Works by Altmüller, Janine

Results: 173
    1

    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
    2
    3
    4

    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
    5

    Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

    Published in:
    Cancers, 2022, v. 14, n. 14, p. N.PAG, doi. 10.3390/cancers14143363
    By:
    • Dumont, Martine;
    • Weber-Lassalle, Nana;
    • Joly-Beauparlant, Charles;
    • Ernst, Corinna;
    • Droit, Arnaud;
    • Feng, Bing-Jian;
    • Dubois, Stéphane;
    • Collin-Deschesnes, Annie-Claude;
    • Soucy, Penny;
    • Vallée, Maxime;
    • Fournier, Frédéric;
    • Lemaçon, Audrey;
    • Adank, Muriel A.;
    • Allen, Jamie;
    • Altmüller, Janine;
    • Arnold, Norbert;
    • Ausems, Margreet G. E. M.;
    • Berutti, Riccardo;
    • Bolla, Manjeet K.;
    • Bull, Shelley
    Publication type:
    Article
    6

    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
    7
    8
    9

    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
    10

    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
    11
    12

    Cell type‐specific transcriptomics of esophageal adenocarcinoma as a scalable alternative for single cell transcriptomics.

    Published in:
    Molecular Oncology, 2020, v. 14, n. 6, p. 1170, doi. 10.1002/1878-0261.12680
    By:
    • Krämer, Max;
    • Plum, Patrick S.;
    • Velazquez Camacho, Oscar;
    • Folz‐Donahue, Kat;
    • Thelen, Martin;
    • Garcia‐Marquez, Isabel;
    • Wölwer, Christina;
    • Büsker, Sören;
    • Wittig, Jana;
    • Franitza, Marek;
    • Altmüller, Janine;
    • Löser, Heike;
    • Schlößer, Hans;
    • Büttner, Reinhard;
    • Schröder, Wolfgang;
    • Bruns, Christiane J.;
    • Alakus, Hakan;
    • Quaas, Alexander;
    • Chon, Seung‐Hun;
    • Hillmer, Axel M.
    Publication type:
    Article
    13

    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
    14

    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
    15

    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
    16

    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
    17

    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
    18

    HMGB1 coordinates SASP‐related chromatin folding and RNA homeostasis on the path to senescence.

    Published in:
    Molecular Systems Biology, 2021, v. 17, n. 6, p. 1, doi. 10.15252/msb.20209760
    By:
    • Sofiadis, Konstantinos;
    • Josipovic, Natasa;
    • Nikolic, Milos;
    • Kargapolova, Yulia;
    • Übelmesser, Nadine;
    • Varamogianni‐Mamatsi, Vassiliki;
    • Zirkel, Anne;
    • Papadionysiou, Ioanna;
    • Loughran, Gary;
    • Keane, James;
    • Michel, Audrey;
    • Gusmao, Eduardo G;
    • Becker, Christian;
    • Altmüller, Janine;
    • Georgomanolis, Theodore;
    • Mizi, Athanasia;
    • Papantonis, Argyris
    Publication type:
    Article
    19
    20
    21

    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
    22
    23
    24

    Alport syndrome and autosomal dominant tubulointerstitial kidney disease frequently underlie end-stage renal disease of unknown origin—a single-center analysis.

    Published in:
    Nephrology Dialysis Transplantation, 2022, v. 37, n. 10, p. 1895, doi. 10.1093/ndt/gfac163
    By:
    • Leenen, Esther;
    • Erger, Florian;
    • Altmüller, Janine;
    • Wenzel, Andrea;
    • Thiele, Holger;
    • Harth, Ana;
    • Tschernoster, Nikolai;
    • Lokhande, Shanti;
    • Joerres, Achim;
    • Becker, Jan-Ulrich;
    • Ekici, Arif;
    • Huettel, Bruno;
    • Beck, Bodo;
    • Weidemann, Alexander
    Publication type:
    Article
    25

    MTBP phosphorylation controls DNA replication origin firing.

    Published in:
    Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-83287-w
    By:
    • Ferreira, Pedro;
    • Höfer, Verena;
    • Kronshage, Nora;
    • Marko, Anika;
    • Reusswig, Karl-Uwe;
    • Tetik, Bilal;
    • Dießel, Christoph;
    • Köhler, Kerstin;
    • Tschernoster, Nikolai;
    • Altmüller, Janine;
    • Schulze, Nina;
    • Pfander, Boris;
    • Boos, Dominik
    Publication type:
    Article
    26
    27
    28

    Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-03099-x
    By:
    • George, Julie;
    • Alexandrov, Ludmil B.;
    • Seidel, Danila;
    • Leenders, Frauke;
    • Maas, Lukas;
    • Müller, Christian;
    • Dahmen, Ilona;
    • Delhomme, Tiffany M.;
    • Ardin, Maude;
    • Leblay, Noemie;
    • Byrnes, Graham;
    • Sun, Ruping;
    • De Reynies, Aurélien;
    • McLeer-Florin, Anne;
    • Bosco, Graziella;
    • Malchers, Florian;
    • Menon, Roopika;
    • Altmüller, Janine;
    • Becker, Christian;
    • Nürnberg, Peter
    Publication type:
    Article
    29

    Clonal dynamics towards the development of venetoclax resistance in chronic lymphocytic leukemia.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-03170-7
    By:
    • Herling, Carmen D.;
    • Abedpour, Nima;
    • Weiss, Jonathan;
    • Schmitt, Anna;
    • Jachimowicz, Ron Daniel;
    • Merkel, Olaf;
    • Cartolano, Maria;
    • Oberbeck, Sebastian;
    • Mayer, Petra;
    • Berg, Valeska;
    • Thomalla, Daniel;
    • Kutsch, Nadine;
    • Stiefelhagen, Marius;
    • Cramer, Paula;
    • Wendtner, Clemens-Martin;
    • Persigehl, Thorsten;
    • Saleh, Andreas;
    • Altmüller, Janine;
    • Nürnberg, Peter;
    • Pallasch, Christian
    Publication type:
    Article
    30

    Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder.

    Published in:
    Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-00932-7
    By:
    • Huppke, Peter;
    • Weissbach, Susann;
    • Church, Joseph A.;
    • Schnur, Rhonda;
    • Krusen, Martina;
    • Dreha-Kulaczewski, Steffi;
    • Kühn-Velten, W. Nikolaus;
    • Wolf, Annika;
    • Huppke, Brenda;
    • Millan, Francisca;
    • Begtrup, Amber;
    • Almusafri, Fatima;
    • Thiele, Holger;
    • Altmüller, Janine;
    • Nürnberg, Peter;
    • Müller, Michael;
    • Gärtner, Jutta
    Publication type:
    Article
    31
    32

    cfNOMe — A single assay for comprehensive epigenetic analyses of cell-free DNA.

    Published in:
    Genome Medicine, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13073-020-00750-5
    By:
    • Erger, Florian;
    • Nörling, Deborah;
    • Borchert, Domenica;
    • Leenen, Esther;
    • Habbig, Sandra;
    • Wiesener, Michael S.;
    • Bartram, Malte P.;
    • Wenzel, Andrea;
    • Becker, Christian;
    • Toliat, Mohammad R.;
    • Nürnberg, Peter;
    • Beck, Bodo B.;
    • Altmüller, Janine
    Publication type:
    Article
    33
    34
    35
    36

    Association of ultra‐rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study.

    Published in:
    Epilepsia (Series 4), 2022, v. 63, n. 3, p. 723, doi. 10.1111/epi.17166
    By:
    • Koko, Mahmoud;
    • Motelow, Joshua E.;
    • Stanley, Kate E.;
    • Bobbili, Dheeraj R.;
    • Dhindsa, Ryan S.;
    • May, Patrick;
    • Alldredge, Brian K.;
    • Allen, Andrew S.;
    • Altmüller, Janine;
    • Amrom, Dina;
    • Andermann, Eva;
    • Auce, Pauls;
    • Avbersek, Andreja;
    • Baulac, Stéphanie;
    • Bautista, Jocelyn F.;
    • Becker, Felicitas;
    • Bellows, Susannah T.;
    • Berghuis, Bianca;
    • Berkovic, Samuel F.;
    • Bluvstein, Judith
    Publication type:
    Article
    37
    38

    Deciphering the genetic basis of microcystin tolerance.

    Published in:
    BMC Genomics, 2014, v. 15, n. 1, p. 776, doi. 10.1186/1471-2164-15-776
    By:
    • Schwarzenberger, Anke;
    • Sadler, Thomas;
    • Motameny, Susanne;
    • Ben-Khalifa, Kamel;
    • Frommolt, Peter;
    • Altmüller, Janine;
    • Konrad, Kathryn;
    • von Elert, Eric
    Publication type:
    Article
    39

    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
    40
    41
    42

    Exome sequencing in syndromic brain malformations identifies novel mutations in <italic>ACTB</italic>, and <italic>SLC9A6</italic>, and suggests <italic>BAZ1A</italic> as a new candidate gene.

    Published in:
    Birth Defects Research, 2018, v. 110, n. 7, p. 587, doi. 10.1002/bdr2.1200
    By:
    • Weitensteiner, Valerie;
    • Zhang, Rong;
    • Bungenberg, Julia;
    • Marks, Matthias;
    • Gehlen, Jan;
    • Ralser, Damian J.;
    • Hilger, Alina C.;
    • Sharma, Amit;
    • Schumacher, Johannes;
    • Gembruch, Ulrich;
    • Merz, Waltraut M.;
    • Becker, Albert;
    • Altmüller, Janine;
    • Thiele, Holger;
    • Herrmann, Bernhard G.;
    • Odermatt, Benjamin;
    • Ludwig, Michael;
    • Reutter, Heiko
    Publication type:
    Article
    43
    44
    45

    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
    46
    47
    48
    49
    50