Johannes R Lemke

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 44

Top Venues

European journal of human genetics : EJHG

Brain : a journal of neurology

Nature genetics

Nature communications

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

Publications

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)
Adam Benjamin Rohrlach, Maïté Rivollat, Maria Paz de Miguel Ibáñez, Ulla Moilanen, Anne-Mari Liira, João C Teixeira, Xavier Roca-Rada, Javier Armendáriz-Martija, Kamen Boyadzhiev, Yavor Boyadzhiev, Bastien Llamas, Anthi Tiliakou, Angela Mötsch, Jonathan Tuke, Eleni-Anna Prevedorou, Naya Polychronakou-Sgouritsa, Jane E Buikstra, Päivi Onkamo, Philipp W Stockhammer, Henrike O Heyne, Johannes R Lemke, Roberto Risch, Stephan Schiffels, Johannes Krause, Wolfgang Haak, Kay Prüfer
Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA. Nature communications 15 (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)
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)
Adam Benjamin Rohrlach, Maïté Rivollat, Maria Paz de Miguel Ibáñez, Ulla Moilanen, Anne-Mari Liira, João C Teixeira, Xavier Roca-Rada, Javier Armendáriz-Martija, Kamen Boyadzhiev, Yavor Boyadzhiev, Bastien Llamas, Anthi Tiliakou, Angela Mötsch, Jonathan Tuke, Eleni-Anna Prevedorou, Naya Polychronakou-Sgouritsa, Jane E Buikstra, Päivi Onkamo, Philipp W Stockhammer, Henrike O Heyne, Johannes R Lemke, Roberto Risch, Stephan Schiffels, Johannes Krause, Wolfgang Haak, Kay Prüfer
Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA. Nature communications 15 (1) (2024)
Adam Benjamin Rohrlach, Maïté Rivollat, Maria Paz de Miguel Ibáñez, Ulla Moilanen, Anne-Mari Liira, João C Teixeira, Xavier Roca-Rada, Javier Armendáriz-Martija, Kamen Boyadzhiev, Yavor Boyadzhiev, Bastien Llamas, Anthi Tiliakou, Angela Mötsch, Jonathan Tuke, Eleni-Anna Prevedorou, Naya Polychronakou-Sgouritsa, Jane E Buikstra, Päivi Onkamo, Philipp W Stockhammer, Henrike O Heyne, Johannes R Lemke, Roberto Risch, Stephan Schiffels, Johannes Krause, Wolfgang Haak, Kay Prüfer
Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA. Nature communications 15 (1) (2024)
Adam Benjamin Rohrlach, Maïté Rivollat, Maria Paz de Miguel Ibáñez, Ulla Moilanen, Anne-Mari Liira, João C Teixeira, Xavier Roca-Rada, Javier Armendáriz-Martija, Kamen Boyadzhiev, Yavor Boyadzhiev, Bastien Llamas, Anthi Tiliakou, Angela Mötsch, Jonathan Tuke, Eleni-Anna Prevedorou, Naya Polychronakou-Sgouritsa, Jane E Buikstra, Päivi Onkamo, Philipp W Stockhammer, Henrike O Heyne, Johannes R Lemke, Roberto Risch, Stephan Schiffels, Johannes Krause, Wolfgang Haak, Kay Prüfer
Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA. Nature communications 15 (1) (2024)
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Sandra Whalen, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Benedikt Schoser, Sebastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Hallie E Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Chrisodoulou, Wendy K Chung, Rose E Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Suri Mohnish, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain : a journal of neurology (2023)
Marie Macnee, Eduardo Pérez-Palma, Tobias Brünger, Chiara Klöckner, Konrad Platzer, Arthur Stefanski, Ludovica Montanucci, Allan Bayat, Maximilian Radtke, Ryan L Collins, Michael Talkowski, Daniel Blankenberg, Rikke S Møller, Johannes R Lemke, Michael Nothnagel, Patrick May, Dennis Lal
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online. Bioinformatics (Oxford, England) 39 (5) (2023)
Berardo Rinaldi, Allan Bayat, Linda G Zachariassen, Jia-Hui Sun, Yu-Han Ge, Dan Zhao, Kristine Bonde, Laura H Madsen, Ilham Abdimunim Ali Awad, Duygu Bagiran, Amal Sbeih, Syeda Maidah Shah, Shaymaa El-Sayed, Signe M Lyngby, Miriam G Pedersen, Charlotte Stenum-Berg, Louise Claudia Walker, Ilona Krey, Andrée Delahaye-Duriez, Lisa T Emrick, Krystal Sully, Chaya N Murali, Lindsay C Burrage, Julie Ana Plaud Gonzalez, Mered Parnes, Jennifer Friedman, Bertrand Isidor, Jérémie Lefranc, Sylvia Redon, Delphine Heron, Cyril Mignot, Boris Keren, Mélanie Fradin, Christele Dubourg, Sandra Mercier, Thomas Besnard, Benjamin Cogne, Wallid Deb, Clotilde Rivier, Donatella Milani, Maria Francesca Bedeschi, Claudia Di Napoli, Federico Grilli, Paola Marchisio, Suzanna Koudijs, Danielle Veenma, Emanuela Argilli, Sally Ann Lynch, Ping Yee Billie Au, Fernando Eduardo Ayala Valenzuela, Carolyn Brown, Diane Masser-Frye, Marilyn Jones, Leslie Patron Romero, Wenhui Laura Li, Erin Thorpe, Laura Hecher, Jessika Johannsen, Jonas Denecke, Vanda McNiven, Anna Szuto, Emma Wakeling, Vincent Cruz, Valerie Sency, Heng Wang, Juliette Piard, Fanny Kortüm, Theresia Herget, Tatjana Bierhals, Angelo Condell, Bruria Ben Zeev, Simranpreet Kaur, John Chrisodoulou, Amelie Piton, Christiane Zweier, Cornelia Kraus, Alessia Micalizzi, Marina Trivisano, Nicola Specchio, Gaetan Lesca, Rikke Steensjerre Moller, Zeynep Tümer, Maria Musgaard, Benedicte Gerard, Johannes R Lemke, Yun Stone Shi, Anders S Kristensen
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. Brain : a journal of neurology (2023)
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Sandra Whalen, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Benedikt Schoser, Sebastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Hallie E Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Chrisodoulou, Wendy K Chung, Rose E Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Suri Mohnish, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain : a journal of neurology (2023)
Henry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, Christina A Gurnett, Anne Marie Jelsig, Susanne H Vineke, Bertrand Isidor, Sandra Mercier, Kari Magnussen, Pia Zacher, Mona Hashim, Alistair T Pagnamenta, Simone Race, Siddharth Srivastava, Zoë Frazier, Robert Maiwald, Matthias Pergande, Donatella Milani, Martina Rinelli, Jonathan Levy, Ilona Krey, Paolo Fontana, Fortunato Lonardo, Stephanie Riley, Jasmine Kretzer, Julia Rankin, Linda M Reis, Elena V Semina, Miriam S Reuter, Stephen W Scherer, Maria Iascone, Denisa Weis, Christina R Fagerberg, Charlotte Brasch-Andersen, Lars Kjaersgaard Hansen, Alma Kuechler, Nathan Noble, Alice Gardham, Jessica Tenney, Geetanjali Rathore, Stefanie Beck-Woedl, Tobias B Haack, Despoina C Pavlidou, Isis Atallah, Julia Vodopiutz, Andreas R Janecke, Tzung-Chien Hsieh, Hellen Lesmann, Hannah Klinkhammer, Peter M Krawitz, Johannes R Lemke, Rami Abou Jamra, Marta Nieto, Zeynep Tümer, Konrad Platzer
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology. European journal of human genetics : EJHG (2023)
Chad R Camp, Anna Vlachos, Chiara Klöckner, Ilona Krey, Tue G Banke, Nima Shariatzadeh, Sarah M Ruggiero, Peter Galer, Kristen L Park, Adam Caccavano, Sarah Kimmel, Xiaoqing Yuan, Hongjie Yuan, Ingo Helbig, Tim A Benke, Johannes R Lemke, Kenneth A Pelkey, Chris J McBain, Stephen F Traynelis
Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons. Communications biology 6 (1) (2023)
Arthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, Ludovica Montanucci, Cornelius Gati, Chiara Klöckner, Katrine Marie Johannesen, Kimberly Goodspeed, Marie Macnee, Alexander T Deng, Ángel Aledo-Serrano, Artem Borovikov, Maina Kava, Arjan M Bouman, M J Hajianpour, Deb K Pal, Marc Engelen, Eveline E O Hagebeuk, Marwan Shinawi, Alexis R Heidlebaugh, Kathryn Oetjens, Trevor L Hoffman, Pasquale Striano, Amanda S Freed, Line Futtrup, Thomas Balslev, Anna Abulí, Leslie Danvoye, Damien Lederer, Tugce Balci, Maryam Nabavi Nouri, Elizabeth Butler, Sarah Drewes, Kalene van Engelen, Katherine B Howell, Jean Khoury, Patrick May, Marena Trinidad, Steven Froelich, Johannes R Lemke, Jacob Tiller, Amber N Freed, Jing Qiong Kang, Arthur Wuster, Rikke S Møller, Dennis Lal
SLC6A1 variant pathogenicity, molecular function, and phenotype: a genetic and clinical analysis. Brain : a journal of neurology (2023)
Helena Martins Custodio, Lisa M Clayton, Ravishankara Bellampalli, Susanna Pagni, Camila V Esguerra, Richard C Caswell, null null, Andreas Brunklaus, Renzo Guerrini, Bobby P C Koeleman, Johannes R Lemke, Rikke S Møller, Ingrid Eileen Scheffer, Sarah Weckhuysen, Federico Zara, Sameer M Zuberi, Karoline B Kuchenbaecker, Simona Balestrini, James D Mills, Sanjay M Sisodiya
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition. Brain : a journal of neurology (2023)
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Sandra Whalen, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Benedikt Schoser, Sebastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Hallie E Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Chrisodoulou, Wendy K Chung, Rose E Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Suri Mohnish, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain : a journal of neurology (2023)
Marie Macnee, Eduardo Pérez-Palma, Tobias Brünger, Chiara Klöckner, Konrad Platzer, Arthur Stefanski, Ludovica Montanucci, Allan Bayat, Maximilian Radtke, Ryan L Collins, Michael Talkowski, Daniel Blankenberg, Rikke S Møller, Johannes R Lemke, Michael Nothnagel, Patrick May, Dennis Lal
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online. Bioinformatics (Oxford, England) 39 (5) (2023)
Kim M Thalwitzer, Jan H Driedger, Julie Xian, Afshin Saffari, Pia Zacher, Bigna Katrin Bölsterli, Sarah McKeown Ruggiero, Katie Rose Sullivan, Alexandre N Datta, Christoph Kellinghaus, Jürgen Althaus, Adelheid Wiemer-Kruel, Andreas van Baalen, Armin Pampel, Michael Alber, Hilde M H Braakman, Otfried M Debus, Jonas Denecke, Elke Hobbiebrunken, Ina Breitweg, Danielle Diehl, Hans Eitel, Janina Gburek-Augustat, Martin Preisel, Jan-Ulrich Schlump, Mirjam Laufs, Dilbar Mammadova, Carsten Wurst, Christine Prager, Christa Löhr-Nilles, Peter Martin, Sven F Garbade, Konrad Platzer, Ira Benkel-Herrenbrueck, Kerstin Egler, Walid Fazeli, Johannes R Lemke, Eva Runkel, Barbara Klein, Tobias Linden, Julian Schröter, Heike Steffeck, Bastian Thies, Florian von Deimling, Sabine Illsinger, Ingo Borggraefe, Georg Classen, Dagmar Wieczorek, Georgia Ramantani, Stefan Kölker, Georg F Hoffmann, Markus Ries, Ingo Helbig, Steffen Syrbe
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1. Neurology (2023)
Wenshu XiangWei, Riley E Perszyk, Nana Liu, Yuchen Xu, Subhrajit Bhattacharya, Gil H Shaulsky, Constance Smith-Hicks, Ali Fatemi, Andrew E Fry, Kate Chandler, Tao Wang, Julie Vogt, Julie S Cohen, Alex R Paciorkowski, Annapurna Poduri, Yuehua Zhang, Shuang Wang, Yuping Wang, Qiongxiang Zhai, Fang Fang, Jie Leng, Kathryn Garber, Scott J Myers, Robin-Tobias Jauss, Kristen L Park, Timothy A Benke, Johannes R Lemke, Hongjie Yuan, Yu-Wu Jiang, Stephen F Traynelis
Clinical and functional consequences of GRIA variants in patients with neurological diseases. Cellular and molecular life sciences : CMLS 80 (11) (2023)
Marie Macnee, Eduardo Pérez-Palma, Tobias Brünger, Chiara Klöckner, Konrad Platzer, Arthur Stefanski, Ludovica Montanucci, Allan Bayat, Maximilian Radtke, Ryan L Collins, Michael Talkowski, Daniel Blankenberg, Rikke S Møller, Johannes R Lemke, Michael Nothnagel, Patrick May, Dennis Lal
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online. Bioinformatics (Oxford, England) 39 (5) (2023)
Tobias Brünger, Eduardo Pérez-Palma, Ludovica Montanucci, Michael Nothnagel, Rikke S Møller, Stephanie Schorge, Sameer M Zuberi, Joseph D Symonds, Johannes R Lemke, Andreas Brunklaus, Stephen F Traynelis, Patrick May, Dennis Lal
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes. Brain : a journal of neurology (2022)
Bernt Popp, Melanie Brugger, Sibylle Poschmann, Bartolomaeus Tobias, Maximilian Radtke, Julia Hentschel, Nataliya Di Donato, Andreas Rump, Janina Gburek-Augustat, Elisabeth Graf, Matias Wagner, Ina Sorge, Johannes R Lemke, Thomas Meitinger, Rami Abou Jamra, Vincent Strehlow, Theresa Brunet
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome. Clinical genetics (2022)
Johannes Luppe, Heinrich Sticht, François Lecoquierre, Alice Goldenberg, Kathleen M Gorman, Ben Molloy, Emanuele Agolini, Antonio Novelli, Silvana Briuglia, Outi Kuismin, Carlo Marcelis, Antonio Vitobello, Anne Sophie Denommé-Pichon, Sophie Julia, Johannes R Lemke, Rami Abou Jamra, Konrad Platzer
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy. European journal of human genetics : EJHG 31 (3) (2022)
Timothy E Green, Mareike Schimmel, Susanna Schubert, Johannes R Lemke, Mark F Bennett, Michael Stephen Hildebrand, Samuel Frank Berkovic
Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome. European journal of human genetics : EJHG 30 (3) (2022)
Vincent Strehlow, Claudine Rieubland, Sabina Gallati, Sukhan Kim, Scott J Myers, Vincent Peterson, Amy J Ramsey, Daniel D Teuscher, Stephen F Traynelis, Johannes R Lemke
Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy. Epilepsia 63 (10) (2022)
Johannes Luppe, Heinrich Sticht, François Lecoquierre, Alice Goldenberg, Kathleen M Gorman, Ben Molloy, Emanuele Agolini, Antonio Novelli, Silvana Briuglia, Outi Kuismin, Carlo Marcelis, Antonio Vitobello, Anne Sophie Denommé-Pichon, Sophie Julia, Johannes R Lemke, Rami Abou Jamra, Konrad Platzer
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy. European journal of human genetics : EJHG 31 (3) (2022)
Johannes Luppe, Heinrich Sticht, François Lecoquierre, Alice Goldenberg, Kathleen M Gorman, Ben Molloy, Emanuele Agolini, Antonio Novelli, Silvana Briuglia, Outi Kuismin, Carlo Marcelis, Antonio Vitobello, Anne Sophie Denommé-Pichon, Sophie Julia, Johannes R Lemke, Rami Abou Jamra, Konrad Platzer
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy. European journal of human genetics : EJHG 31 (3) (2022)
Johannes Luppe, Heinrich Sticht, François Lecoquierre, Alice Goldenberg, Kathleen M Gorman, Ben Molloy, Emanuele Agolini, Antonio Novelli, Silvana Briuglia, Outi Kuismin, Carlo Marcelis, Antonio Vitobello, Anne Sophie Denommé-Pichon, Sophie Julia, Johannes R Lemke, Rami Abou Jamra, Konrad Platzer
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy. European journal of human genetics : EJHG 31 (3) (2022)
Julian Schröter, Bernt Popp, Heiko Brennenstuhl, Jan H Döring, Stephany H Donze, Emilia K Bijlsma, Arie van Haeringen, Dagmar Huhle, Leonie Jestaedt, Andreas Merkenschlager, Maria Arelin, Daniel Gräfe, Sonja Neuser, Stephanie Oates, Deb K Pal, Michael J Parker, Johannes R Lemke, Georg F Hoffmann, Stefan Kölker, Inga Harting, Steffen Syrbe
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies. European journal of human genetics : EJHG 30 (3) (2022)
Diana Le Duc, Akhil Velluva, Molly Cassatt-Johnstone, Remi-Andre Olsen, Sina Baleka, Chen-Ching Lin, Johannes R Lemke, John R Southon, Alexander Burdin, Ming-Shan Wang, Sonja Grunewald, Wilfried Rosendahl, Ulrich Joger, Sereina Rutschmann, Thomas B Hildebrandt, Guido Fritsch, James A Estes, Janet Kelso, Love Dalen, Michael Hofreiter, Joshua D Kapp, Torsten Schöneberg
Genomic basis for skin phenotype and cold adaptation in the extinct Steller's sea cow. Science advances 8 (5) (2022)
Katharina J Götze, Achmed Mrestani, Paula Beckmann, Knut Krohn, Diana Le Duc, Akhil Velluva, Mathias A Böhme, Manfred Heckmann, Rami Abou Jamra, Johannes R Lemke, Hendrik Bläker, Nicole Scholz, Dmitrij Ljaschenko, Tobias Langenhan
Improving one-step scarless genome editing in Drosophila melanogaster by combining ovo D co-CRISPR selection with sgRNA target site masking. Biology methods & protocols 7 (1) (2022)
Johannes Luppe, Heinrich Sticht, François Lecoquierre, Alice Goldenberg, Kathleen M Gorman, Ben Molloy, Emanuele Agolini, Antonio Novelli, Silvana Briuglia, Outi Kuismin, Carlo Marcelis, Antonio Vitobello, Anne Sophie Denommé-Pichon, Sophie Julia, Johannes R Lemke, Rami Abou Jamra, Konrad Platzer
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy. European journal of human genetics : EJHG 31 (3) (2022)
Johannes Luppe, Heinrich Sticht, François Lecoquierre, Alice Goldenberg, Kathleen M Gorman, Ben Molloy, Emanuele Agolini, Antonio Novelli, Silvana Briuglia, Outi Kuismin, Carlo Marcelis, Antonio Vitobello, Anne Sophie Denommé-Pichon, Sophie Julia, Johannes R Lemke, Rami Abou Jamra, Konrad Platzer
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy. European journal of human genetics : EJHG (2022)
Konrad Platzer, Heinrich Sticht, Caleb P Bupp, Mythily Ganapathi, Elaine Maria Pereira, Gwenaël L E Guyader, Frederic Bilan, Lindsay B Henderson, Johannes R Lemke, Holger Taschenberger, Nils Brose, Rami Abou Jamra, Sonja M Wojcik
De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission. Annals of neurology 92 (6) (2022)
Jan H Döring, Julian Schröter, Jerome Jüngling, Saskia Biskup, Kerstin Alexandra Klotz, Thomas Bast, Tobias Dietel, G Christoph Korenke, Sophie Christoph, Heiko Brennenstuhl, Guido Rubboli, Rikke Steensjerre Moller, Gaetan Lesca, Yves Chaix, Stefan Kölker, Georg Friedrich Hoffmann, Johannes R Lemke, Steffen Syrbe
Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders. International journal of molecular sciences 22 (6) (2021)
Julia Klau, Rami Abou Jamra, Maximilian Radtke, Henry Oppermann, Johannes R Lemke, Skadi Beblo, Bernt Popp
Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders. European journal of human genetics : EJHG (2021)
Henrike O Heyne, David Baez-Nieto, Sumaiya Iqbal, Duncan S Palmer, Andreas Brunklaus, Patrick May, null null, Katrine Marie Johannesen, Stephan Lauxmann, Johannes R Lemke, Rikke Steensjerre Moller, Eduardo Pérez-Palma, Ute I Scholl, Steffen Syrbe, Holger Lerche, Dennis Lal, Arthur J Campbell, Hao-Ran Wang, Jen Pan, Mark J Daly
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels. Science translational medicine 12 (556) (2021)
Pia Zacher, Thomas Mayer, Frank Brandhoff, Tobias Bartolomaeus, Diana Le Duc, Martin Finzel, Anja Heinze, Susanne Horn, Chiara Klöckner, Gudrun Körber, Julia Hentschel, Malgorzata Kalita, Ilona Krey, Marina Nastainczyk-Wulf, Konrad Platzer, Johannes Rebstock, Bernt Popp, Mathias Stiller, Anne-Christin Teichmann, Rami Abou Jamra, Johannes R Lemke
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals. Genetics in medicine : official journal of the American College of Medical Genetics 23 (8) (2021)
Diana Le Duc, Julia Hentschel, Sonja Neuser, Mathias Stiller, Carolin Meier, Elisabeth Jäger, Rami Abou Jamra, Konrad Platzer, Astrid Monecke, Mirjana Ziemer, Aleksander Markovic, Hendrik Bläker, Johannes R Lemke
In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas. European journal of human genetics : EJHG 29 (3) (2020)
Paolo Ambrosino, Maria Virginia Soldovieri, Thomas Bast, Peter D Turnpenny, Sabine Uhrig, Saskia Biskup, Miriam Döcker, Thilo Fleck, Ilaria Mosca, Laura Manocchio, Nunzio Iraci, Maurizio Taglialatela, Johannes R Lemke
De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy. Annals of neurology 83 (6) (2019)
Konrad Platzer, Benjamin Cogné, Jennifer Hague, Carlo L Marcelis, Diana Mitter, Katrin Oberndorff, Soo-Mi Park, Hans K Ploos van Amstel, Ingrid Simonic, Jasper J van der Smagt, Alexander P A Stegmann, Servi J C Stevens, Constance T R M Stumpel, Marie Vincent, Johannes R Lemke, Rami Abou Jamra
Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development. Annals of neurology 84 (2) (2018)
Henrike O Heyne, Tarjinder Singh, Hannah Stamberger, Rami Abou Jamra, Hande Caglayan, Dana Craiu, Peter De Jonghe, Renzo Guerrini, Katherine L Helbig, Bobby P C Koeleman, Jack A Kosmicki, Tarja Linnankivi, Patrick May, Hiltrud Muhle, Rikke S Møller, Bernd A Neubauer, Aarno Palotie, Manuela Pendziwiat, Pasquale Striano, Sha Tang, Sitao Wu, null null, Annapurna Poduri, Yvonne G Weber, Sarah Weckhuysen, Sanjay M Sisodiya, Mark J Daly, Ingo Helbig, Dennis Lal, Johannes R Lemke
De novo variants in neurodevelopmental disorders with epilepsy. Nature genetics 50 (7) (2018)
Johannes R Lemke
Commentary: GATOR Complex-Associated Epilepsies. Epilepsia 58 (7) (2017)

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Johannes R Lemke