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Tim M. Strom
School of Medicine
109H-index
714Paper Count
5.4WCitation Count
Published Papers 249
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Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.png)
2025-06-24
0
OAAI
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 Schülke; 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 S. Schäfer; Sarah Bernsen; Patrick Weydt; Sergio Castro-Gomez; Ahmad Aziz; Marcus Grobe-Einsler; Okka Kimmich; Xenia Kobeleva; Demet Önder; Hellen Lesmann; Sheetal Kumar; Pawel Tacik; Meghna Ahuja Bhasin; 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 M. C. 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 Pauly; Alexander Münchau; Katja Lohmann; Irina Hüning; Britta Hanker; Tobias Bäumer; Rebecca Herzog; Yorck Hellenbroich; Dominik S. Westphal; Tim Strom; Reka Kovacs; Korbinian M. 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 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 Nöthen; Olaf Riess; Thomas Meitinger; Heiko Krude; Peter M. Krawitz; Tobias Haack; Nadja Ehmke; Matias Wagner
2025-06-240OAAIAxel 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 Schülke; 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 S. Schäfer; Sarah Bernsen; Patrick Weydt; Sergio Castro-Gomez; Ahmad Aziz; Marcus Grobe-Einsler; Okka Kimmich; Xenia Kobeleva; Demet Önder; Hellen Lesmann; Sheetal Kumar; Pawel Tacik; Meghna Ahuja Bhasin; 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 M. C. 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 Pauly; Alexander Münchau; Katja Lohmann; Irina Hüning; Britta Hanker; Tobias Bäumer; Rebecca Herzog; Yorck Hellenbroich; Dominik S. Westphal; Tim Strom; Reka Kovacs; Korbinian M. 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 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 Nöthen; Olaf Riess; Thomas Meitinger; Heiko Krude; Peter M. Krawitz; Tobias Haack; Nadja Ehmke; Matias Wagner.png){kind=icon}
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SaveHNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy2024-08-071
OAAIRoos, Andreas; Haeusler, Martin; Kollipara, Laxmikanth; Topf, Ana; Preusse, Corinna; Stucka, Rolf; Nolte, Kay; Strom, Tim; Berutti, Riccardo; Jiang, Xuehui; Koll, Randi; Lochmueller, Hanns; Schacht, Sabine Maria; Zahedi, Rene P.; Weis, Joachim; Senderekh, Jan
2024-08-071OAAIRoos, Andreas; Haeusler, Martin; Kollipara, Laxmikanth; Topf, Ana; Preusse, Corinna; Stucka, Rolf; Nolte, Kay; Strom, Tim; Berutti, Riccardo; Jiang, Xuehui; Koll, Randi; Lochmueller, Hanns; Schacht, Sabine Maria; Zahedi, Rene P.; Weis, Joachim; Senderekh, JanShareSaveThe new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.png)
BRAIN2023-12-115OAAIZibold, Julia; Lessard, Lola E. R.; Picard, Flavien; da Silva, Lara Gruijs; Zadorozhna, Yelyzaveta; Streichenberger, Nathalie; Belotti, Edwige; Osseni, Alexis; Emerit, Andrea; Errazuriz-Cerda, Elisabeth; Michel-Calemard, Laurence; Menassa, Rita; Coudert, Laurent; Wiessner, Manuela; Stucka, Rolf; Klopstock, Thomas; Simonetti, Francesca; Hutten, Saskia; Nonaka, Takashi; Hasegawa, Masato; Strom, Tim M.; Bernard, Emilien; Ollagnon, Elisabeth; Urtizberea, Andoni; Dormann, Dorothee; Petiot, Philippe; Schaeffer, Laurent; Senderek, Jan; Leblanc, Pascal
BRAINIF11.7
2023-12-115OAAIZibold, Julia; Lessard, Lola E. R.; Picard, Flavien; da Silva, Lara Gruijs; Zadorozhna, Yelyzaveta; Streichenberger, Nathalie; Belotti, Edwige; Osseni, Alexis; Emerit, Andrea; Errazuriz-Cerda, Elisabeth; Michel-Calemard, Laurence; Menassa, Rita; Coudert, Laurent; Wiessner, Manuela; Stucka, Rolf; Klopstock, Thomas; Simonetti, Francesca; Hutten, Saskia; Nonaka, Takashi; Hasegawa, Masato; Strom, Tim M.; Bernard, Emilien; Ollagnon, Elisabeth; Urtizberea, Andoni; Dormann, Dorothee; Petiot, Philippe; Schaeffer, Laurent; Senderek, Jan; Leblanc, PascalShareSaveThe clinical and genetic spectrum of autosomal-recessive TOR1A-related disordersBRAIN2023-02-094OAAISaffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Dario Ortigoza-Escobar, Juan; AlShamsi, Aisha M.; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; Day-Salvatore, Debra-Lynn; Jesus Martinez-Gonzalez, Maria; Levandoski, Kristin M.; Bedoukian, Emma; Madan-Khetarpal, Suneeta; Idleburg, Michaela J.; Menezes, Minal Juliet; Siddharth, Aishwarya; Platzer, Konrad; Oppermann, Henry; Smitka, Martin; Collins, Felicity; Lek, Monkol; Shahrooei, Mohmmad; Ghavideldarestani, Maryam; Herman, Isabella; Rendu, John; Faure, Julien; Baker, Janice; Bhambhani, Vikas; Calderwood, Laurel; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh Sadat; Hashemi, Narges; Doosti, Mohammad; Safi, Mojtaba; Ahangari, Najmeh; Torbati, Paria Najarzadeh; Abedini, Soheila; Salpietro, Vincenzo; Gulec, Elif Yilmaz; Eshaghian, Safieh; Ghazavi, Mohammadreza; Pascher, Michael T.; Vogel, Marina; Abicht, Angela; Moutton, Sebastien; Bruel, Ange-Line; Rieubland, Claudine; Gallati, Sabina; Strom, Tim M.; Lochmueller, Hanns; Mohammadi, Mohammad Hasan; Alvi, Javeria Raza; Zackai, Elaine H.; Keena, Beth A.; Skraban, Cara M.; Berger, Seth, I; Andrew, Erin H.; Rahimian, Elham; Morrow, Michelle M.; Wentzensen, Ingrid M.; Millan, Francisca; Henderson, Lindsay B.; Dafsari, Hormos Salimi; Jungbluth, Heinz; Gomez-Ospina, Natalia; McRae, Anne; Peter, Merlene; Veltra, Danai; Marinakis, Nikolaos M.; Sofocleous, Christalena; Ashrafzadeh, Farah; Pehlivan, Davut; Lemke, Johannes R.; Melki, Judith; Benezit, Audrey; Bauer, Peter; Weis, Denisa; Lupski, James R.; Senderek, Jan; Christodoulou, John; Chung, Wendy K.; Goodchild, Rose; Offiah, Amaka C.; Moreno-De-Luca, Andres; Suri, Mohnish; Ebrahimi-Fakhari, Darius; Houlden, Henry; Maroofian, Reza
BRAINIF11.7
2023-02-094OAAISaffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Dario Ortigoza-Escobar, Juan; AlShamsi, Aisha M.; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; Day-Salvatore, Debra-Lynn; Jesus Martinez-Gonzalez, Maria; Levandoski, Kristin M.; Bedoukian, Emma; Madan-Khetarpal, Suneeta; Idleburg, Michaela J.; Menezes, Minal Juliet; Siddharth, Aishwarya; Platzer, Konrad; Oppermann, Henry; Smitka, Martin; Collins, Felicity; Lek, Monkol; Shahrooei, Mohmmad; Ghavideldarestani, Maryam; Herman, Isabella; Rendu, John; Faure, Julien; Baker, Janice; Bhambhani, Vikas; Calderwood, Laurel; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh Sadat; Hashemi, Narges; Doosti, Mohammad; Safi, Mojtaba; Ahangari, Najmeh; Torbati, Paria Najarzadeh; Abedini, Soheila; Salpietro, Vincenzo; Gulec, Elif Yilmaz; Eshaghian, Safieh; Ghazavi, Mohammadreza; Pascher, Michael T.; Vogel, Marina; Abicht, Angela; Moutton, Sebastien; Bruel, Ange-Line; Rieubland, Claudine; Gallati, Sabina; Strom, Tim M.; Lochmueller, Hanns; Mohammadi, Mohammad Hasan; Alvi, Javeria Raza; Zackai, Elaine H.; Keena, Beth A.; Skraban, Cara M.; Berger, Seth, I; Andrew, Erin H.; Rahimian, Elham; Morrow, Michelle M.; Wentzensen, Ingrid M.; Millan, Francisca; Henderson, Lindsay B.; Dafsari, Hormos Salimi; Jungbluth, Heinz; Gomez-Ospina, Natalia; McRae, Anne; Peter, Merlene; Veltra, Danai; Marinakis, Nikolaos M.; Sofocleous, Christalena; Ashrafzadeh, Farah; Pehlivan, Davut; Lemke, Johannes R.; Melki, Judith; Benezit, Audrey; Bauer, Peter; Weis, Denisa; Lupski, James R.; Senderek, Jan; Christodoulou, John; Chung, Wendy K.; Goodchild, Rose; Offiah, Amaka C.; Moreno-De-Luca, Andres; Suri, Mohnish; Ebrahimi-Fakhari, Darius; Houlden, Henry; Maroofian, RezaShareSaveARTICLE Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid featuresGENETICS IN MEDICINE2022-09-012OAAIKornak, Uwe; Saha, Namrata; Keren, Boris; Neumann, Alexander; Tavares, Ana Lisa Taylor; Piard, Juliette; Kopp, Johannes; Alves, Joao Guilherme Rodrigues; de los Santos, Miguel Rodriguez; El Choubassi, Naji; Ehmke, Nadja; Jaeger, Marten; Spielmann, Malte; Pantel, Jean Tori; Lejeune, Elodie; Fauler, Beatrix; Mielke, Thorsten; Hecht, Jochen; Meierhofer, David; Strom, Tim M.; Laugel, Vincent; Brice, Alexis; Mundlos, Stefan; Bertoli-Avella, Aida; Bauer, Peter; Heyd, Florian; Boute, Odile; Dupont, Juliette; Depienne, Christel; Van Maldergem, Lionel; Fischer-Zirnsak, Bjoern
GENETICS IN MEDICINEIF6.2
2022-09-012OAAIKornak, Uwe; Saha, Namrata; Keren, Boris; Neumann, Alexander; Tavares, Ana Lisa Taylor; Piard, Juliette; Kopp, Johannes; Alves, Joao Guilherme Rodrigues; de los Santos, Miguel Rodriguez; El Choubassi, Naji; Ehmke, Nadja; Jaeger, Marten; Spielmann, Malte; Pantel, Jean Tori; Lejeune, Elodie; Fauler, Beatrix; Mielke, Thorsten; Hecht, Jochen; Meierhofer, David; Strom, Tim M.; Laugel, Vincent; Brice, Alexis; Mundlos, Stefan; Bertoli-Avella, Aida; Bauer, Peter; Heyd, Florian; Boute, Odile; Dupont, Juliette; Depienne, Christel; Van Maldergem, Lionel; Fischer-Zirnsak, BjoernShareSaveClinical implementation of RNA sequencing for Mendelian disease diagnosticsGENOME MEDICINE2022-04-0591OAAIYepez, Vicente A.; Gusic, Mirjana; Kopajtich, Robert; Mertes, Christian; Smith, Nicholas H.; Alston, Charlotte L.; Ban, Rui; Beblo, Skadi; Berutti, Riccardo; Blessing, Holger; Ciara, Elzbieta; Distelmaier, Felix; Freisinger, Peter; Haeberle, Johannes; Hayflick, Susan J.; Hempel, Maja; Itkis, Yulia S.; Kishita, Yoshihito; Klopstock, Thomas; Krylova, Tatiana D.; Lamperti, Costanza; Lenz, Dominic; Makowski, Christine; Mosegaard, Signe; Mueller, Michaela F.; Munoz-Pujol, Gerard; Nadel, Agnieszka; Ohtake, Akira; Okazaki, Yasushi; Procopio, Elena; Schwarzmayr, Thomas; Smet, Joel; Staufner, Christian; Stenton, Sarah L.; Strom, Tim M.; Terrile, Caterina; Tort, Frederic; Van Coster, Rudy; Vanlander, Arnaud; Wagner, Matias; Xu, Manting; Fang, Fang; Ghezzi, Daniele; Mayr, Johannes A.; Piekutowska-Abramczuk, Dorota; Ribes, Antonia; Roetig, Agnes; Taylor, Robert W.; Wortmann, Saskia B.; Murayama, Kei; Meitinger, Thomas; Gagneur, Julien; Prokisch, Holger
GENOME MEDICINEIF11.2
2022-04-0591OAAIYepez, Vicente A.; Gusic, Mirjana; Kopajtich, Robert; Mertes, Christian; Smith, Nicholas H.; Alston, Charlotte L.; Ban, Rui; Beblo, Skadi; Berutti, Riccardo; Blessing, Holger; Ciara, Elzbieta; Distelmaier, Felix; Freisinger, Peter; Haeberle, Johannes; Hayflick, Susan J.; Hempel, Maja; Itkis, Yulia S.; Kishita, Yoshihito; Klopstock, Thomas; Krylova, Tatiana D.; Lamperti, Costanza; Lenz, Dominic; Makowski, Christine; Mosegaard, Signe; Mueller, Michaela F.; Munoz-Pujol, Gerard; Nadel, Agnieszka; Ohtake, Akira; Okazaki, Yasushi; Procopio, Elena; Schwarzmayr, Thomas; Smet, Joel; Staufner, Christian; Stenton, Sarah L.; Strom, Tim M.; Terrile, Caterina; Tort, Frederic; Van Coster, Rudy; Vanlander, Arnaud; Wagner, Matias; Xu, Manting; Fang, Fang; Ghezzi, Daniele; Mayr, Johannes A.; Piekutowska-Abramczuk, Dorota; Ribes, Antonia; Roetig, Agnes; Taylor, Robert W.; Wortmann, Saskia B.; Murayama, Kei; Meitinger, Thomas; Gagneur, Julien; Prokisch, HolgerShareSaveLifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databasesEBIOMEDICINE2022-03-0120OAAIKolarova, Hana; Tan, Jing; Strom, Tim M.; Meitinger, Thomas; Wagner, Matias; Klopstock, Thomas
EBIOMEDICINEIF10.8
2022-03-0120OAAIKolarova, Hana; Tan, Jing; Strom, Tim M.; Meitinger, Thomas; Wagner, Matias; Klopstock, ThomasShareSaveClonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders2022-02-185OAAIBrunet, Theresa; Berutti, Riccardo; Dill, Veronika; Hecker, Judith S.; Choukair, Daniela; Andres, Stephanie; Deschauer, Marcus; Diehl-Schmid, Janine; Krenn, Martin; Eckstein, Gertrud; Graf, Elisabeth; Gasser, Thomas; Strom, Tim M.; Hoefele, Julia; Goetze, Katharina S.; Meitinger, Thomas; Wagner, Matias
2022-02-185OAAIBrunet, Theresa; Berutti, Riccardo; Dill, Veronika; Hecker, Judith S.; Choukair, Daniela; Andres, Stephanie; Deschauer, Marcus; Diehl-Schmid, Janine; Krenn, Martin; Eckstein, Gertrud; Graf, Elisabeth; Gasser, Thomas; Strom, Tim M.; Hoefele, Julia; Goetze, Katharina S.; Meitinger, Thomas; Wagner, MatiasShareSavePopulation-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study2022-02-1510OAAISanin, Veronika; Schmieder, Raphael; Ates, Sara; Schlieben, Lea Dewi; Wiehler, Jens; Sun, Ruoyu; Decker, Manuela; Sander, Michaela; Holdenrieder, Stefan; Kohlmayer, Florian; Friedmann, Anna; Mall, Volker; Feiler, Therese; Dressler, Arne; Strom, Tim M.; Prokisch, Holger; Meitinger, Thomas; von Scheidt, Moritz; Koenig, Wolfgang; Leipold, Georg; Schunkert, Heribert
2022-02-1510OAAISanin, Veronika; Schmieder, Raphael; Ates, Sara; Schlieben, Lea Dewi; Wiehler, Jens; Sun, Ruoyu; Decker, Manuela; Sander, Michaela; Holdenrieder, Stefan; Kohlmayer, Florian; Friedmann, Anna; Mall, Volker; Feiler, Therese; Dressler, Arne; Strom, Tim M.; Prokisch, Holger; Meitinger, Thomas; von Scheidt, Moritz; Koenig, Wolfgang; Leipold, Georg; Schunkert, HeribertShareSaveBiallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia (vol 144, pg 1422, 2021)BRAIN2021-08-312OAAIWiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Muller, Juliane S.; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M.; Alfares, Ahmed A.; Zhu, Changlian; Meszarosova, Anna Uhrova; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R.; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T.; Strom, Tim M.; De Jonghe, Peter; Deconinck, Tine; De Ridder, Willem; De Winter, Jonathan; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; van de Warrenburg, Bart P.; Portier, Ruben; Bergmann, Carsten; Firouzabadi, Saghar Ghasemi; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A.; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair T.; Wood, Nick W.; Mau-Them, Frederic Tran; Haack, Tobias; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laetitia; Schmitt, Emmanuelle; Lacaze, Elodie; Kuepper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary J. H.; Grand, Katheryn; Graham, John M., Jr.; Lewis, Richard A.; Millan, Francisca; Duman, Ozguer; Dundar, Nihal Olgac; Uyanik, Goekhan; Schoels, Ludger; Nuernberg, Peter; Nuernberg, Gudrun; Catala-Bordes, Andrea; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Rebelo, Adriana; Boucanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S.; Shamseldin, Hanan; Al Tala, Saeed; Varaghchi, Jamileh Rezazadeh; Najafi, Maryam; Deschner, Selina; Glaeser, Dieter; Huettel, Wolfgang; Kruer, Michael C.; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Zuechner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schuele, Rebecca; Horvath, Rita; Houlden, Henry; Bartesaghi, Luca; Lee, Hwei-Jen; Ampatzis, Konstantinos; Pierson, Tyler Mark; Senderek, Jan
BRAINIF11.7
2021-08-312OAAIWiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Muller, Juliane S.; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M.; Alfares, Ahmed A.; Zhu, Changlian; Meszarosova, Anna Uhrova; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R.; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T.; Strom, Tim M.; De Jonghe, Peter; Deconinck, Tine; De Ridder, Willem; De Winter, Jonathan; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; van de Warrenburg, Bart P.; Portier, Ruben; Bergmann, Carsten; Firouzabadi, Saghar Ghasemi; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A.; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair T.; Wood, Nick W.; Mau-Them, Frederic Tran; Haack, Tobias; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laetitia; Schmitt, Emmanuelle; Lacaze, Elodie; Kuepper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary J. H.; Grand, Katheryn; Graham, John M., Jr.; Lewis, Richard A.; Millan, Francisca; Duman, Ozguer; Dundar, Nihal Olgac; Uyanik, Goekhan; Schoels, Ludger; Nuernberg, Peter; Nuernberg, Gudrun; Catala-Bordes, Andrea; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Rebelo, Adriana; Boucanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S.; Shamseldin, Hanan; Al Tala, Saeed; Varaghchi, Jamileh Rezazadeh; Najafi, Maryam; Deschner, Selina; Glaeser, Dieter; Huettel, Wolfgang; Kruer, Michael C.; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Zuechner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schuele, Rebecca; Horvath, Rita; Houlden, Henry; Bartesaghi, Luca; Lee, Hwei-Jen; Ampatzis, Konstantinos; Pierson, Tyler Mark; Senderek, JanShareSaveIdentification of a Functional PDE5A Variant at the Chromosome 4q27 Coronary Artery Disease Locus in an Extended Myocardial Infarction FamilyCIRCULATION2021-08-246OAAIDang, Tan An; Kessler, Thorsten; Wobst, Jana; Wierer, Michael; Braenne, Ingrid; Strom, Tim M.; Tennstedt, Stephanie; Sager, Hendrik B.; Meitinger, Thomas; Erdmann, Jeanette; Schunkert, Heribert
CIRCULATIONIF38.6
2021-08-246OAAIDang, Tan An; Kessler, Thorsten; Wobst, Jana; Wierer, Michael; Braenne, Ingrid; Strom, Tim M.; Tennstedt, Stephanie; Sager, Hendrik B.; Meitinger, Thomas; Erdmann, Jeanette; Schunkert, HeribertShareSaveDeterminants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomesNATURE COMMUNICATIONS2021-06-0939OAAIGoodrich, Julia K.; Singer-Berk, Moriel; Son, Rachel; Sveden, Abigail; Wood, Jordan; England, Eleina; Cole, Joanne B.; Weisburd, Ben; Watts, Nick; Caulkins, Lizz; Dornbos, Peter; Koesterer, Ryan; Zappala, Zachary; Zhang, Haichen; Maloney, Kristin A.; Dahl, Andy; Aguilar-Salinas, Carlos A.; Atzmon, Gil; Barajas-Olmos, Francisco; Barzilai, Nir; Blangero, John; Boerwinkle, Eric; Bonnycastle, Lori L.; Bottinger, Erwin; Bowden, Donald W.; Centeno-Cruz, Federico; Chambers, John C.; Chami, Nathalie; Chan, Edmund; Chan, Juliana; Cheng, Ching-Yu; Cho, Yoon Shin; Contreras-Cubas, Cecilia; Cordova, Emilio; Correa, Adolfo; DeFronzo, Ralph A.; Duggirala, Ravindranath; Dupuis, Josee; Eugenia Garay-Sevilla, Ma; Garcia-Ortiz, Humberto; Gieger, Christian; Glaser, Benjamin; Gonzalez-Villalpando, Clicerio; Elena Gonzalez, Ma; Grarup, Niels; Groop, Leif; Gross, Myron; Haiman, Christopher; Han, Sohee; Hanis, Craig L.; Hansen, Torben; Heard-Costa, Nancy L.; Henderson, Brian E.; Hernandez, Juan Manuel Malacara; Hwang, Mi Yeong; Islas-Andrade, Sergio; Jorgensen, Marit E.; Kang, Hyun Min; Kim, Bong-Jo; Kim, Young Jin; Koistinen, Heikki A.; Kooner, Jaspal Singh; Kuusisto, Johanna; Kwak, Soo-Heon; Laakso, Markku; Lange, Leslie; Lee, Jong-Young; Lee, Juyoung; Lehman, Donna M.; Linneberg, Allan; Liu, Jianjun; Loos, Ruth J. F.; Lyssenko, Valeriya; Ma, Ronald C. W.; Martinez-Hernandez, Angelica; Meigs, James B.; Meitinger, Thomas; Mendoza-Caamal, Elvia; Mohlke, Karen L.; Morris, Andrew D.; Morrison, Alanna C.; Ng, Maggie C. Y.; Nilsson, Peter M.; O'Donnell, Christopher J.; Orozco, Lorena; Palmer, Colin N. A.; Park, Kyong Soo; Post, Wendy S.; Pedersen, Oluf; Preuss, Michael; Psaty, Bruce M.; Reiner, Alexander P.; Revilla-Monsalve, Cristina; Rich, Stephen S.; Rotter, Jerome I.; Saleheen, Danish; Schurmann, Claudia; Sim, Xueling; Sladek, Rob; Small, Kerrin S.; So, Wing Yee; Spector, Timothy D.; Strauch, Konstantin; Strom, Tim M.; Tai, E. Shyong; Tam, Claudia H. T.; Teo, Yik Ying; Thameem, Farook; Tomlinson, Brian; Tracy, Russell P.; Tuomi, Tiinamaija; Tuomilehto, Jaakko; Tusie-Luna, Teresa; van Dam, Rob M.; Vasan, Ramachandran S.; Wilson, James G.; Witte, Daniel R.; Wong, Tien-Yin; Burtt, Noel P.; Zaitlen, Noah; McCarthy, Mark I.; Boehnke, Michael; Pollin, Toni I.; Flannick, Jason; Mercader, Josep M.; O'Donnell-Luria, Anne; Baxter, Samantha; Florez, Jose C.; MacArthur, Daniel G.; Udler, Miriam S.
NATURE COMMUNICATIONSIF15.7
2021-06-0939OAAIGoodrich, Julia K.; Singer-Berk, Moriel; Son, Rachel; Sveden, Abigail; Wood, Jordan; England, Eleina; Cole, Joanne B.; Weisburd, Ben; Watts, Nick; Caulkins, Lizz; Dornbos, Peter; Koesterer, Ryan; Zappala, Zachary; Zhang, Haichen; Maloney, Kristin A.; Dahl, Andy; Aguilar-Salinas, Carlos A.; Atzmon, Gil; Barajas-Olmos, Francisco; Barzilai, Nir; Blangero, John; Boerwinkle, Eric; Bonnycastle, Lori L.; Bottinger, Erwin; Bowden, Donald W.; Centeno-Cruz, Federico; Chambers, John C.; Chami, Nathalie; Chan, Edmund; Chan, Juliana; Cheng, Ching-Yu; Cho, Yoon Shin; Contreras-Cubas, Cecilia; Cordova, Emilio; Correa, Adolfo; DeFronzo, Ralph A.; Duggirala, Ravindranath; Dupuis, Josee; Eugenia Garay-Sevilla, Ma; Garcia-Ortiz, Humberto; Gieger, Christian; Glaser, Benjamin; Gonzalez-Villalpando, Clicerio; Elena Gonzalez, Ma; Grarup, Niels; Groop, Leif; Gross, Myron; Haiman, Christopher; Han, Sohee; Hanis, Craig L.; Hansen, Torben; Heard-Costa, Nancy L.; Henderson, Brian E.; Hernandez, Juan Manuel Malacara; Hwang, Mi Yeong; Islas-Andrade, Sergio; Jorgensen, Marit E.; Kang, Hyun Min; Kim, Bong-Jo; Kim, Young Jin; Koistinen, Heikki A.; Kooner, Jaspal Singh; Kuusisto, Johanna; Kwak, Soo-Heon; Laakso, Markku; Lange, Leslie; Lee, Jong-Young; Lee, Juyoung; Lehman, Donna M.; Linneberg, Allan; Liu, Jianjun; Loos, Ruth J. F.; Lyssenko, Valeriya; Ma, Ronald C. W.; Martinez-Hernandez, Angelica; Meigs, James B.; Meitinger, Thomas; Mendoza-Caamal, Elvia; Mohlke, Karen L.; Morris, Andrew D.; Morrison, Alanna C.; Ng, Maggie C. Y.; Nilsson, Peter M.; O'Donnell, Christopher J.; Orozco, Lorena; Palmer, Colin N. A.; Park, Kyong Soo; Post, Wendy S.; Pedersen, Oluf; Preuss, Michael; Psaty, Bruce M.; Reiner, Alexander P.; Revilla-Monsalve, Cristina; Rich, Stephen S.; Rotter, Jerome I.; Saleheen, Danish; Schurmann, Claudia; Sim, Xueling; Sladek, Rob; Small, Kerrin S.; So, Wing Yee; Spector, Timothy D.; Strauch, Konstantin; Strom, Tim M.; Tai, E. Shyong; Tam, Claudia H. T.; Teo, Yik Ying; Thameem, Farook; Tomlinson, Brian; Tracy, Russell P.; Tuomi, Tiinamaija; Tuomilehto, Jaakko; Tusie-Luna, Teresa; van Dam, Rob M.; Vasan, Ramachandran S.; Wilson, James G.; Witte, Daniel R.; Wong, Tien-Yin; Burtt, Noel P.; Zaitlen, Noah; McCarthy, Mark I.; Boehnke, Michael; Pollin, Toni I.; Flannick, Jason; Mercader, Josep M.; O'Donnell-Luria, Anne; Baxter, Samantha; Florez, Jose C.; MacArthur, Daniel G.; Udler, Miriam S.ShareSaveBiallelic variants in HPDL cause pure and complicated hereditary spastic paraplegiaBRAIN2021-05-1029OAAIWiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Muller, Juliane S.; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M.; Alfares, Ahmed A.; Zhu, Changlian; Meszarosova, Anna Uhrova; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R.; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T.; Strom, Tim M.; De Jonghe, Peter; Deconinck, Tine; De Ridder, Willem; De Winter, Jonathan; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; van de Warrenburg, Bart P.; Portier, Ruben; Bergmann, Carsten; Firouzabadi, Saghar Ghasemi; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A.; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair; Wood, Nick W.; Mau-Them, Frederic Tran; Haack, Tobias; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laetitia; Schmitt, Emmanuelle; Lacaze, Elodie; Kuepper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary J. H.; Grand, Katheryn; Graham, John M., Jr.; Lewis, Richard A.; Millan, Francisca; Duman, Ozgur; Dundar, Nihal; Uyanik, Gokhan; Schols, Ludger; Nuernberg, Peter; Nuernberg, Gudrun; Bordes, Andrea Catala; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Rebelo, Adriana; Boucanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S.; Shamseldin, Hanan; Al Tala, Saeed; Varaghchi, Jamileh Rezazadeh; Najafi, Maryam; Deschner, Selina; Glaeser, Dieter; Huettel, Wolfgang; Kruer, Michael C.; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Zuchner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schuele, Rebecca; Horvath, Rita; Houlden, Henry; Bartesaghi, Luca; Lee, Hwei-Jen; Ampatzis, Konstantinos; Pierson, Tyler Mark; Senderek, Jan
BRAINIF11.7
2021-05-1029OAAIWiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Muller, Juliane S.; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M.; Alfares, Ahmed A.; Zhu, Changlian; Meszarosova, Anna Uhrova; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R.; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T.; Strom, Tim M.; De Jonghe, Peter; Deconinck, Tine; De Ridder, Willem; De Winter, Jonathan; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; van de Warrenburg, Bart P.; Portier, Ruben; Bergmann, Carsten; Firouzabadi, Saghar Ghasemi; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A.; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair; Wood, Nick W.; Mau-Them, Frederic Tran; Haack, Tobias; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laetitia; Schmitt, Emmanuelle; Lacaze, Elodie; Kuepper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary J. H.; Grand, Katheryn; Graham, John M., Jr.; Lewis, Richard A.; Millan, Francisca; Duman, Ozgur; Dundar, Nihal; Uyanik, Gokhan; Schols, Ludger; Nuernberg, Peter; Nuernberg, Gudrun; Bordes, Andrea Catala; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Rebelo, Adriana; Boucanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S.; Shamseldin, Hanan; Al Tala, Saeed; Varaghchi, Jamileh Rezazadeh; Najafi, Maryam; Deschner, Selina; Glaeser, Dieter; Huettel, Wolfgang; Kruer, Michael C.; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Zuchner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schuele, Rebecca; Horvath, Rita; Houlden, Henry; Bartesaghi, Luca; Lee, Hwei-Jen; Ampatzis, Konstantinos; Pierson, Tyler Mark; Senderek, JanShareSaveLoss of function mutations in GEMIN5 cause a neurodevelopmental disorderNATURE COMMUNICATIONS2021-05-0729OAAIKour, Sukhleen; Rajan, Deepa S.; Fortuna, Tyler R.; Anderson, Eric N.; Ward, Caroline; Lee, Youngha; Lee, Sangmoon; Shin, Yong Beom; Chae, Jong-Hee; Choi, Murim; Siquier, Karine; Cantagrel, Vincent; Amiel, Jeanne; Stolerman, Elliot S.; Barnett, Sarah S.; Cousin, Margot A.; Castro, Diana; McDonald, Kimberly; Kirmse, Brian; Nemeth, Andrea H.; Rajasundaram, Dhivyaa; Innes, A. Micheil; Lynch, Danielle; Frosk, Patrick; Collins, Abigail; Gibbons, Melissa; Yang, Michele; Desguerre, Isabelle; Boddaert, Nathalie; Gitiaux, Cyril; Rydning, Siri Lynne; Selmer, Kaja K.; Urreizti, Roser; Garcia-Oguiza, Alberto; Osorio, Andres Nascimento; Verdura, Edgard; Pujol, Aurora; McCurry, Hannah R.; Landers, John E.; Agnihotri, Sameer; Andriescu, E. Corina; Moody, Shade B.; Phornphutkul, Chanika; Sacoto, Maria J. Guillen; Begtrup, Amber; Houlden, Henry; Kirschner, Janbernd; Schorling, David; Rudnik-Schoeneborn, Sabine; Strom, Tim M.; Leiz, Steffen; Juliette, Kali; Richardson, Randal; Yang, Ying; Zhang, Yuehua; Wang, Minghui; Wang, Jia; Wang, Xiaodong; Platzer, Konrad; Donkervoort, Sandra; Bonnemann, Carsten G.; Wagner, Matias; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Stanley, Valentina; Maroofian, Reza; Gleeson, Joseph G.; Zaki, Maha S.; Senderek, Jan; Pandey, Udai Bhan
NATURE COMMUNICATIONSIF15.7
2021-05-0729OAAIKour, Sukhleen; Rajan, Deepa S.; Fortuna, Tyler R.; Anderson, Eric N.; Ward, Caroline; Lee, Youngha; Lee, Sangmoon; Shin, Yong Beom; Chae, Jong-Hee; Choi, Murim; Siquier, Karine; Cantagrel, Vincent; Amiel, Jeanne; Stolerman, Elliot S.; Barnett, Sarah S.; Cousin, Margot A.; Castro, Diana; McDonald, Kimberly; Kirmse, Brian; Nemeth, Andrea H.; Rajasundaram, Dhivyaa; Innes, A. Micheil; Lynch, Danielle; Frosk, Patrick; Collins, Abigail; Gibbons, Melissa; Yang, Michele; Desguerre, Isabelle; Boddaert, Nathalie; Gitiaux, Cyril; Rydning, Siri Lynne; Selmer, Kaja K.; Urreizti, Roser; Garcia-Oguiza, Alberto; Osorio, Andres Nascimento; Verdura, Edgard; Pujol, Aurora; McCurry, Hannah R.; Landers, John E.; Agnihotri, Sameer; Andriescu, E. Corina; Moody, Shade B.; Phornphutkul, Chanika; Sacoto, Maria J. Guillen; Begtrup, Amber; Houlden, Henry; Kirschner, Janbernd; Schorling, David; Rudnik-Schoeneborn, Sabine; Strom, Tim M.; Leiz, Steffen; Juliette, Kali; Richardson, Randal; Yang, Ying; Zhang, Yuehua; Wang, Minghui; Wang, Jia; Wang, Xiaodong; Platzer, Konrad; Donkervoort, Sandra; Bonnemann, Carsten G.; Wagner, Matias; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Stanley, Valentina; Maroofian, Reza; Gleeson, Joseph G.; Zaki, Maha S.; Senderek, Jan; Pandey, Udai BhanShareSaveRescue of STAT3 Function in Hyper-IgE Syndrome Using Adenine Base Editing2021-04-0112Eberherr, Andreas C.; Maaske, Andre; Wolf, Christine; Giesert, Florian; Berutti, Riccardo; Rusha, Ejona; Pertek, Anna; Kastlmeier, Miriam T.; Voss, Carola; Plummer, Michelle; Sayed, Amina; Graf, Elisabeth; Effner, Renate; Volz, Thomas; Drukker, Micha; Strom, Tim M.; Meitinger, Thomas; Stoeger, Tobias; Buyx, Alena M.; Hagl, Beate; Renner, Ellen D.
2021-04-0112PREAI
Eberherr, Andreas C.; Maaske, Andre; Wolf, Christine; Giesert, Florian; Berutti, Riccardo; Rusha, Ejona; Pertek, Anna; Kastlmeier, Miriam T.; Voss, Carola; Plummer, Michelle; Sayed, Amina; Graf, Elisabeth; Effner, Renate; Volz, Thomas; Drukker, Micha; Strom, Tim M.; Meitinger, Thomas; Stoeger, Tobias; Buyx, Alena M.; Hagl, Beate; Renner, Ellen D.ShareSaveImpaired complex I repair causes recessive Leber?s hereditary optic neuropathy Sarah L. Stenton, ... , Ilka Wittig, Holger Prokisch ...2021-03-1551OAAIStenton, Sarah L.; Sheremet, Natalia L.; Catarino, Claudia B.; Andreeva, Natalia A.; Assouline, Zahra; Barboni, Piero; Barel, Ortal; Berutti, Riccardo; Bychkov, Igor; Caporali, Leonardo; Capristo, Mariantonietta; Carbonelli, Michele; Cascavilla, Maria L.; Issa, Peter Charbel; Freisinger, Peter; Gerber, Sylvie; Ghezzi, Daniele; Graf, Elisabeth; Heidler, Juliana; Hempel, Maja; Heon, Elise; Itkis, Yulya S.; Javasky, Elisheva; Kaplan, Josseline; Kopajtich, Robert; Kornblum, Cornelia; Kovacs-Nagy, Reka; Krylova, Tatiana D.; Kunz, Wolfram S.; La Morgia, Chiara; Lamperti, Costanza; Ludwig, Christina; Malacarne, Pedro F.; Maresca, Alessandra; Mayr, Johannes A.; Meisterknecht, Jana; Nevinitsyna, Tatiana A.; Palombo, Flavia; Pode-Shakked, Ben; Shmelkova, Maria S.; Strom, Tim M.; Tagliavini, Francesca; Tzadok, Michal; van der Ven, Amelie T.; Vignal-Clermont, Catherine; Wagner, Matias; Zakharova, Ekaterina Y.; Zhorzholadze, Nino, V; Rozet, Jean-Michel; Carelli, Valerio; Tsygankova, Polina G.; Klopstock, Thomas; Wittig, Ilka; Prokisch, Holger
2021-03-1551OAAIStenton, Sarah L.; Sheremet, Natalia L.; Catarino, Claudia B.; Andreeva, Natalia A.; Assouline, Zahra; Barboni, Piero; Barel, Ortal; Berutti, Riccardo; Bychkov, Igor; Caporali, Leonardo; Capristo, Mariantonietta; Carbonelli, Michele; Cascavilla, Maria L.; Issa, Peter Charbel; Freisinger, Peter; Gerber, Sylvie; Ghezzi, Daniele; Graf, Elisabeth; Heidler, Juliana; Hempel, Maja; Heon, Elise; Itkis, Yulya S.; Javasky, Elisheva; Kaplan, Josseline; Kopajtich, Robert; Kornblum, Cornelia; Kovacs-Nagy, Reka; Krylova, Tatiana D.; Kunz, Wolfram S.; La Morgia, Chiara; Lamperti, Costanza; Ludwig, Christina; Malacarne, Pedro F.; Maresca, Alessandra; Mayr, Johannes A.; Meisterknecht, Jana; Nevinitsyna, Tatiana A.; Palombo, Flavia; Pode-Shakked, Ben; Shmelkova, Maria S.; Strom, Tim M.; Tagliavini, Francesca; Tzadok, Michal; van der Ven, Amelie T.; Vignal-Clermont, Catherine; Wagner, Matias; Zakharova, Ekaterina Y.; Zhorzholadze, Nino, V; Rozet, Jean-Michel; Carelli, Valerio; Tsygankova, Polina G.; Klopstock, Thomas; Wittig, Ilka; Prokisch, HolgerShareSaveClinically relevant copy-number variants in exome sequencing data of patients with dystonia2021-03-0118Zech, Michael; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Svantnerova, Jana; Wagner, Matias; Dincer, Yasemin; Sadr-Nabavi, Ariane; Serranova, Teresa; Rektorova, Irena; Havrankova, Petra; Ganai, Shahzaman; Mosejova, Alexandra; Prihodova, Iva; Sarlakova, Jana; Kulcsarova, Kristina; Ulmanova, Olga; Bechyne, Karel; Ostrozovicova, Miriam; Han, Vladimir; Ventosa, Joaquim Ribeiro; Shariati, Mohammad; Shoeibi, Ali; Weber, Sandrina; Mollenhauer, Brit; Trenkwalder, Claudia; Berutti, Riccardo; Strom, Tim M.; Ceballos-Baumann, Andres; Mall, Volker; Haslinger, Bernhard; Jech, Robert; Winkelmann, Juliane
2021-03-0118PREAI
Zech, Michael; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Svantnerova, Jana; Wagner, Matias; Dincer, Yasemin; Sadr-Nabavi, Ariane; Serranova, Teresa; Rektorova, Irena; Havrankova, Petra; Ganai, Shahzaman; Mosejova, Alexandra; Prihodova, Iva; Sarlakova, Jana; Kulcsarova, Kristina; Ulmanova, Olga; Bechyne, Karel; Ostrozovicova, Miriam; Han, Vladimir; Ventosa, Joaquim Ribeiro; Shariati, Mohammad; Shoeibi, Ali; Weber, Sandrina; Mollenhauer, Brit; Trenkwalder, Claudia; Berutti, Riccardo; Strom, Tim M.; Ceballos-Baumann, Andres; Mall, Volker; Haslinger, Bernhard; Jech, Robert; Winkelmann, JulianeShareSaveSystemic Jak1 activation provokes hepatic inflammation and imbalanced FGF23 production and cleavageFASEB JOURNAL2021-01-2114OAAIDaryadel, Arezoo; Ruiz, Pedro A.; Gehring, Nicole; Stojanovic, Dragana; Ugrica, Marko; Bettoni, Carla; Sabrautzki, Sibylle; Pastor-Arroyo, Eva-Maria; Frey-Wagner, Isabelle; Lorenz-Depiereux, Bettina; Strom, Tim M.; de Angelis, Martin Hrabe; Rogler, Gerhard; Wagner, Carsten A.; Rubio-Aliaga, Isabel
FASEB JOURNALIF4.2
2021-01-2114OAAIDaryadel, Arezoo; Ruiz, Pedro A.; Gehring, Nicole; Stojanovic, Dragana; Ugrica, Marko; Bettoni, Carla; Sabrautzki, Sibylle; Pastor-Arroyo, Eva-Maria; Frey-Wagner, Isabelle; Lorenz-Depiereux, Bettina; Strom, Tim M.; de Angelis, Martin Hrabe; Rogler, Gerhard; Wagner, Carsten A.; Rubio-Aliaga, IsabelShareSaveBi-allelic truncating mutations in VWA1 cause neuromyopathyBRAIN2021-01-1816OAAIDeschauer, Marcus; Hengel, Holger; Rupprich, Katrin; Kreiss, Martina; Schlotter-Weigel, Beate; Grimmel, Mona; Admard, Jakob; Schneider, Ilka; Alhaddad, Bader; Gazou, Anastasia; Sturm, Marc; Vorgerd, Matthias; Balousha, Ghassan; Balousha, Osama; Falna, Mohammed; Kirschke, Jan S.; Kornblum, Cornelia; Jordan, Berit; Kraya, Torsten; Strom, Tim M.; Weis, Joachim; Schoels, Ludger; Schara, Ulrike; Zierz, Stephan; Riess, Olaf; Meitinger, Thomas; Haack, Tobias B.
BRAINIF11.7
2021-01-1816OAAIDeschauer, Marcus; Hengel, Holger; Rupprich, Katrin; Kreiss, Martina; Schlotter-Weigel, Beate; Grimmel, Mona; Admard, Jakob; Schneider, Ilka; Alhaddad, Bader; Gazou, Anastasia; Sturm, Marc; Vorgerd, Matthias; Balousha, Ghassan; Balousha, Osama; Falna, Mohammed; Kirschke, Jan S.; Kornblum, Cornelia; Jordan, Berit; Kraya, Torsten; Strom, Tim M.; Weis, Joachim; Schoels, Ludger; Schara, Ulrike; Zierz, Stephan; Riess, Olaf; Meitinger, Thomas; Haack, Tobias B.ShareSaveThe genetic landscape of axonal neuropathies in the middle-aged and elderly Focus on MMENEUROLOGY2020-12-1521OAAISenderek, Jan; Lassuthova, Petra; Kabzinska, Dagmara; Abreu, Lisa; Baets, Jonathan; Beetz, Christian; Braathen, Geir J.; Brenner, David; Dalton, Joline; Dankwa, Lois; Deconinck, Tine; De Jonghe, Peter; Draeger, Bianca; Eggermann, Katja; Ellis, Melina; Fischer, Carina; Stojkovic, Tanya; Herrmann, David N.; Horvath, Rita; Hoyer, Helle; Iglseder, Stephan; Kennerson, Marina; Kinslechner, Katharina; Kohler, Jennefer N.; Kurth, Ingo; Laing, Nigel G.; Lamont, Phillipa J.; Loescher, Wolfgang N.; Ludolph, Albert; Marques, Wilson, Jr.; Nicholson, Garth; Ong, Royston; Petri, Susanne; Ravenscroft, Gianina; Rebelo, Adriana; Ricci, Giulia; Rudnik-Schoeneborn, Sabine; Schirmacher, Anja; Schlotter-Weigel, Beate; Schoels, Ludger; Schuele, Rebecca; Synofzik, Matthis; Francou, Bruno; Strom, Tim M.; Wagner, Johannes; Walk, David; Wanschitz, Julia; Weinmann, Daniela; Weishaupt, Jochen; Wiessner, Manuela; Windhager, Reinhard; Young, Peter; Zuechner, Stephan; Toegel, Stefan; Seeman, Pavel; Kochanski, Andrzej; Auer-Grumbach, Michaela
NEUROLOGYIF8.5
2020-12-1521OAAISenderek, Jan; Lassuthova, Petra; Kabzinska, Dagmara; Abreu, Lisa; Baets, Jonathan; Beetz, Christian; Braathen, Geir J.; Brenner, David; Dalton, Joline; Dankwa, Lois; Deconinck, Tine; De Jonghe, Peter; Draeger, Bianca; Eggermann, Katja; Ellis, Melina; Fischer, Carina; Stojkovic, Tanya; Herrmann, David N.; Horvath, Rita; Hoyer, Helle; Iglseder, Stephan; Kennerson, Marina; Kinslechner, Katharina; Kohler, Jennefer N.; Kurth, Ingo; Laing, Nigel G.; Lamont, Phillipa J.; Loescher, Wolfgang N.; Ludolph, Albert; Marques, Wilson, Jr.; Nicholson, Garth; Ong, Royston; Petri, Susanne; Ravenscroft, Gianina; Rebelo, Adriana; Ricci, Giulia; Rudnik-Schoeneborn, Sabine; Schirmacher, Anja; Schlotter-Weigel, Beate; Schoels, Ludger; Schuele, Rebecca; Synofzik, Matthis; Francou, Bruno; Strom, Tim M.; Wagner, Johannes; Walk, David; Wanschitz, Julia; Weinmann, Daniela; Weishaupt, Jochen; Wiessner, Manuela; Windhager, Reinhard; Young, Peter; Zuechner, Stephan; Toegel, Stefan; Seeman, Pavel; Kochanski, Andrzej; Auer-Grumbach, MichaelaShareSaveResearch Directions
No research directions