Peter Nürnberg (P Nürnberg)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 37

Top Venues

Genes

Nature

Acta neuropathologica

Clinical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Julie George, Lukas Maas, Nima Abedpour, Maria Cartolano, Laura Kaiser, Rieke N Fischer, Andreas H Scheel, Jan-Philipp Weber, Martin Gunnar Hellmich, Graziella Bosco, Caroline Volz, Christian Mueller, Ilona Dahmen, Felix John, Cleidson Padua Alves, Lisa Werr, Jens Peter Panse, Martin Kirschner, Walburga Engel-Riedel, Jessica Jürgens, Erich Stoelben, Michael Brockmann, Stefan J Grau, Martin Sebastian, Jan A Stratmann, Jens Kern, Horst-Dieter Hummel, Balazs Hegedüs, Martin Schuler, Till Plönes, Clemens Aigner, Thomas Elter, Karin Toepelt, Yon-Dschun Ko, Sylke Kurz, Christian Grohé, Monika Serke, Katja Höpker, Lars Hagmeyer, Fabian Doerr, Khosro Hekmath, Judith Strapatsas, Karl-Otto Kambartel, Geothy Chakupurakal, Annette Busch, Franz-Georg Bauernfeind, Frank Griesinger, Anne Luers, Wiebke Dirks, Rainer Wiewrodt, Andrea Luecke, Ernst Rodermann, Andreas Diel, Volker Hagen, Kai Severin, Roland T Ullrich, Hans Christian Reinhardt, Alexander Quaas, Magdalena Bogus, Cornelius Courts, Peter Nürnberg, Kerstin Becker, Viktor Achter, Reinhard Buttner, Jürgen Wolf, Martin Peifer, Roman K Thomas
Evolutionary trajectories of small cell lung cancer under therapy. Nature 627 (8005) (2024)
Julie George, Lukas Maas, Nima Abedpour, Maria Cartolano, Laura Kaiser, Rieke N Fischer, Andreas H Scheel, Jan-Philipp Weber, Martin Gunnar Hellmich, Graziella Bosco, Caroline Volz, Christian Mueller, Ilona Dahmen, Felix John, Cleidson Padua Alves, Lisa Werr, Jens Peter Panse, Martin Kirschner, Walburga Engel-Riedel, Jessica Jürgens, Erich Stoelben, Michael Brockmann, Stefan J Grau, Martin Sebastian, Jan A Stratmann, Jens Kern, Horst-Dieter Hummel, Balazs Hegedüs, Martin Schuler, Till Plönes, Clemens Aigner, Thomas Elter, Karin Toepelt, Yon-Dschun Ko, Sylke Kurz, Christian Grohé, Monika Serke, Katja Höpker, Lars Hagmeyer, Fabian Doerr, Khosro Hekmath, Judith Strapatsas, Karl-Otto Kambartel, Geothy Chakupurakal, Annette Busch, Franz-Georg Bauernfeind, Frank Griesinger, Anne Luers, Wiebke Dirks, Rainer Wiewrodt, Andrea Luecke, Ernst Rodermann, Andreas Diel, Volker Hagen, Kai Severin, Roland T Ullrich, Hans Christian Reinhardt, Alexander Quaas, Magdalena Bogus, Cornelius Courts, Peter Nürnberg, Kerstin Becker, Viktor Achter, Reinhard Buttner, Jürgen Wolf, Martin Peifer, Roman K Thomas
Evolutionary trajectories of small cell lung cancer under therapy. Nature 627 (8005) (2024)
Julie George, Lukas Maas, Nima Abedpour, Maria Cartolano, Laura Kaiser, Rieke N Fischer, Andreas H Scheel, Jan-Philipp Weber, Martin Gunnar Hellmich, Graziella Bosco, Caroline Volz, Christian Mueller, Ilona Dahmen, Felix John, Cleidson Padua Alves, Lisa Werr, Jens Peter Panse, Martin Kirschner, Walburga Engel-Riedel, Jessica Jürgens, Erich Stoelben, Michael Brockmann, Stefan J Grau, Martin Sebastian, Jan A Stratmann, Jens Kern, Horst-Dieter Hummel, Balazs Hegedüs, Martin Schuler, Till Plönes, Clemens Aigner, Thomas Elter, Karin Toepelt, Yon-Dschun Ko, Sylke Kurz, Christian Grohé, Monika Serke, Katja Höpker, Lars Hagmeyer, Fabian Doerr, Khosro Hekmath, Judith Strapatsas, Karl-Otto Kambartel, Geothy Chakupurakal, Annette Busch, Franz-Georg Bauernfeind, Frank Griesinger, Anne Luers, Wiebke Dirks, Rainer Wiewrodt, Andrea Luecke, Ernst Rodermann, Andreas Diel, Volker Hagen, Kai Severin, Roland T Ullrich, Hans Christian Reinhardt, Alexander Quaas, Magdalena Bogus, Cornelius Courts, Peter Nürnberg, Kerstin Becker, Viktor Achter, Reinhard Buttner, Jürgen Wolf, Martin Peifer, Roman K Thomas
Evolutionary trajectories of small cell lung cancer under therapy. Nature (2024)
Julie George, Lukas Maas, Nima Abedpour, Maria Cartolano, Laura Kaiser, Rieke N Fischer, Andreas H Scheel, Jan-Philipp Weber, Martin Gunnar Hellmich, Graziella Bosco, Caroline Volz, Christian Mueller, Ilona Dahmen, Felix John, Cleidson Padua Alves, Lisa Werr, Jens Peter Panse, Martin Kirschner, Walburga Engel-Riedel, Jessica Jürgens, Erich Stoelben, Michael Brockmann, Stefan J Grau, Martin Sebastian, Jan A Stratmann, Jens Kern, Horst-Dieter Hummel, Balazs Hegedüs, Martin Schuler, Till Plönes, Clemens Aigner, Thomas Elter, Karin Toepelt, Yon-Dschun Ko, Sylke Kurz, Christian Grohé, Monika Serke, Katja Höpker, Lars Hagmeyer, Fabian Doerr, Khosro Hekmath, Judith Strapatsas, Karl-Otto Kambartel, Geothy Chakupurakal, Annette Busch, Franz-Georg Bauernfeind, Frank Griesinger, Anne Luers, Wiebke Dirks, Rainer Wiewrodt, Andrea Luecke, Ernst Rodermann, Andreas Diel, Volker Hagen, Kai Severin, Roland T Ullrich, Hans Christian Reinhardt, Alexander Quaas, Magdalena Bogus, Cornelius Courts, Peter Nürnberg, Kerstin Becker, Viktor Achter, Reinhard Buttner, Jürgen Wolf, Martin Peifer, Roman K Thomas
Evolutionary trajectories of small cell lung cancer under therapy. Nature 627 (8005) (2024)
Julie George, Lukas Maas, Nima Abedpour, Maria Cartolano, Laura Kaiser, Rieke N Fischer, Andreas H Scheel, Jan-Philipp Weber, Martin Gunnar Hellmich, Graziella Bosco, Caroline Volz, Christian Mueller, Ilona Dahmen, Felix John, Cleidson Padua Alves, Lisa Werr, Jens Peter Panse, Martin Kirschner, Walburga Engel-Riedel, Jessica Jürgens, Erich Stoelben, Michael Brockmann, Stefan J Grau, Martin Sebastian, Jan A Stratmann, Jens Kern, Horst-Dieter Hummel, Balazs Hegedüs, Martin Schuler, Till Plönes, Clemens Aigner, Thomas Elter, Karin Toepelt, Yon-Dschun Ko, Sylke Kurz, Christian Grohé, Monika Serke, Katja Höpker, Lars Hagmeyer, Fabian Doerr, Khosro Hekmath, Judith Strapatsas, Karl-Otto Kambartel, Geothy Chakupurakal, Annette Busch, Franz-Georg Bauernfeind, Frank Griesinger, Anne Luers, Wiebke Dirks, Rainer Wiewrodt, Andrea Luecke, Ernst Rodermann, Andreas Diel, Volker Hagen, Kai Severin, Roland T Ullrich, Hans Christian Reinhardt, Alexander Quaas, Magdalena Bogus, Cornelius Courts, Peter Nürnberg, Kerstin Becker, Viktor Achter, Reinhard Buttner, Jürgen Wolf, Martin Peifer, Roman K Thomas
Evolutionary trajectories of small cell lung cancer under therapy. Nature (2024)
Julie George, Lukas Maas, Nima Abedpour, Maria Cartolano, Laura Kaiser, Rieke N Fischer, Andreas H Scheel, Jan-Philipp Weber, Martin Gunnar Hellmich, Graziella Bosco, Caroline Volz, Christian Mueller, Ilona Dahmen, Felix John, Cleidson Padua Alves, Lisa Werr, Jens Peter Panse, Martin Kirschner, Walburga Engel-Riedel, Jessica Jürgens, Erich Stoelben, Michael Brockmann, Stefan J Grau, Martin Sebastian, Jan A Stratmann, Jens Kern, Horst-Dieter Hummel, Balazs Hegedüs, Martin Schuler, Till Plönes, Clemens Aigner, Thomas Elter, Karin Toepelt, Yon-Dschun Ko, Sylke Kurz, Christian Grohé, Monika Serke, Katja Höpker, Lars Hagmeyer, Fabian Doerr, Khosro Hekmath, Judith Strapatsas, Karl-Otto Kambartel, Geothy Chakupurakal, Annette Busch, Franz-Georg Bauernfeind, Frank Griesinger, Anne Luers, Wiebke Dirks, Rainer Wiewrodt, Andrea Luecke, Ernst Rodermann, Andreas Diel, Volker Hagen, Kai Severin, Roland T Ullrich, Hans Christian Reinhardt, Alexander Quaas, Magdalena Bogus, Cornelius Courts, Peter Nürnberg, Kerstin Becker, Viktor Achter, Reinhard Buttner, Jürgen Wolf, Martin Peifer, Roman K Thomas
Evolutionary trajectories of small cell lung cancer under therapy. Nature 627 (8005) (2024)
Julie George, Lukas Maas, Nima Abedpour, Maria Cartolano, Laura Kaiser, Rieke N Fischer, Andreas H Scheel, Jan-Philipp Weber, Martin Gunnar Hellmich, Graziella Bosco, Caroline Volz, Christian Mueller, Ilona Dahmen, Felix John, Cleidson Padua Alves, Lisa Werr, Jens Peter Panse, Martin Kirschner, Walburga Engel-Riedel, Jessica Jürgens, Erich Stoelben, Michael Brockmann, Stefan J Grau, Martin Sebastian, Jan A Stratmann, Jens Kern, Horst-Dieter Hummel, Balazs Hegedüs, Martin Schuler, Till Plönes, Clemens Aigner, Thomas Elter, Karin Toepelt, Yon-Dschun Ko, Sylke Kurz, Christian Grohé, Monika Serke, Katja Höpker, Lars Hagmeyer, Fabian Doerr, Khosro Hekmath, Judith Strapatsas, Karl-Otto Kambartel, Geothy Chakupurakal, Annette Busch, Franz-Georg Bauernfeind, Frank Griesinger, Anne Luers, Wiebke Dirks, Rainer Wiewrodt, Andrea Luecke, Ernst Rodermann, Andreas Diel, Volker Hagen, Kai Severin, Roland T Ullrich, Hans Christian Reinhardt, Alexander Quaas, Magdalena Bogus, Cornelius Courts, Peter Nürnberg, Kerstin Becker, Viktor Achter, Reinhard Buttner, Jürgen Wolf, Martin Peifer, Roman K Thomas
Evolutionary trajectories of small cell lung cancer under therapy. Nature 627 (8005) (2024)
Hafiza Noor Ul Ayan, Pir Sheraz Ali, Asad Aslam Korejo, Holger Thiele, Peter Nürnberg, Muhammad Tariq, Syed Zahid Jamal, Jeanette Erdmann, Ilyas Ahmad
Homozygous frameshift variant in desmoglein-2 causes biventricular arrhythmogenic right ventricular cardiomyopathy. Clinical genetics (2023)
Lucas Hoffmann, Roland Coras, Katja Kobow, Javier A López-Rivera, Dennis Lal, Costin Leu, Imad M Najm, Peter Nürnberg, Jochen Herms, Patrick N Harter, Christian G Bien, Thilo Kalbhenn, Markus Müller, Tom Pieper, Till S Hartlieb, Manfred Kudernatsch, Hajo M Hamer, Sebastian Brandner, Karl Roessler, Ingmar Bluemcke, Samir Jabari
Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes. Acta neuropathologica (2023)
Maria Asif, Uzma Abdullah, Peter Nürnberg, Sigrid Tinschert, Muhammad Sajid Hussain
Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly. Cells 12 (4) (2023)
Maria Asif, Uzma Abdullah, Peter Nürnberg, Sigrid Tinschert, Muhammad Sajid Hussain
Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly. Cells 12 (4) (2023)
Lucas Hoffmann, Roland Coras, Katja Kobow, Javier A López-Rivera, Dennis Lal, Costin Leu, Imad M Najm, Peter Nürnberg, Jochen Herms, Patrick N Harter, Christian G Bien, Thilo Kalbhenn, Markus Müller, Tom Pieper, Till S Hartlieb, Manfred Kudernatsch, Hajo M Hamer, Sebastian Brandner, Karl Roessler, Ingmar Bluemcke, Samir Jabari
Correction to: Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes. Acta neuropathologica (2023)
Maria Asif, Uzma Abdullah, Peter Nürnberg, Sigrid Tinschert, Muhammad Sajid Hussain
Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly. Cells 12 (4) (2023)
Lucas Hoffmann, Roland Coras, Katja Kobow, Javier A López-Rivera, Dennis Lal, Costin Leu, Imad M Najm, Peter Nürnberg, Jochen Herms, Patrick N Harter, Christian G Bien, Thilo Kalbhenn, Markus Müller, Tom Pieper, Till S Hartlieb, Manfred Kudernatsch, Hajo M Hamer, Sebastian Brandner, Karl Roessler, Ingmar Bluemcke, Samir Jabari
Correction to: Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes. Acta neuropathologica (2023)
Hafiza Noor Ul Ayan, Pir Sheeraz Ali, Asad Aslam Korejo, Holger Thiele, Peter Nürnberg, Muhammad Tariq, Syed Zahid Jamal, Jeanette Erdmann, Ilyas Ahmad
Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy. Clinical genetics (2023)
Lucas Hoffmann, Roland Coras, Katja Kobow, Javier A López-Rivera, Dennis Lal, Costin Leu, Imad M Najm, Peter Nürnberg, Jochen Herms, Patrick N Harter, Christian G Bien, Thilo Kalbhenn, Markus Müller, Tom Pieper, Till S Hartlieb, Manfred Kudernatsch, Hajo M Hamer, Sebastian Brandner, Karl Roessler, Ingmar Bluemcke, Samir Jabari
Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes. Acta neuropathologica (2023)
Maria Asif, Maryam Anayat, Faiza Tariq, Tanzeela Noureen, Ghulam Naseer Ud Din, Christian Becker, Kerstin Becker, Holger Thiele, Ehtisham Ul Haq Makhdoom, Pakeeza Arzoo Shaiq, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain, Ghazala Kaukab Raja, Uzma Abdullah
Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability. Genes 14 (1) (2022)
Martine Dumont, Nana Weber-Lassalle, Charles Joly-Beauparlant, Corinna Ernst, Arnaud Droit, Bing-Jian Feng, Stéphane Dubois, Annie-Claude Collin-Deschesnes, Penny Soucy, Maxime Vallée, Frédéric Fournier, Audrey Lemaçon, Muriel A Adank, Jamie Allen, Janine Altmüller, Norbert Arnold, Margreet G E M Ausems, Riccardo Berutti, Manjeet K Bolla, Shelley B Bull, Sara Carvalho, Sten Cornelissen, Michael R Dufault, Alison M Dunning, Christoph Engel, Andrea Gehrig, Willemina R R Geurts-Giele, Christian Gieger, Jessica Green, Karl Hackmann, Mohamed Helmy, Julia Hentschel, Frans B L Hogervorst, Antoinette Hollestelle, Maartje J Hooning, Judit Horváth, M Arfan Ikram, Silke Kaulfuß, Renske Keeman, Da Kuang, Craig Luccarini, Wolfgang Maier, John W M Martens, Dieter Niederacher, Peter Nürnberg, Claus-Eric Ott, Annette Peters, Paul D P Pharoah, Alfredo Ramirez, Juliane Ramser, Steffi Riedel-Heller, Gunnar Schmidt, Mitul Shah, Martin Scherer, Antje Stäbler, Tim M Strom, Christian Sutter, Holger Thiele, Christi J van Asperen, Lizet van der Kolk, Rob B van der Luijt, Alexander E Volk, Michael Wagner, Quinten Waisfisz, Qin Wang, Shan Wang-Gohrke, Bernhard Heinrich Friedrich Weber, null Genome Of The Netherlands Project, null Ghs Study Group, Peter Devilee, Sean Tavtigian, Gary D Baider, Alfons Meindl, David E Goldgar, Irene L Andrulis, Rita K Schmutzler, Douglas F Easton, Marjanka K Schmidt, Eric Hahnen, Jacques Simard
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. Cancers 14 (14) (2022)
Keit Men Wong, Wayne M Jepsen, Stephanie Efthymiou, Vincenzo Salpietro, Meredith Sanchez-Castillo, Janice Yip, Yamna Kriouile, Susann Diegmann, Steffi Dreha-Kulaczewski, Janine Altmüller, Holger Thiele, Peter Nürnberg, Mehran Beiraghi Toosi, Javad Akhondian, Ehsan Ghayoor Karimiani, Hannah Hummel-Abmeier, Brenda Huppke, Henry Houlden, Jutta Gärtner, Reza Maroofian, Peter Huppke
Mutations in TAF8 cause a neurodegenerative disorder. Brain : a journal of neurology 145 (9) (2022)
D Thomalla, Laura Beckmann, Christina Grimm, Matteo Oliverio, L Meder, C D Herling, P Nieper, T Feldmann, O Merkel, E Lorsy, A da Palma Guerreiro, J von Jan, Ilmars Kisis, E Wasserburger, J Claasen, E Faitschuk-Meyer, Janine Altmüller, Peter Nürnberg, T-P Yang, Matthias Lienhard, Ralf Herwig, K-A Kreuzer, C P Pallasch, R Büttner, S C Schäfer, J Hartley, Hinrich Abken, Martin Peifer, H Kashkar, Gero Knittel, B Eichhorst, R T Ullrich, M Herling, H C Reinhardt, M Hallek, M R Schweiger, L P Frenzel
Deregulation and epigenetic modification of BCL2-family genes cause resistance to venetoclax in hematologic malignancies. Blood 140 (20) (2022)
Maria Asif, Maryam Anayat, Faiza Tariq, Tanzeela Noureen, Ghulam Naseer Ud Din, Christian Becker, Kerstin Becker, Holger Thiele, Ehtisham Ul Haq Makhdoom, Pakeeza Arzoo Shaiq, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain, Ghazala Kaukab Raja, Uzma Abdullah
Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability. Genes 14 (1) (2022)
Maria Asif, Maryam Anayat, Faiza Tariq, Tanzeela Noureen, Ghulam Naseer Ud Din, Christian Becker, Kerstin Becker, Holger Thiele, Ehtisham Ul Haq Makhdoom, Pakeeza Arzoo Shaiq, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain, Ghazala Kaukab Raja, Uzma Abdullah
Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability. Genes 14 (1) (2022)
Maria Asif, Maryam Anayat, Faiza Tariq, Tanzeela Noureen, Ghulam Naseer Ud Din, Christian Becker, Kerstin Becker, Holger Thiele, Ehtisham Ul Haq Makhdoom, Pakeeza Arzoo Shaiq, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain, Ghazala Kaukab Raja, Uzma Abdullah
Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability. Genes 14 (1) (2022)
Muriel Rolfes, Julika Borde, Kathrin Möllenhoff, Mohamad Kayali, Corinna Ernst, Andrea Gehrig, Christian Sutter, Juliane Ramser, Dieter Niederacher, Judit Horváth, Norbert Arnold, Alfons Meindl, Bernd Auber, Andreas Rump, Shan Wang-Gohrke, Julia Ritter, Julia Hentschel, Holger Thiele, Janine Altmüller, Peter Nürnberg, Kerstin Rhiem, Christoph Engel, Barbara Wappenschmidt, Rita K Schmutzler, Eric Hahnen, Jan Hauke
Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancers 14 (13) (2022)
Ehtisham Ul Haq Makhdoom, Syeda Seema Waseem, Maria Iqbal, Uzma Abdullah, Ghulam Hussain, Maria Asif, Birgit Budde, Wolfgang Höhne, Sigrid Tinschert, Saadia Maryam Saadi, Hammad Yousaf, Zafar Ali, Ambrin Fatima, Emrah Kaygusuz, Ayaz Khan, Muhammad Jameel, Sheraz Khan, Muhammad Tariq, Iram Anjum, Janine Altmüller, Holger Thiele, Stefan Höning, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain
Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ. Genes 12 (5) (2021)
Emrah Kaygusuz, Arwa Ishaq A Khayyat, Uzma Abdullah, Birgit Susanne Budde, Maria Asif, Ilyas Ahmed, Ehtisham Ul Haq Makhdoom, Ilknur Sur-Erdem, Jamshaid Mahmood Baig, Muhammad Mohsin Ali Khan, Mohammad Reza Toliat, Christian Becker, Haseeb Anwar, Maria Iqbal, Sarah Fischer, Muhammad Jameel, Muhammad Sher, Muhammad Tariq, Naveed Altaf Malik, Angelika A Noegel, Muhammad Jawad Hassan, Holger Thiele, Sigrid Tinschert, Ludwig Eichinger, Stefan Höning, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain
A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Clinical genetics 100 (4) (2021)
Agnieszka Gizak, Susann Diegmann, Steffi Dreha-Kulaczewski, Janusz Wiśniewski, Przemysław Duda, Andreas Ohlenbusch, Brenda Huppke, Marco Henneke, Wolfgang Höhne, Janine Altmüller, Holger Thiele, Peter Nürnberg, Dariusz Rakus, Jutta Gärtner, Peter Huppke
A novel remitting leukodystrophy associated with a variant in FBP2. Brain communications 3 (2) (2021)
Shafaq Ramzan, Stephanie Tennstedt, Muhammad Tariq, Sheraz Khan, Hafiza Noor Ul Ayan, Aamir Ali, Matthias Munz, Holger Thiele, Asad Aslam Korejo, Abdul Razzaq Mughal, Syed Zahid Jamal, Peter Nürnberg, Shahid Mahmood Baig, Jeanette Erdmann, Ilyas Ahmad
A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family. Genes 12 (8) (2021)
Natalie Young, Maria Asif, Matthew Jackson, Daniel Martín Fernández-Mayoralas, Mar Jimenez de la Peña, Beatriz Calleja-Pérez, Sara Álvarez, Eve Hunter-Featherstone, Angelika A Noegel, Wolfgang Höhne, Peter Nürnberg, Boguslaw Obara, Muhammad Sajid Hussain, Iakowos Karakesisoglou, Alberto Fernández Jaén
Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism. Genes 12 (9) (2021)
Dulce Lima Cunha, Amanda Oram, Robert Gruber, Roswitha Plank, Arno Lingenhel, Manoj K Gupta, Janine Altmüller, Peter Nürnberg, Matthias Schmuth, Johannes Zschocke, Tomo Šarić, Katja M Eckl, Hans Christian Hennies
hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers. International journal of molecular sciences 22 (4) (2021)
Syeda Seema Waseem, Abubakar Moawia, Birgit Budde, Muhammad Tariq, Ayaz Khan, Zafar Ali, Sheraz Khan, Maria Iqbal, Naveed Altaf Malik, Saif Ul Haque, Janine Altmüller, Holger Thiele, Muhammad Sajid Hussain, Sebahattin Cirak, Shahid Mahmood Baig, Peter Nürnberg
A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family. Genes 12 (10) (2021)
Eszter Balogh, Jennifer C Chandler, Máté Varga, Mona Tahoun, Dóra K Menyhárd, Gusztáv Schay, Tomas Goncalves, Renáta Hamar, Regina Légrádi, Ákos Szekeres, Olivier Gribouval, Robert Kleta, Horia Stanescu, Detlef Bockenhauer, Andrea Kerti, Hywel Williams, Veronica Kinsler, Wei-Li Di, David Curtis, Maria Kolatsi-Joannou, Hafsa Hammid, Anna Szőcs, Kristóf Perczel, Erika Maka, Gergely Toldi, Florentina Sava, Christelle Arrondel, Magdolna Kardos, Attila Fintha, Ahmed Hossain, Felice D'Arco, Marios Kaliakatsos, Jutta Koeglmeier, William Mifsud, Mariya Moosajee, Ana Faro, Eszter Jávorszky, Gábor Rudas, Marwa H Saied, Salah Marzouk, Kata Kelen, Judit Götze, George S Reusz, Tivadar Tulassay, François Dragon, Geraldine Mollet, Susanne Motameny, Holger Thiele, Guillaume Dorval, Peter Nürnberg, András Perczel, Attila J Szabo, David A Long, Kazunori Tomita, Corinne Antignac, Aoife M Waters, Kálmán Tory
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proceedings of the National Academy of Sciences of the United States of America 117 (26) (2020)
Birgit S Budde, Maha Abdelgaber Aly, Mostafa R Mohamed, Andreas Breß, Janine Altmüller, Susanne Motameny, Amit Kawalia, Holger Thiele, Kathryn Konrad, Christian Becker, Mohammad R Toliat, Gudrun Nürnberg, Eman Abdel Fattah Sayed, Enass Sayed Mohamed, Markus Pfister, Peter Nürnberg
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss. Clinical genetics 98 (1) (2020)
Sandra Ackermann, Maria Cartolano, Barbara Hero, Anne Welte, Yvonne Kahlert, Andrea Roderwieser, Christoph Bartenhagen, Esther Walter, Judith Gecht, Laura Kerschke, Ruth Volland, Roopika Menon, Johannes M Heuckmann, Moritz Gartlgruber, Sabine Hartlieb, Kai-Oliver Henrich, Konstantin Okonechnikov, Janine Altmüller, Peter Nürnberg, Steve Lefever, Bram De Wilde, Frederik Sand, Fakhera Ikram, Carolina Rosswog, Janina Fischer, Jessica Theissen, Falk Hertwig, Aatur D Singhi, Thorsten Simon, Wenzel Vogel, Sven Perner, Barbara Krug, Matthias Schmidt, Sven Rahmann, Viktor Achter, Ulrich Lang, Christian Vokuhl, Monika Ortmann, Reinhard Büttner, Angelika Eggert, Frank Speleman, Roderick J O'Sullivan, Roman K Thomas, Frank Berthold, Jo Vandesompele, Alexander Schramm, Frank Westermann, Johannes H Schulte, Martin Peifer, Matthias Fischer
A mechanistic classification of clinical phenotypes in neuroblastoma. Science (New York, N.Y.) 362 (6419) (2019)
Dominika Oziębło, Anna Sarosiak, Marcin Ludwik Leja, Birgit S Budde, Grażyna Tacikowska, Nataliya Di Donato, Hanno J Bolz, Peter Nürnberg, Henryk Skarzynski, Monika Ołdak
First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene. Journal of translational medicine 17 (1) (2019)
Zohreh Mehrjoo, Zohreh Fattahi, Maryam Beheshtian, Marzieh Mohseni, Hossein Poustchi, Fariba Ardalani, Khadijeh Jalalvand, Sanaz Arzhangi, Zahra Mohammadi, Shahrouz Khoshbakht, Farid Najafi, Pooneh Nikuei, Mohammad Haddadi, Elham Zohrehvand, Morteza Oladnabi, Akbar Mohammadzadeh, Mandana Hadi Jafari, Tara Akhtarkhavari, Ehsan Shamsi Gooshki, Aliakbar Haghdoost, Reza Najafipour, Lisa-Marie Niestroj, Barbara Helwing, Yasmina Gossmann, Mohammad Reza Toliat, Reza Malekzadeh, Peter Nürnberg, Kimia Kahrizi, Hossein Najmabadi, Michael Nothnagel
Distinct genetic variation and heterogeneity of the Iranian population. PLoS genetics 15 (9) (2019)
Kamel Jabbari, Dheeraj R Bobbili, Dennis Lal, Eva M Reinthaler, Julian Schubert, Stefan Wolking, Vishal Sinha, Susanne Motameny, Holger Thiele, Amit Kawalia, Janine Altmüller, Mohammad Reza Toliat, Robert Kraaij, Jeroen G J van Rooij, André G Uitterlinden, Mohammad Arfan Ikram, null null, Federico Zara, Anna-Elina Lehesjoki, Roland Krause, Fritz Zimprich, Thomas Sander, Bernd A Neubauer, Patrick May, Holger Lerche, Peter Nürnberg
Rare gene deletions in genetic generalized and Rolandic epilepsies. PloS one 13 (8) (2018)

Peter Nürnberg.css-eqlu8i{font-size:small;padding-left:4px;} (P Nürnberg)

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Peter Nürnberg (P Nürnberg)