Works matching AU Altmüller, Janine

Results: 173
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    WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.

    Published in:
    Human Mutation, 2022, v. 43, n. 10, p. 1454, doi. 10.1002/humu.24430
    By:
    • Bögershausen, Nina;
    • Krawczyk, Hannah E.;
    • Jamra, Rami A.;
    • Lin, Sheng‐Jia;
    • Yigit, Gökhan;
    • Hüning, Irina;
    • Polo, Anna M.;
    • Vona, Barbara;
    • Huang, Kevin;
    • Schmidt, Julia;
    • Altmüller, Janine;
    • Luppe, Johannes;
    • Platzer, Konrad;
    • Dörgeloh, Beate B.;
    • Busche, Andreas;
    • Biskup, Saskia;
    • Mendes, Marisa I.;
    • Smith, Desiree E. C.;
    • Salomons, Gajja S.;
    • Zibat, Arne
    Publication type:
    Article
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    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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    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
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    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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    Genetic Alterations, Therapy Response, and Survival Among Patients With Triple-Negative Breast Cancer: A Secondary Analysis of a Randomized Clinical Trial.

    Published in:
    JAMA Network Open, 2025, v. 8, n. 2, p. e2461639, doi. 10.1001/jamanetworkopen.2024.61639
    By:
    • Richters, Lisa;
    • Gluz, Oleg;
    • Weber-Lassalle, Nana;
    • Christgen, Matthias;
    • Haverkamp, Heinz;
    • Kuemmel, Sherko;
    • Kayali, Mohamad;
    • Kates, Ronald E.;
    • Grischke, Eva-Maria;
    • Altmüller, Janine;
    • Forstbauer, Helmut;
    • Thiele, Holger;
    • Braun, Michael;
    • Warm, Mathias;
    • Ossowski, Anna;
    • Wuerstlein, Rachel;
    • Ernst, Corinna;
    • Graeser, Monika;
    • Linn, Sabine C.;
    • Nitz, Ulrike
    Publication type:
    Article
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    Biotrophic Development of Ustilago maydis Studied by RNA-Seq Analysis.

    Published in:
    Plant Cell, 2018, v. 30, n. 2, p. 300, doi. 10.1105/tpc.17.00764
    By:
    • Lanver, Daniel;
    • Müller, André N.;
    • Happel, Petra;
    • Schweizer, Gabriel;
    • Haas, Fabian B.;
    • Franitza, Marek;
    • Pellegrin, Clément;
    • Reissmann, Stefanie;
    • Altmüller, Janine;
    • Rensing, Stefan A.;
    • Kahmann, Regine
    Publication type:
    Article
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    Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy.

    Published in:
    Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-26347-y
    By:
    • Gonçalves, Inês do Carmo G.;
    • Brecht, Johanna;
    • Thelen, Maximilian P.;
    • Rehorst, Wiebke A.;
    • Peters, Miriam;
    • Lee, Hyun Ju;
    • Motameny, Susanne;
    • Torres-Benito, Laura;
    • Ebrahimi-Fakhari, Darius;
    • Kononenko, Natalia L.;
    • Altmüller, Janine;
    • Vilchez, David;
    • Sahin, Mustafa;
    • Wirth, Brunhilde;
    • Kye, Min Jeong
    Publication type:
    Article
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    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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    Modifier Genes in Microcephaly: A Report on WDR62 , CEP63 , RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.

    Published in:
    Genes, 2021, v. 12, n. 5, p. 731, doi. 10.3390/genes12050731
    By:
    • Makhdoom, Ehtisham Ul Haq;
    • Waseem, Syeda Seema;
    • Iqbal, Maria;
    • Abdullah, Uzma;
    • Hussain, Ghulam;
    • Asif, Maria;
    • Budde, Birgit;
    • Höhne, Wolfgang;
    • Tinschert, Sigrid;
    • Saadi, Saadia Maryam;
    • Yousaf, Hammad;
    • Ali, Zafar;
    • Fatima, Ambrin;
    • Kaygusuz, Emrah;
    • Khan, Ayaz;
    • Jameel, Muhammad;
    • Khan, Sheraz;
    • Tariq, Muhammad;
    • Anjum, Iram;
    • Altmüller, Janine
    Publication type:
    Article
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    Rare gene deletions in genetic generalized and Rolandic epilepsies.

    Published in:
    PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0202022
    By:
    • Jabbari, Kamel;
    • Bobbili, Dheeraj R.;
    • Lal, Dennis;
    • Reinthaler, Eva M.;
    • Schubert, Julian;
    • Wolking, Stefan;
    • Sinha, Vishal;
    • Motameny, Susanne;
    • Thiele, Holger;
    • Kawalia, Amit;
    • Altmüller, Janine;
    • Toliat, Mohammad Reza;
    • Kraaij, Robert;
    • van Rooij, Jeroen;
    • Uitterlinden, André G.;
    • Ikram, M. Arfan;
    • null, null;
    • Zara, Federico;
    • Lehesjoki, Anna-Elina;
    • Krause, Roland
    Publication type:
    Article
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    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
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    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
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    Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.

    Published in:
    Nature Genetics, 2013, v. 45, n. 5, p. 531, doi. 10.1038/ng.2590
    By:
    • Lemaire, Mathieu;
    • Frémeaux-Bacchi, Véronique;
    • Schaefer, Franz;
    • Choi, Murim;
    • Tang, Wai Ho;
    • Le Quintrec, Moglie;
    • Fakhouri, Fadi;
    • Taque, Sophie;
    • Nobili, François;
    • Martinez, Frank;
    • Ji, Weizhen;
    • Overton, John D;
    • Mane, Shrikant M;
    • Nürnberg, Gudrun;
    • Altmüller, Janine;
    • Thiele, Holger;
    • Morin, Denis;
    • Deschenes, Georges;
    • Baudouin, Véronique;
    • Llanas, Brigitte
    Publication type:
    Article
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    Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer.

    Published in:
    Nature Genetics, 2012, v. 44, n. 10, p. 1104, doi. 10.1038/ng.2396
    By:
    • Peifer, Martin;
    • Fernández-Cuesta, Lynnette;
    • Sos, Martin L;
    • George, Julie;
    • Seidel, Danila;
    • Kasper, Lawryn H;
    • Plenker, Dennis;
    • Leenders, Frauke;
    • Sun, Ruping;
    • Zander, Thomas;
    • Menon, Roopika;
    • Koker, Mirjam;
    • Dahmen, Ilona;
    • Müller, Christian;
    • Di Cerbo, Vincenzo;
    • Schildhaus, Hans-Ulrich;
    • Altmüller, Janine;
    • Baessmann, Ingelore;
    • Becker, Christian;
    • de Wilde, Bram
    Publication type:
    Article
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    Lifestyle transitions in plant pathogenic Colletotrichum fungi deciphered by genome and transcriptome analyses.

    Published in:
    Nature Genetics, 2012, v. 44, n. 9, p. 1060, doi. 10.1038/ng.2372
    By:
    • O'Connell, Richard J;
    • Thon, Michael R;
    • Hacquard, Stéphane;
    • Amyotte, Stefan G;
    • Kleemann, Jochen;
    • Torres, Maria F;
    • Damm, Ulrike;
    • Buiate, Ester A;
    • Epstein, Lynn;
    • Alkan, Noam;
    • Altmüller, Janine;
    • Alvarado-Balderrama, Lucia;
    • Bauser, Christopher A;
    • Becker, Christian;
    • Birren, Bruce W;
    • Chen, Zehua;
    • Choi, Jaeyoung;
    • Crouch, Jo Anne;
    • Duvick, Jonathan P;
    • Farman, Mark A
    Publication type:
    Article
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    The genome of Romanomermis culicivorax: revealing fundamental changes in the core developmental genetic toolkit in Nematoda.

    Published in:
    BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-923
    By:
    • Schiffer, Philipp H.;
    • Kroiher, Michael;
    • Kraus, Christopher;
    • Koutsovoulos, Georgios D.;
    • Kumar, Sujai;
    • Camps, Julia I. R.;
    • Nsah, Ndifon A.;
    • Stappert, Dominik;
    • Morris, Krystalynne;
    • Heger, Peter;
    • Altmüller, Janine;
    • Frommolt, Peter;
    • Nürnberg, Peter;
    • Thomas, W. Kelley;
    • Blaxter, Mark L.;
    • Schierenberg, Einhard
    Publication type:
    Article
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    Telomerase activation by genomic rearrangements in high-risk neuroblastoma.

    Published in:
    Nature, 2015, v. 526, n. 7575, p. 700, doi. 10.1038/nature14980
    By:
    • Peifer, Martin;
    • Hertwig, Falk;
    • Roels, Frederik;
    • Dreidax, Daniel;
    • Gartlgruber, Moritz;
    • Menon, Roopika;
    • Krämer, Andrea;
    • Roncaioli, Justin L.;
    • Sand, Frederik;
    • Heuckmann, Johannes M.;
    • Ikram, Fakhera;
    • Schmidt, Rene;
    • Ackermann, Sandra;
    • Engesser, Anne;
    • Kahlert, Yvonne;
    • Vogel, Wenzel;
    • Altmüller, Janine;
    • Nürnberg, Peter;
    • Thierry-Mieg, Jean;
    • Thierry-Mieg, Danielle
    Publication type:
    Article
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    Olfactory receptors as Biomarkers in human Breast carcinoma Tissues.

    Published in:
    Frontiers in Oncology, 2018, p. 1, doi. 10.3389/fonc.2018.00033
    By:
    • Weber, Lea;
    • Maßberg, Désirée;
    • Becker, Christian;
    • Altmüller, Janine;
    • Ubrig, Burkhard;
    • Bonatz, Gabriele;
    • Wölk, Gerhard;
    • Philippou, Stathis;
    • Tannapfel, Andrea;
    • Hatt, Hanns;
    • Gisselmann, Günter
    Publication type:
    Article
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    RNA modification mapping with JACUSA2.

    Published in:
    Genome Biology, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s13059-022-02676-0
    By:
    • Piechotta, Michael;
    • Naarmann-de Vries, Isabel S.;
    • Wang, Qi;
    • Altmüller, Janine;
    • Dieterich, Christoph
    Publication type:
    Article
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    Deep Sequencing of the Murine Olfactory Receptor Neuron Transcriptome.

    Published in:
    PLoS ONE, 2015, v. 10, n. 1, p. 1, doi. 10.1371/journal.pone.0113170
    By:
    • Kanageswaran, Ninthujah;
    • Demond, Marilen;
    • Nagel, Maximilian;
    • Schreiner, Benjamin S. P.;
    • Baumgart, Sabrina;
    • Scholz, Paul;
    • Altmüller, Janine;
    • Becker, Christian;
    • Doerner, Julia F.;
    • Conrad, Heike;
    • Oberland, Sonja;
    • Wetzel, Christian H.;
    • Neuhaus, Eva M.;
    • Hatt, Hanns;
    • Gisselmann, Günter
    Publication type:
    Article
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    <i>SOX9</i> Duplication Linked to Intersex in Deer.

    Published in:
    PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0073734
    By:
    • Kropatsch, Regina;
    • Dekomien, Gabriele;
    • Akkad, Denis A.;
    • Gerding, Wanda M.;
    • Petrasch-Parwez, Elisabeth;
    • Young, Neil D.;
    • Altmüller, Janine;
    • Nürnberg, Peter;
    • Gasser, Robin B.;
    • Epplen, Jörg T.
    Publication type:
    Article
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    <i>RBFOX1</i> and <i>RBFOX3</i> Mutations in Rolandic Epilepsy.

    Published in:
    PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0073323
    By:
    • Lal, Dennis;
    • Reinthaler, Eva M.;
    • Altmüller, Janine;
    • Toliat, Mohammad R.;
    • Thiele, Holger;
    • Nürnberg, Peter;
    • Lerche, Holger;
    • Hahn, Andreas;
    • Møller, Rikke S.;
    • Muhle, Hiltrud;
    • Sander, Thomas;
    • Zimprich, Fritz;
    • Neubauer, Bernd A.
    Publication type:
    Article
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    Benchmarking of Mutation Diagnostics in Clinical Lung Cancer Specimens.

    Published in:
    PLoS ONE, 2011, v. 6, n. 5, p. 1, doi. 10.1371/journal.pone.0019601
    By:
    • Querings, Silvia;
    • Altmüller, Janine;
    • Ansén, Sascha;
    • Zander, Thomas;
    • Seidel, Danila;
    • Gabler, Franziska;
    • Peifer, Martin;
    • Markert, Eva;
    • Stemshorn, Kathryn;
    • Timmermann, Bernd;
    • Saal, Beate;
    • Klose, Stefan;
    • Ernestus, Karen;
    • Scheffler, Matthias;
    • Engel-Riedel, Walburga;
    • Stoelben, Erich;
    • Brambilla, Elisabeth;
    • Wolf, Jürgen;
    • Nürnberg, Peter;
    • Thomas, Roman K.
    Publication type:
    Article
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    Tracheal brush cells release acetylcholine in response to bitter tastants for paracrine and autocrine signaling.

    Published in:
    FASEB Journal, 2020, v. 34, n. 1, p. 316, doi. 10.1096/fj.201901314RR
    By:
    • Hollenhorst, Monika I.;
    • Jurastow, Innokentij;
    • Nandigama, Rajender;
    • Appenzeller, Silke;
    • Li, Lei;
    • Vogel, Jörg;
    • Wiederhold, Stephanie;
    • Althaus, Mike;
    • Empting, Martin;
    • Altmüller, Janine;
    • Hirsch, Anna K. H.;
    • Flockerzi, Veit;
    • Canning, Brendan J.;
    • Saliba, Antoine‐Emmanuel;
    • Krasteva‐Christ, Gabriela
    Publication type:
    Article
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    Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.

    Published in:
    FASEB Journal, 2019, v. 33, n. 10, p. 1, doi. 10.1096/fj.201900914RR
    By:
    • Preising, Markus N.;
    • Görg, Boris;
    • Friedburg, Christoph;
    • Qvartskhava, Natalia;
    • Budde, Birgit S.;
    • Bonus, Michele;
    • Toliat, Mohammad R.;
    • Pfleger, Christopher;
    • Altmüller, Janine;
    • Herebian, Diran;
    • Beyer, Mila;
    • Zöllner, Helge J.;
    • Wittsack, Hans-Jörg;
    • Schaper, Jörg;
    • Klee, Dirk;
    • Zechner, Ulrich;
    • Nürnberg, Peter;
    • Schipper, Jörg;
    • Schnitzler, Alfons;
    • Gohlke, Holger
    Publication type:
    Article
    42

    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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    Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 9, p. 2594, doi. 10.1093/hmg/ddv022
    By:
    • Elsayed, Solaf M.;
    • Phillips, Jennifer B.;
    • Heller, Raoul;
    • Thoenes, Michaela;
    • Elsobky, Ezzat;
    • Nürnberg, Gudrun;
    • Nürnberg, Peter;
    • Seland, Saskia;
    • Ebermann, Inga;
    • Altmüller, Janine;
    • Thiele, Holger;
    • Toliat, Mohammad;
    • Körber, Friederike;
    • Xue-Jia Hu;
    • Wu, Yun-Dong;
    • Zaki, Maha S.;
    • Abdel-Salam, Ghada;
    • Gleeson, Joseph;
    • Boltshauser, Eugen;
    • Westerfield, Monte
    Publication type:
    Article