Torthaí cuardaigh - Martin A. Mensah

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  1. 1
    The Genetic Basis of Moyamoya Disease

    The Genetic Basis of Moyamoya Disease de réir Robert Mertens, Mariona Graupera, Holger Gerhardt, Anna Bersano, Elisabeth Tournier‐Lasserve, Martin A. Mensah, Stefan Mundlos, Peter Vajkoczy

    Foilsithe / Cruthaithe 2021
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  2. 2
    Combining callers improves the detection of copy number variants from whole-genome sequencing

    Combining callers improves the detection of copy number variants from whole-genome sequencing de réir Marie Coutelier, Manuel Holtgrewe, Marten Jäger, Ricarda Flöttman, Martin A. Mensah, Malte Spielmann, Peter Krawitz, Denise Horn, Dieter Beule, Stefan Mundlos

    Foilsithe / Cruthaithe 2021
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  3. 3
    Advances in computer‐assisted syndrome recognition by the example of inborn errors of metabolism

    Advances in computer‐assisted syndrome recognition by the example of inborn errors of metabolism de réir Jean Tori Pantel, Max Zhao, Martin A. Mensah, Nurulhuda Hajjir, Tzung‐Chien Hsieh, Yair Hanani, Nicole Fleischer, Tom Kamphans, Stefan Mundlos, Yaron Gurovich, Peter Krawitz

    Foilsithe / Cruthaithe 2018
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  4. 4
    Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

    Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases de réir Uirá Souto Melo, Robert Schöpflin, Rocío Acuña‐Hidalgo, Martin A. Mensah, Björn Fischer‐Zirnsak, Manuel Holtgrewe, Marius-Konstantin Klever, Seval Türkmen, Verena Heinrich, Ilina D. Pluym, Eunice Matoso, Sérgio B. Sousa, Pedro Louro, Wiebke Hülsemann, Monika Cohen, Andreas Dufke, Anna Latos‐Bieleńska, Martin Vingron, Vera M. Kalscheuer, Fabiola Quintero‐Rivera, Malte Spielmann, Stefan Mundlos

    Foilsithe / Cruthaithe 2020
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  5. 5
    Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

    Aberrant phase separation and nucleolar dysfunction in rare genetic diseases de réir Martin A. Mensah, Henri Niskanen, Alexandre P. Magalhães, Shaon Basu, Martin Kircher, Henrike L. Sczakiel, Alisa Maria Vittoria Reiter, Jonas Elsner, Peter Meinecke, Saskia Biskup, Brian Hon‐Yin Chung, Gregor Dombrowsky, Christel Eckmann-Scholz, Marc‐Phillip Hitz, Alexander Hoischen, Paul‐Martin Holterhus, Wiebke Hülsemann, Kimia Kahrizi, Vera M. Kalscheuer, Anita Sik Yau Kan, Mandy Krumbiegel, Ingo Kurth, Jonas Leubner, Ann Carolin Longardt, Jörg Detlev Moritz, Hossein Najmabadi, Karolina Skipalova, Lot Snijders Blok, Andreas Tzschach, Eberhard Wiedersberg, Martin Zenker, Carla Garcia‐Cabau, René Buschow, Xavier Salvatella, Matthew L. Kraushar, Stefan Mundlos, Almuth Caliebe, Malte Spielmann, Denise Horn, Denes Hnisz

    Foilsithe / Cruthaithe 2023
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  6. 6
    GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

    GestaltMatcher facilitates rare disease matching using facial phenotype descriptors de réir Tzung‐Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, Nadja Ehmke, Karen W. Gripp, Jean Tori Pantel, Magdalena Danyel, Martin A. Mensah, Denise Horn, Stanislav Rosnev, Nicole Fleischer, Guilherme Bonini, Alexander Hustinx, Alexander Schmid, Alexej Knaus, Behnam Javanmardi, Hannah Klinkhammer, Hellen Lesmann, Sugirthan Sivalingam, Tom Kamphans, Wolfgang Meiswinkel, Frédéric Ebstein, Elke Krüger, Sébastien Küry, Stéphane Bézieau, Axel Schmidt, Sophia Peters, Hartmut Engels, Elisabeth Mangold, Martina Kreiß, Kirsten Cremer, Claudia Perne, Regina C. Betz, Tim Bender, Kathrin Grundmann‐Hauser, Tobias B. Haack, Matias Wagner, Theresa Brunet, Heidi Beate Bentzen, Luisa Averdunk, Kimberly Christine Coetzer, Gholson J. Lyon, Malte Spielmann, Christian P. Schaaf, Stefan Mundlos, Markus M. Nöthen, Peter Krawitz

    Foilsithe / Cruthaithe 2022
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  7. 7
    PEDIA: prioritization of exome data by image analysis

    PEDIA: prioritization of exome data by image analysis de réir Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel, Dione Aguilar, Omri Bar, Allan Bayat, Luis E. Becerra-Solano, Heidi Beate Bentzen, Saskia Biskup, Oleg Borisov, Øivind Braaten, Claudia Ciaccio, Marie Coutelier, Kirsten Cremer, Magdalena Danyel, Svenja Daschkey, Hilda David Eden, Koenraad Devriendt, Sandra Wilson, Sofia Douzgou, Dejan Đukić, Nadja Ehmke, Christine Fauth, Björn Fischer‐Zirnsak, Nicole Fleischer, Heinz Gabriel, Luitgard Graul‐Neumann, Karen W. Gripp, Yaron Gurovich, А.А. Гусина, Nechama Haddad, Nurulhuda Hajjir, Yair Hanani, Jakob Hertzberg, Konstanze Hoertnagel, Janelle Howell, Ivan Ivanovski, Angela M. Kaindl, Tom Kamphans, Susanne Kamphausen, Catherine Karimov, Hadil Kathom, Anna Keryan, Alexej Knaus, Sebastian Köhler, Uwe Kornak, А. В. Лавров, Maximilian Leitheiser, Gholson J. Lyon, Elisabeth Mangold, Purificación Marín Reina, Antonio Martínez Carrascal, Diana Mitter, Laura Morlán Herrador, Guy Nadav, Markus M. Nöthen, Alfredo Orrico, Claus‐Eric Ott, Kristen Park, Borut Peterlin, Laura Pölsler, Annick Raas‐Rothschild, Linda M. Randolph, Nicole Revençu, Christina Fagerberg, Peter Nick Robinson, Stanislav Rosnev, Sabine Rudnik, Goražd Rudolf, Ulrich A. Schatz, Anna Schossig, Max Schubach, Or Shanoon, Eamonn Sheridan, Pola Smirin‐Yosef, Malte Spielmann, Eun-Kyung Suk, Yves Sznajer, Christian T. Thiel, Gundula Thiel, Alain Verloès, Irena Vrečar, Dagmar Wahl, Ingrid Weber, Korina Winter, Marzena Wiśniewska, Bernd Wollnik, Ming Wai Yeung, Max Zhao, Na Zhu, Johannes Zschocke, Stefan Mundlos, Denise Horn, Peter Krawitz

    Foilsithe / Cruthaithe 2019
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  8. 8
    Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

    Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings de réir Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike L. Sczakiel, Sarina Schwartzmann, Martin A. Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude‐Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M. Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus‐Eric Ott, Markus Schülke, Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiß, Kirsten Cremer, Regina C. Betz, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Isabel Spier, André Heimbach, Tim Bender, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin Sebastian Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro‐Gomez, Ahmad Aziz, Marcus Grobe‐Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Paweł Tacik, Meghna Ahuja Basin, Pietro Incardona, Min Ae Lee‐Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, A. Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J. Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Cordula Kiewert, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler‐Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania C. Muntau, Alexandra Tibelius, Eva Maria Christina Schwaibold, Christian P. Schaaf, Michal Zawada

    Foilsithe / Cruthaithe 2024
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