguner, Oya;
    • Bartels, Cynthia F.;
    • Höning, Stefan;
    • Ramirez, Alfredo;
    • Hanisch, Franz-Georg;
    • Nürnberg, Gudrun;
    • Nürnberg, Peter;
    • Warman, Matthew L.;
    • Wollnik, Bernd;
    • Kubisch, Christian;
    • Netzer, Christian
    Publication type:
    Article
    20

    6-mercaptopurine and 9-(2-phosphonyl-methoxyethyl) adenine (PMEA) transport altered by two missense mutations in the drug transporter gene ABCC4.

    Published in:
    Human Mutation, 2008, v. 29, n. 5, p. 659, doi. 10.1002/humu.20694
    By:
    • Janke, Daniel;
    • Mehralivand, Sherif;
    • Strand, Dennis;
    • Gödtel-Armbrust, Ute;
    • Habermeier, Alice;
    • Gradhand, Ulrike;
    • Fischer, Christine;
    • Toliat, Mohammad R.;
    • Fritz, Peter;
    • Zanger, Ulrich M.;
    • Schwab, Matthias;
    • Fromm, Martin F.;
    • Nürnberg, Peter;
    • Wojnowski, Leszek;
    • Closs, Ellen I.;
    • Lang, Thomas
    Publication type:
    Article
    21

    Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.

    Published in:
    Human Mutation, 2008, v. 29, n. 1, p. 45, doi. 10.1002/humu.20614
    By:
    • Frank, Valeska;
    • den Hollander, Anneke I.;
    • Brüchle, Nadina Ortiz;
    • Zonneveld, Marijke N.;
    • Nürnberg, Gudrun;
    • Becker, Christian;
    • Du Bois, Gabriele;
    • Kendziorra, Heide;
    • Roosing, Susanne;
    • Senderek, Jan;
    • Nürnberg, Peter;
    • Cremers, Frans P.M.;
    • Zerres, Klaus;
    • Bergmann, Carsten
    Publication type:
    Article
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    Olaparib Addition to Maintenance Bevacizumab Therapy in Ovarian Carcinoma With BRCA-Like Genomic Aberrations.

    Published in:
    JAMA Network Open, 2024, v. 7, n. 4, p. e245552, doi. 10.1001/jamanetworkopen.2024.5552
    By:
    • Schouten, Philip C.;
    • Schmidt, Sandra;
    • Becker, Kerstin;
    • Thiele, Holger;
    • Nürnberg, Peter;
    • Richters, Lisa;
    • Ernst, Corinna;
    • Treilleux, Isabelle;
    • Medioni, Jacques;
    • Heitz, Florian;
    • Pisano, Carmela;
    • Garcia, Yolanda;
    • Petru, Edgar;
    • Hietanen, Sakari;
    • Colombo, Nicoletta;
    • Vergote, Ignace;
    • Nagao, Shoji;
    • Linn, Sabine C.;
    • Pujade-Lauraine, Eric;
    • Ray-Coquard, Isabelle
    Publication type:
    Article
    30

    A Novel OPA3 Mutation Revealed by Exome Sequencing.

    Published in:
    JAMA Neurology, 2013, v. 70, n. 6, p. 783, doi. 10.1001/jamaneurol.2013.1174
    By:
    • Arif, Beenish;
    • Kumar, Kishore R.;
    • Seibler, Philip;
    • Vulinovic, Franca;
    • Fatima, Amara;
    • Winkler, Susen;
    • Nürnberg, Gudrun;
    • Thiele, Holger;
    • Nürnberg, Peter;
    • Jamil, Ahmad Zeeshan;
    • Brüggemann, Anne;
    • Abbas, Ghazanfar;
    • Klein, Christine;
    • Naz, Sadaf;
    • Lohmann, Katja
    Publication type:
    Article
    31
    32

    Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry.

    Published in:
    Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-35852-z
    By:
    • Bustos, Bernabé I.;
    • Pérez-Palma, Eduardo;
    • Buch, Stephan;
    • Azócar, Lorena;
    • Riveras, Eleodoro;
    • Ugarte, Giorgia D.;
    • Toliat, Mohammad;
    • Nürnberg, Peter;
    • Lieb, Wolfgang;
    • Franke, Andre;
    • Hinz, Sebastian;
    • Burmeister, Greta;
    • von Schönfels, Witigo;
    • Schafmayer, Clemens;
    • Völzke, Henry;
    • Völker, Uwe;
    • Homuth, Georg;
    • Lerch, Markus M.;
    • Santos, José Luis;
    • Puschel, Klaus
    Publication type:
    Article
    33
    34

    A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.

    Published in:
    Genes, 2021, v. 12, n. 10, p. 1494, doi. 10.3390/genes12101494
    By:
    • Waseem, Syeda Seema;
    • Moawia, Abubakar;
    • Budde, Birgit;
    • Tariq, Muhammad;
    • Khan, Ayaz;
    • Ali, Zafar;
    • Khan, Sheraz;
    • Iqbal, Maria;
    • Malik, Naveed Altaf;
    • Haque, Saif ul;
    • Altmüller, Janine;
    • Thiele, Holger;
    • Hussain, Muhammad Sajid;
    • Cirak, Sebahattin;
    • Baig, Shahid Mahmood;
    • Nürnberg, Peter
    Publication type:
    Article
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    Exome sequencing in large, multiplex bipolar disorder families from Cuba.

    Published in:
    PLoS ONE, 2018, v. 13, n. 10, p. 1, doi. 10.1371/journal.pone.0205895
    By:
    • Maaser, Anna;
    • Forstner, Andreas J.;
    • Strohmaier, Jana;
    • Hecker, Julian;
    • Ludwig, Kerstin U.;
    • Sivalingam, Sugirthan;
    • Streit, Fabian;
    • Degenhardt, Franziska;
    • Witt, Stephanie H.;
    • Reinbold, Céline S.;
    • Koller, Anna C.;
    • Raff, Ruth;
    • Heilmann-Heimbach, Stefanie;
    • Fischer, Sascha B.;
    • null, null;
    • Herms, Stefan;
    • Hoffmann, Per;
    • Thiele, Holger;
    • Nürnberg, Peter;
    • Löhlein Fier, Heide
    Publication type:
    Article
    41
    42

    Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.

    Published in:
    Nature Medicine, 2009, v. 15, n. 11, p. 1281, doi. 10.1038/nm.2037
    By:
    • Hassel, David;
    • Dahme, Tillman;
    • Erdmann, Jeanette;
    • Meder, Benjamin;
    • Huge, Andreas;
    • Stoll, Monika;
    • Just, Steffen;
    • Hess, Alexander;
    • Ehlermann, Philipp;
    • Weichenhan, Dieter;
    • Grimmler, Matthias;
    • Liptau, Henrike;
    • Hetzer, Roland;
    • Regitz-Zagrosek, Vera;
    • Fischer, Christine;
    • Nürnberg, Peter;
    • Schunkert, Heribert;
    • Katus, Hugo A;
    • Rottbauer, Wolfgang
    Publication type:
    Article
    43

    Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.

    Published in:
    Nature Genetics, 2014, v. 46, n. 11, p. 1239, doi. 10.1038/ng.3103
    By:
    • Lessel, Davor;
    • Kubisch, Christian;
    • Cabrera, Elisa;
    • Freire, Raimundo;
    • Nahid, Amsha;
    • Norris, Fiona;
    • Leventer, Richard J;
    • Delatycki, Martin B;
    • Barbi, Gotthold;
    • von Ameln, Simon;
    • Högel, Josef;
    • Fertig, Regina;
    • Burkhalter, Martin D;
    • Hofmann, Kay;
    • Thiele, Holger;
    • Altmüller, Janine;
    • Nürnberg, Gudrun;
    • Vaz, Bruno;
    • Nürnberg, Peter;
    • Bahlo, Melanie
    Publication type:
    Article
    44

    A de novo gain-of-function mutation in SCN11A causes loss of pain perception.

    Published in:
    Nature Genetics, 2013, v. 45, n. 11, p. 1399, doi. 10.1038/ng.2767
    By:
    • Leipold, Enrico;
    • Liebmann, Lutz;
    • Korenke, G Christoph;
    • Heinrich, Theresa;
    • Gießelmann, Sebastian;
    • Baets, Jonathan;
    • Ebbinghaus, Matthias;
    • Goral, R Oliver;
    • Stödberg, Tommy;
    • Hennings, J Christopher;
    • Bergmann, Markus;
    • Altmüller, Janine;
    • Thiele, Holger;
    • Wetzel, Andrea;
    • Nürnberg, Peter;
    • Timmerman, Vincent;
    • De Jonghe, Peter;
    • Blum, Robert;
    • Schaible, Hans-Georg;
    • Weis, Joachim
    Publication type:
    Article
    45
    46

    Mutations in ABCD4 cause a new inborn error of vitamin B<sub>12</sub> metabolism.

    Published in:
    Nature Genetics, 2012, v. 44, n. 10, p. 1152, doi. 10.1038/ng.2386
    By:
    • Coelho, David;
    • Kim, Jaeseung C;
    • Miousse, Isabelle R;
    • Fung, Stephen;
    • du Moulin, Marcel;
    • Buers, Insa;
    • Suormala, Terttu;
    • Burda, Patricie;
    • Frapolli, Michele;
    • Stucki, Martin;
    • Nürnberg, Peter;
    • Thiele, Holger;
    • Robenek, Horst;
    • Höhne, Wolfgang;
    • Longo, Nicola;
    • Pasquali, Marzia;
    • Mengel, Eugen;
    • Watkins, David;
    • Shoubridge, Eric A;
    • Majewski, Jacek
    Publication type:
    Article
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    Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.

    Published in:
    Nature Genetics, 2009, v. 41, n. 11, p. 1179, doi. 10.1038/ng.464
    By:
    • Kurth, Ingo;
    • Pamminger, Torsten;
    • Hennings, J. Christopher;
    • Soehendra, Désirée;
    • Huebner, Antje K.;
    • Rotthier, Annelies;
    • Baets, Jonathan;
    • Senderek, Jan;
    • Topaloglu, Haluk;
    • Farrell, Sandra A.;
    • Nürnberg, Gudrun;
    • Nürnberg, Peter;
    • De Jonghe, Peter;
    • Gal, Andreas;
    • Kaether, Christoph;
    • Timmerman, Vincent;
    • Hübner, Christian A.
    Publication type:
    Article
    49

    RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.

    Published in:
    Nature Genetics, 2009, v. 41, n. 7, p. 773, doi. 10.1038/ng.398
    By:
    • Henneke, Marco;
    • Diekmann, Simone;
    • Ohlenbusch, Andreas;
    • Kaiser, Jens;
    • Engelbrecht, Volkher;
    • Kohlschütter, Alfried;
    • Krätzner, Ralph;
    • Madruga-Garrido, Marcos;
    • Mayer, Michèle;
    • Opitz, Lennart;
    • Rodriguez, Diana;
    • Rüschendorf, Franz;
    • Schumacher, Johannes;
    • Thiele, Holger;
    • Thoms, Sven;
    • Steinfeld, Robert;
    • Nürnberg, Peter;
    • Gärtner, Jutta
    Publication type:
    Article
    50

    Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B<sub>12</sub> metabolism.

    Published in:
    Nature Genetics, 2009, v. 41, n. 2, p. 234, doi. 10.1038/ng.294
    By:
    • Rutsch, Frank;
    • Gailus, Susann;
    • Miousse, Isabelle R.;
    • Suormala, Terttu;
    • Sagné, Corinne;
    • Toliat, Mohammad Reza;
    • Nürnberg, Gudrun;
    • Wittkampf, Tanja;
    • Buers, Insa;
    • Sharifi, Azita;
    • Stucki, Martin;
    • Becker, Christian;
    • Baumgartner, Matthias;
    • Robenek, Horst;
    • Marquardt, Thorsten;
    • Höhne, Wolfgang;
    • Gasnier, Bruno;
    • Rosenblatt, David S.;
    • Fowler, Brian;
    • Nürnberg, Peter
    Publication type:
    Article