Works by 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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    Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.

    Published in:
    Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 3, p. N.PAG, doi. 10.1002/mgg3.539
    By:
    • Lima Cunha, Dulce;
    • Alakloby, Omar Mohammed;
    • Gruber, Robert;
    • Kakar, Naseebullah;
    • Ahmad, Jamil;
    • Alawbathani, Salem;
    • Plank, Roswitha;
    • Eckl, Katja;
    • Krabichler, Birgit;
    • Altmüller, Janine;
    • Nürnberg, Peter;
    • Zschocke, Johannes;
    • Borck, Guntram;
    • Schmuth, Matthias;
    • Alabdulkareem, Adnan S.;
    • Abdulaziz Alnutaifi, Kholood;
    • Hennies, Hans Christian
    Publication type:
    Article
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    Mutations in CDK5 RAP2 cause Seckel syndrome.

    Published in:
    Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 5, p. 467, doi. 10.1002/mgg3.158
    By:
    • Yigit, Gökhan;
    • Brown, Karen E.;
    • Kayserili, Hülya;
    • Pohl, Esther;
    • Caliebe, Almuth;
    • Zahnleiter, Diana;
    • Rosser, Elisabeth;
    • Bögershausen, Nina;
    • Uyguner, Zehra Oya;
    • Altunoglu, Umut;
    • Nürnberg, Gudrun;
    • Nürnberg, Peter;
    • Rauch, Anita;
    • Li, Yun;
    • Thiel, Christian Thomas;
    • Wollnik, Bernd
    Publication type:
    Article
    11

    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
    12

    The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-39466-y
    By:
    • Ahmad, Ilyas;
    • Lokau, Juliane;
    • Kespohl, Birte;
    • Malik, Naveed Altaf;
    • Baig, Shahid Mahmood;
    • Hartig, Roland;
    • Behme, Daniel;
    • Schwab, Roland;
    • Altmüller, Janine;
    • Jameel, Muhammad;
    • Mucha, Sören;
    • Thiele, Holger;
    • Tariq, Muhammad;
    • Nürnberg, Peter;
    • Erdmann, Jeanette;
    • Garbers, Christoph
    Publication type:
    Article
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    Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer.

    Published in:
    Cancers, 2022, v. 14, n. 13, p. N.PAG, doi. 10.3390/cancers14133292
    By:
    • Rolfes, Muriel;
    • Borde, Julika;
    • Möllenhoff, Kathrin;
    • Kayali, Mohamad;
    • Ernst, Corinna;
    • Gehrig, Andrea;
    • Sutter, Christian;
    • Ramser, Juliane;
    • Niederacher, Dieter;
    • Horváth, Judit;
    • Arnold, Norbert;
    • Meindl, Alfons;
    • Auber, Bernd;
    • Rump, Andreas;
    • Wang-Gohrke, Shan;
    • Ritter, Julia;
    • Hentschel, Julia;
    • Thiele, Holger;
    • Altmüller, Janine;
    • Nürnberg, Peter
    Publication type:
    Article
    16

    Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data.

    Published in:
    Genome Biology, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s13059-014-0558-0
    By:
    • Fernandez-Cuesta, Lynnette;
    • Ruping Sun;
    • Menon, Roopika;
    • George, Julie;
    • Lorenz, Susanne;
    • Meza-Zepeda, Leonardo A.;
    • Peifer, Martin;
    • Plenker, Dennis;
    • Heuckmann, Johannes M.;
    • Leenders, Frauke;
    • Zander, Thomas;
    • Dahmen, Ilona;
    • Koker, Mirjam;
    • Schöttle, Jakob;
    • Ullrich, Roland T.;
    • Altmüller, Janine;
    • Becker, Christian;
    • Nürnberg, Peter;
    • Seidel, Henrik;
    • Böhm, Diana
    Publication type:
    Article
    17

    An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.

    Published in:
    Annals of Human Genetics, 2021, v. 85, n. 5, p. 186, doi. 10.1111/ahg.12437
    By:
    • Koko, Mahmoud;
    • Yahia, Ashraf;
    • Elsayed, Liena E.;
    • Hamed, Ahlam A.;
    • Mohammed, Inaam N.;
    • Elseed, Maha A.;
    • Hamad, Muddathir H. A.;
    • Babai, Arwa M.;
    • Siddig, Rayan A.;
    • Abd Allah, Amal S. I.;
    • Mohamed, Mayada;
    • EL‐Amin, Melka;
    • Esteves, Typhaine;
    • Altmüller, Janine;
    • Toliat, Mohammad Reza;
    • Thiele, Holger;
    • Nürnberg, Peter;
    • Salih, Mustafa A.;
    • Ahmed, Ammar E.;
    • Lerche, Holger
    Publication type:
    Article
    18

    Preclinical studies reveal that LSD1 inhibition results in tumor growth arrest in lung adenocarcinoma independently of driver mutations.

    Published in:
    Molecular Oncology, 2018, v. 12, n. 11, p. 1965, doi. 10.1002/1878-0261.12382
    By:
    • Macheleidt, Iris F.;
    • Dalvi, Priya S.;
    • Lim, So‐Young;
    • Meemboor, Sonja;
    • Meder, Lydia;
    • Käsgen, Olivia;
    • Müller, Marion;
    • Kleemann, Karolin;
    • Wang, Lingyu;
    • Nürnberg, Peter;
    • Rüsseler, Vanessa;
    • Schäfer, Stephan C.;
    • Mahabir, Esther;
    • Büttner, Reinhard;
    • Odenthal, Margarete
    Publication type:
    Article
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    OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).

    Published in:
    Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0238-5
    By:
    • Thoenes, Michaela;
    • Zimmermann, Ulrike;
    • Ebermann, Inga;
    • Ptok, Martin;
    • Lewis, Morag A.;
    • Thiele, Holger;
    • Morlot, Susanne;
    • Hess, Markus M.;
    • Gal, Andreas;
    • Eisenberger, Tobias;
    • Bergmann, Carsten;
    • Nürnberg, Gudrun;
    • Nürnberg, Peter;
    • Steel, Karen P.;
    • Knipper, Marlies;
    • Bolz, Hanno Jörn
    Publication type:
    Article
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    Genomic ALK alterations in primary and relapsed neuroblastoma.

    Published in:
    British Journal of Cancer, 2023, v. 128, n. 8, p. 1559, doi. 10.1038/s41416-023-02208-y
    By:
    • Rosswog, Carolina;
    • Fassunke, Jana;
    • Ernst, Angela;
    • Schömig-Markiefka, Birgid;
    • Merkelbach-Bruse, Sabine;
    • Bartenhagen, Christoph;
    • Cartolano, Maria;
    • Ackermann, Sandra;
    • Theissen, Jessica;
    • Blattner-Johnson, Mirjam;
    • Jones, Barbara;
    • Schramm, Kathrin;
    • Altmüller, Janine;
    • Nürnberg, Peter;
    • Ortmann, Monika;
    • Berthold, Frank;
    • Peifer, Martin;
    • Büttner, Reinhard;
    • Westermann, Frank;
    • Schulte, Johannes H.
    Publication type:
    Article
    24

    SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.

    Published in:
    2019
    By:
    • Jurkute, Neringa;
    • Leu, Costin;
    • Pogoda, Hans‐Martin;
    • Arno, Gavin;
    • Robson, Anthony G.;
    • Nürnberg, Gudrun;
    • Altmüller, Janine;
    • Thiele, Holger;
    • Motameny, Susanne;
    • Toliat, Mohammad Reza;
    • Powell, Kate;
    • Höhne, Wolfgang;
    • Michaelides, Michel;
    • Webster, Andrew R.;
    • Moore, Anthony T.;
    • Hammerschmidt, Matthias;
    • Nürnberg, Peter;
    • Yu‐Wai‐Man, Patrick;
    • Votruba, Marcela;
    • Pogoda, Hans-Martin
    Publication type:
    journal article
    25

    Reply.

    Published in:
    2016
    By:
    • Gardella, Elena;
    • Beniczky, Sándor;
    • Møller, Rikke S.;
    • Becker, Felicitas;
    • Lemke, Johannes R.;
    • Syrbe, Steffen;
    • Eiberg, Hans;
    • Bast, Thomas;
    • Steinhoff, Bernhard;
    • Nürnberg, Peter;
    • Gellert, Pia;
    • Dahl, Hans Atli;
    • Weckhuysen, Sarah;
    • Heron, Sarah E.;
    • Dibbens, Leanne M.;
    • Hjalgrim, Helle;
    • Lerche, Holger;
    • Weber, Yvonne G.;
    • Beniczky, Sándor;
    • Møller, Rikke S
    Publication type:
    Letter
    26

    Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

    Published in:
    2016
    By:
    • Gardella, Elena;
    • Becker, Felicitas;
    • Møller, Rikke S.;
    • Schubert, Julian;
    • Lemke, Johannes R.;
    • Larsen, Line H. G.;
    • Eiberg, Hans;
    • Nothnagel, Michael;
    • Thiele, Holger;
    • Altmüller, Janine;
    • Syrbe, Steffen;
    • Merkenschlager, Andreas;
    • Bast, Thomas;
    • Steinhoff, Bernhard;
    • Nürnberg, Peter;
    • Mang, Yuan;
    • Bakke Møller, Louise;
    • Gellert, Pia;
    • Heron, Sarah E.;
    • Dibbens, Leanne M.
    Publication type:
    journal article
    27

    DEPDC5 mutations in genetic focal epilepsies of childhood.

    Published in:
    Annals of Neurology, 2014, v. 75, n. 5, p. 788, doi. 10.1002/ana.24127
    By:
    • Lal, Dennis;
    • Reinthaler, Eva M.;
    • Schubert, Julian;
    • Muhle, Hiltrud;
    • Riesch, Erik;
    • Kluger, Gerhard;
    • Jabbari, Kamel;
    • Kawalia, Amit;
    • Bäumel, Christine;
    • Holthausen, Hans;
    • Hahn, Andreas;
    • Feucht, Martha;
    • Neophytou, Birgit;
    • Haberlandt, Edda;
    • Becker, Felicitas;
    • Altmüller, Janine;
    • Thiele, Holger;
    • Lemke, Johannes R.;
    • Lerche, Holger;
    • Nürnberg, Peter
    Publication type:
    Article
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    Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy.

    Published in:
    Epilepsia (Series 4), 2015, v. 56, n. 9, p. e129, doi. 10.1111/epi.13076
    By:
    • Lal, Dennis;
    • Pernhorst, Katharina;
    • Klein, Karl Martin;
    • Reif, Philipp;
    • Tozzi, Rossana;
    • Toliat, Mohammad R.;
    • Winterer, Georg;
    • Neubauer, Bernd;
    • Nürnberg, Peter;
    • Rosenow, Felix;
    • Becker, Felicitas;
    • Lerche, Holger;
    • Kunz, Wolfram S.;
    • Kurki, Mitja I.;
    • Hoffmann, Per;
    • Becker, Albert J.;
    • Perucca, Emilio;
    • Zara, Federico;
    • Sander, Thomas;
    • Weber, Yvonne G.
    Publication type:
    Article
    31

    Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.

    Published in:
    Epilepsia (Series 4), 2014, v. 55, n. 8, p. e89, doi. 10.1111/epi.12712
    By:
    • Reinthaler, Eva M.;
    • Lal, Dennis;
    • Jurkowski, Wiktor;
    • Feucht, Martha;
    • Steinböck, Hannelore;
    • Gruber‐Sedlmayr, Ursula;
    • Ronen, Gabriel M.;
    • Geldner, Julia;
    • Haberlandt, Edda;
    • Neophytou, Birgit;
    • Hahn, Andreas;
    • Altmüller, Janine;
    • Thiele, Holger;
    • Toliat, Mohammad R.;
    • Lerche, Holger;
    • Nürnberg, Peter;
    • Sander, Thomas;
    • Neubauer, Bernd A.;
    • Zimprich, Fritz
    Publication type:
    Article
    32

    Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy.

    Published in:
    Epilepsia (Series 4), 2013, v. 54, n. 2, p. 265, doi. 10.1111/epi.12084
    By:
    • Lal, Dennis;
    • Trucks, Holger;
    • Møller, Rikke S.;
    • Hjalgrim, Helle;
    • Koeleman, Bobby P. C.;
    • Kovel, Carolien G. F.;
    • Visscher, Frank;
    • Weber, Yvonne G.;
    • Lerche, Holger;
    • Becker, Felicitas;
    • Schankin, Christoph J.;
    • Neubauer, Bernd A.;
    • Surges, Rainer;
    • Kunz, Wolfram S.;
    • Zimprich, Fritz;
    • Franke, Andre;
    • Illig, Thomas;
    • Ried, Janina S.;
    • Leu, Costin;
    • Nürnberg, Peter
    Publication type:
    Article
    33

    Exploration of the Genetic Architecture of Idiopathic Generalized Epilepsies.

    Published in:
    Epilepsia (Series 4), 2006, v. 47, n. 10, p. 1682, doi. 10.1111/j.1528-1167.2006.00677.x
    By:
    • Hempelmann, Anne;
    • Taylor, Kirsten P.;
    • Heils, Armin;
    • Lorenz, Susanne;
    • Prud'Homme, Jean-Francois;
    • Nabbout, Rima;
    • Dulac, Olivier;
    • Rudolf, Gabrielle;
    • Zara, Federico;
    • Bianchi, Amedeo;
    • Robinson, Robert;
    • Gardiner, R. Mark;
    • Covanis, Athanasios;
    • Lindhout, Dick;
    • Stephani, Ulrich;
    • Elger, Christian E.;
    • Weber, Yvonne G.;
    • Lerche, Holger;
    • Nürnberg, Peter;
    • Kron, Katherine L.
    Publication type:
    Article
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