Uwe Kornak

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 26

Top Venues

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Human genetics

Nature genetics

Human genomics

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

Publications

Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human genetics 143 (5) (2024)
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 Lisa Sczakiel, Sarina Schwartzmann, Martin Atta 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 Schuelke, Hoa 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, Nasir Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Meghna Ahuja Basin, Pietro Incardona, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, 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 Muntau, Alexandra Tibelius, Eva Maria Christina Schwaibold, Christian P Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M Okun, Urania Kotzaeridou, Georg F Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje G Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik Sebastian Westphal, Tim Strom, Reka Kovacs, Korbinian Maria Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Katharina Vill, Fabian H Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Ernest Turro, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Maria Nöthen, Olaf H Rieß, Thomas Meitinger, Heiko Krude, Peter M Krawitz, Tobias B Haack, Nadja Ehmke, Matias Wagner
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. Nature genetics (2024)
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 Lisa Sczakiel, Sarina Schwartzmann, Martin Atta 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 Schuelke, Hoa 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, Nasir Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Meghna Ahuja Basin, Pietro Incardona, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, 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 Muntau, Alexandra Tibelius, Eva Maria Christina Schwaibold, Christian P Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M Okun, Urania Kotzaeridou, Georg F Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje G Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik Sebastian Westphal, Tim Strom, Reka Kovacs, Korbinian Maria Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Katharina Vill, Fabian H Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Ernest Turro, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Maria Nöthen, Olaf H Rieß, Thomas Meitinger, Heiko Krude, Peter M Krawitz, Tobias B Haack, Nadja Ehmke, Matias Wagner
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. Nature genetics 56 (8) (2024)
Asuman Koparir, Caroline Lekszas, Kemal Keseroğlu, Thalia Rose, Lena Rappl, Aboulfazl Rad, Reza Maroofian, Nakul Narendran, Atefeh Hasanzadeh, Ehsan Ghayoor Karimiani, Felix Boschann, Uwe Kornak, Eva Klopocki, Ertuğrul M Özbudak, Barbara Vona, Thomas Haaf, Daniel Liedtke
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome. Human genomics 18 (1) (2024)
Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human genetics (2024)
Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human genetics 143 (5) (2024)
Asuman Koparir, Caroline Lekszas, Kemal Keseroğlu, Thalia Rose, Lena Rappl, Aboulfazl Rad, Reza Maroofian, Nakul Narendran, Atefeh Hasanzadeh, Ehsan Ghayoor Karimiani, Felix Boschann, Uwe Kornak, Eva Klopocki, Ertuğrul M Özbudak, Barbara Vona, Thomas Haaf, Daniel Liedtke
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome. Human genomics 18 (1) (2024)
Asuman Koparir, Caroline Lekszas, Kemal Keseroğlu, Thalia Rose, Lena Rappl, Aboulfazl Rad, Reza Maroofian, Nakul Narendran, Atefeh Hasanzadeh, Ehsan Ghayoor Karimiani, Felix Boschann, Uwe Kornak, Eva Klopocki, Ertuğrul M Özbudak, Barbara Vona, Thomas Haaf, Daniel Liedtke
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome. Human genomics 18 (1) (2024)
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 Lisa Sczakiel, Sarina Schwartzmann, Martin Atta 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 Schuelke, Hoa 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, Nasir Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Meghna Ahuja Basin, Pietro Incardona, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, 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 Muntau, Alexandra Tibelius, Eva Maria Christina Schwaibold, Christian P Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M Okun, Urania Kotzaeridou, Georg F Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje G Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik Sebastian Westphal, Tim Strom, Reka Kovacs, Korbinian Maria Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Katharina Vill, Fabian H Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Ernest Turro, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Maria Nöthen, Olaf H Rieß, Thomas Meitinger, Heiko Krude, Peter M Krawitz, Tobias B Haack, Nadja Ehmke, Matias Wagner
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. Nature genetics 56 (8) (2024)
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 Lisa Sczakiel, Sarina Schwartzmann, Martin Atta 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 Schuelke, Hoa 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, Nasir Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Meghna Ahuja Basin, Pietro Incardona, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, 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 Muntau, Alexandra Tibelius, Eva Maria Christina Schwaibold, Christian P Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M Okun, Urania Kotzaeridou, Georg F Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje G Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik Sebastian Westphal, Tim Strom, Reka Kovacs, Korbinian Maria Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Katharina Vill, Fabian H Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Ernest Turro, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Maria Nöthen, Olaf H Rieß, Thomas Meitinger, Heiko Krude, Peter M Krawitz, Tobias B Haack, Nadja Ehmke, Matias Wagner
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. Nature genetics 56 (8) (2024)
Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human genetics 143 (5) (2024)
Johannes Kopp, Leonard A Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Érika Dayane Leal Rodrigues, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human genetics 143 (5) (2024)
Sarah Hochmann, Kristy Ou, Rodolphe Poupardin, Michaela Mittermeir, Martin Textor, Salaheddine Ali, Martin Wolf, Agnes Ellinghaus, Dorit Jacobi, Juri A J Elmiger, Samantha Donsante, Mara Riminucci, Richard Schäfer, Uwe Kornak, Oliver Klein, Katharina Schallmoser, Katharina Schmidt-Bleek, Georg N Duda, Julia K Polansky, Sven Geissler, Dirk Strunk
The enhancer landscape predetermines the skeletal regeneration capacity of stromal cells. Science translational medicine 15 (688) (2023)
Sarah Hochmann, Kristy Ou, Rodolphe Poupardin, Michaela Mittermeir, Martin Textor, Salaheddine Ali, Martin Wolf, Agnes Ellinghaus, Dorit Jacobi, Juri A J Elmiger, Samantha Donsante, Mara Riminucci, Richard Schäfer, Uwe Kornak, Oliver Klein, Katharina Schallmoser, Katharina Schmidt-Bleek, Georg N Duda, Julia K Polansky, Sven Geissler, Dirk Strunk
The enhancer landscape predetermines the skeletal regeneration capacity of stromal cells. Science translational medicine 15 (688) (2023)
Xingfan Huang, Jana Henck, Chengxiang Qiu, Varun K A Sreenivasan, Saranya Balachandran, Oana Veronica Amarie, Martin Hrabě de Angelis, Rose Yinghan Behncke, Wing-Lee Chan, Alexandra Despang, Diane E Dickel, Madeleine Duran, Annette Feuchtinger, Helmut Fuchs, Valérie Gailus-Durner, Natja Haag, Rene Hägerling, Nils Rouven Hansmeier, Friederike Hennig, Cooper Marshall, Sudha Sunil Rajderkar, Alessa Ringel, Michael I Robson, Lauren M Saunders, Patricia da Silva-Buttkus, Nadine Spielmann, Sanjay R Srivatsan, Sascha Ulferts, Lars Wittler, Yiwen Zhu, Vera M Kalscheuer, Daniel M Ibrahim, Ingo Kurth, Uwe Kornak, Axel Visel, Len A Pennacchio, David R Beier, Cole Trapnell, Junyue Cao, Jay Shendure, Malte Spielmann
Single-cell, whole-embryo phenotyping of mammalian developmental disorders. Nature (2023)
Alice Costantini, Riikka E Makitie, Markus A Hartmann, Nadja Fratzl-Zelman, M Carola Zillikens, Uwe Kornak, Kent Søe, Outimaija Mäkitie
Early-Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 37 (9) (2022)
Julian Stürznickel, Fiona Heider, Alena Delsmann, Markus Gödel, Johannes Grünhagen, Tobias B Huber, Uwe Kornak, Michael Amling, Ralf Oheim
Clinical Spectrum of Hereditary Hypophosphatemic Rickets With Hypercalciuria (HHRH). Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 37 (8) (2022)
Ralf Oheim, Elena Tsourdi, Lothar Seefried, Gisela Beller, Max Schubach, Eik Vettorazzi, Julian Stürznickel, Tim Rolvien, Nadja Ehmke, Alena Delsmann, Franca Genest, Ulrike Krüger, Tomasz Zemojtel, Florian Barvencik, Thorsten Schinke, Franz Jakob, Lorenz C Hofbauer, Stefan Mundlos, Uwe Kornak
Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders. The Journal of clinical endocrinology and metabolism 107 (7) (2022)
Guido Vogt, Sarah Verheyen, Sarina Schwartzmann, Nadja Ehmke, Cornelia Potratz, Anette Schwerin-Nagel, Barbara Plecko, Manuel Holtgrewe, Dominik Seelow, Jasmin Blatterer, Michael R Speicher, Uwe Kornak, Denise Horn, Stefan Mundlos, Björn Fischer-Zirnsak, Felix Boschann
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive. Journal of medical genetics (2021)
Uta Rössler, Anna Floriane Hennig, Nina Stelzer, Shroddha Bose, Johannes Kopp, Kent Søe, Lukas Cyganek, Giovanni Zifarelli, Salaheddine Ali, Maja von der Hagen, Elisabeth Tamara Strässler, Gabriele Hahn, Michael Pusch, Tobias Stauber, Zsuzsanna Izsvák, Manfred Gossen, Harald Stachelscheid, Uwe Kornak
Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 36 (8) (2021)
Guido Vogt, Naji El Choubassi, Ágnes Herczegfalvi, Heike Kölbel, Anja Lekaj, Ulrike Schara, Manuel Holtgrewe, Sabine Krause, Rita Horvath, Markus Schuelke, Christoph Hübner, Stefan Mundlos, Andreas Roos, Hanns Lochmüller, Veronika Karcagi, Uwe Kornak, Björn Fischer-Zirnsak
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. Journal of inherited metabolic disease 44 (4) (2021)
Julian Stürznickel, Katharina Jähn, Jozef Zustin, Floriane Hennig, Maximilian M Delsmann, Katharina Schoner, Helga Rehder, Alfons Kreczy, Thorsten Schinke, Michael Amling, Uwe Kornak, Ralf Oheim
Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 36 (6) (2021)
Julian Stürznickel, Tim Rolvien, Alena Delsmann, Sebastian Butscheidt, Florian Barvencik, Stefan Mundlos, Thorsten Schinke, Uwe Kornak, Michael Amling, Ralf Oheim
Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early-Onset Osteoporosis (EOOP). Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 36 (2) (2020)
Antonia Howaldt, Anna Floriane Hennig, Tim Rolvien, Uta Rössler, Nina Stelzer, Alexej Knaus, Sebastian Böttger, Jozef Zustin, Sven Geissler, Ralf Oheim, Michael Amling, Hans-Peter Howaldt, Uwe Kornak
Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 35 (7) (2020)
Ralf Oheim, Kristin Zimmerman, Nathan D Maulding, Julian Stürznickel, Simon von Kroge, Dillon Kavanagh, Paul R Stabach, Uwe Kornak, Steven M Tommasini, Mark C Horowitz, Michael Amling, David Thompson, Thorsten Schinke, Björn Busse, Thomas O Carpenter, Demetrios T Braddock
Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 35 (3) (2019)
Wing Lee Chan, Magdalena Steiner, Tomasz M Witkos, Johannes Egerer, Björn Busse, Shuji Mizumoto, Jan M Pestka, Haikuo Zhang, Ingrid Hausser, Layal Abo Khayal, Claus-Eric Ott, Mateusz Kolanczyk, Bettina M Willie, Thorsten Schinke, Chiara Paganini, Antonio Rossi, Kazuyuki Sugahara, Michael Amling, Petra Knaus, Danny Chan, Martin Lowe, Stefan Mundlos, Uwe Kornak
Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica. PLoS genetics 14 (3) (2018)

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Publication Activity (10 Years)

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Uwe Kornak