Sorrentino, Ugo; Pavlov, Martin; Mirza-Schreiber, Nazanin; Brugger, Melanie; Brunet, Theresa; Tsoma, Eugenia; Saparov, Alice; Dzinovic, Ivana; Harrer, Philip; Stehr, Antonia M.; Wagner, Matias; Tilch, Erik; Wallacher, Barbara; Alhasan, Shiraz; Koy, Anne; Di Fonzo, Alessio; Kolnikova, Miriam; Kusikova, Katarina; Havrankova, Petra; Tautanova, Raushana; Losecke, Sandy; Eck, Sebastian; Boesch, Sylvia; Necpal, Jan; Skorvanek, Matej; Jech, Robert; Prokisch, Holger; Winkelmann, Juliane; Oexle, Konrad; Graf, Elisabeth; Zech, Michael

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

作者更正: 将下一代表型整合到超早期疾病患者的国家框架中，可改善遗传诊断并产生新的分子发现

Nature Genetics

IF0

2025-06-240

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

Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy

解析DST相关疾病：影响DST-b的双等位基因变异导致先天性肌病

Brain

IF11.7

2025-06-110

PRE

Maureen Jacob; Heike Kölbel; Philip Harrer; Robert Kopajtich; Pinki Munot; Melanie T Achleitner; Susann Badmann; Melanie Brugger; Theresa Brunet; Gisèle Bonne; Marta Codina; Laura Ebner; Peyman Eshraghi; Katharina Eyring; Ahmad Shah Farhat; René G Feichtinger; Elisabeth Graf; Anna Marcé-Grau; Andreas Hahn; Henry Houlden; Ehsan Ghayoor Karimiani; Véronique Manel; Katharina Mayerhanser; Juliette Nectoux; Isabelle Nelson; Rahul Phadke; Holger Prokisch; Saeid Sadeghian; Alice Saparov; Anne Schänzer; Ulrike Schara-Schmidt; Julia Schmidt; Rahel Schuler; Caroline Sewry; Gholamreza Shariati; Silke Slanz; Dmitrii Smirnov; Rivka Sukenik-Halevy; Homa Tajsharghi; Mehran Beiraghi Toosi; Laura Trujillano; Joachim Weis; Louise C Wilson; Rabah Ben Yaou; Mina Zamani; Michael Zech; Jana Zschüntzsch; Uwe Kornak; David Goméz-Andrés; Reza Maroofian; Juliane Winkelmann; Andreas Roos; Felix Distelmaier; Johannes A Mayr; Matias Wagner

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia

整合基因组学和蛋白质组学揭示了肌张力障碍中难以捉摸的变异和广泛的病因异质性

BRAIN

IF11.7

2025-05-0110

Zech, Michael; Dzinovic, Ivana; Skorvanek, Matej; Harrer, Philip; Necpal, Jan; Kopajtich, Robert; Kittke, Volker; Tilch, Erik; Zhao, Chen; Tsoma, Eugenia; Sorrentino, Ugo; Indelicato, Elisabetta; Stehr, Antonia; Saparov, Alice; Abela, Lucia; Adamovicova, Miriam; Afenjar, Alexandra; Assmann, Birgit; Baloghova, Janette; Baumann, Matthias; Berutti, Riccardo; Brezna, Zuzana; Brugger, Melanie; Brunet, Theresa; Cogne, Benjamin; Colangelo, Isabel; Conboy, Erin; Distelmaier, Felix; Eckenweiler, Matthias; Garavaglia, Barbara; Geerlof, Arie; Graf, Elisabeth; Hackenberg, Annette; Harvanova, Denisa; Haslinger, Bernhard; Havrankova, Petra; Hoffmann, Georg F.; Janzarik, Wibke G.; Keren, Boris; Kolnikova, Miriam; Kolokotronis, Konstantinos; Kosutzka, Zuzana; Koy, Anne; Krenn, Martin; Krygier, Magdalena; Kusikova, Katarina; Maier, Oliver; Meitinger, Thomas; Mertes, Christian; Milenkovic, Ivan; Monfrini, Edoardo; Mourao, Andre Santos Dias; Musacchio, Thomas; Nizon, Mathilde; Ostrozovicova, Miriam; Pavlov, Martin; Prihodova, Iva; Rektorova, Irena; Romito, Luigi M.; Rybanska, Barbora; Sadr-Nabavi, Ariane; Schwenger, Susanne; Shoeibi, Ali; Sitzberger, Alexandra; Smirnov, Dmitrii; Svantnerova, Jana; Tautanova, Raushana; Toelle, Sandra P.; Ulmanova, Olga; Vetrini, Francesco; Vill, Katharina; Wagner, Matias; Weise, David; Zorzi, Giovanna; Di Fonzo, Alessio; Oexle, Konrad; Berweck, Steffen; Mall, Volker; Boesch, Sylvia; Schormair, Barbara; Prokisch, Holger; Jech, Robert; Winkelmann, Juliane

Biallelic variants in CRIPT cause a Rothmund- Thomson-like syndrome with increased cellular senescence

GENETICS IN MEDICINE

IF6.2

2023-07-013

OAAI

Averdunk, Luisa; Huetzen, Maxim A.; Moreno-Andres, Daniel; Kalb, Reinhard; McKee, Shane; Hsieh, Tzung-Chien; Seibt, Annette; Schouwink, Marten; Lalani, Seema; Faqeih, Eissa Ali; Brunet, Theresa; Boor, Peter; Neveling, Kornelia; Hoischen, Alexander; Hildebrandt, Barbara; Graf, Elisabeth; Lu, Linchao; Jin, Weidong; Schaper, Joerg; Omer, Jamal A.; Demaret, Tanguy; Fleischer, Nicole; Schindler, Detlev; Krawitz, Peter; Mayatepek, Ertan; Wieczorek, Dagmar; Wang, Lisa L.; Antonin, Wolfram; Jachimowicz, Ron D.; von Felbert, Verena; Distelmaier, Felix

De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood

GENETICS IN MEDICINE

IF6.2

2023-07-014

Reijnders, Margot R. F.; Seibt, Annette; Brugger, Melanie; Lamers, Ideke J. C.; Ott, Torsten; Klaas, Oliver; Horvath, Judit; Rose, Ailsa M. S.; Craghill, Isabel M.; Brunet, Theresa; Graf, Elisabeth; Mayerhanser, Katharina; Hellebrekers, Debby; Pauck, David; Neuen-Jacob, Eva; Rodenburg, Richard J. T.; Wieczorek, Dagmar; Klee, Dirk; Mayatepek, Ertan; Driessen, Gertjan; Bindermann, Robert; Averdunk, Luisa; Lohmeier, Klaus; Sinnema, Margje; Stegmann, Alexander P. A.; Roepman, Ronald; Poulter, James A.; Distelmaier, Felix

Resistance to mesenchymal reprogramming sustains clonal propagation in metastatic breast cancer

对间充质重编程的抵抗可维持转移性乳腺癌的克隆传播

CELL REPORTS

IF6.9

2023-06-018

Saini, Massimo; Schmidleitner, Laura; Moreno, Helena Dominguez; Donato, Elisa; Falcone, Mattia; Bartsch, Johanna M.; Klein, Corinna; Vogel, Vanessa; Wuerth, Roberto; Pfarr, Nicole; Espinet, Elisa; Lehmann, Mareike; Koenigshoff, Melanie; Reitberger, Manuel; Haas, Simon; Graf, Elisabeth; Schwarzmayr, Thomas; Strom, Tim-Matthia; Spaich, Saskia; Suetterlin, Marc; Schneeweiss, Andreas; Weichet, Wilko; Schotta, Gunnar; Reichert, Maximilia; Aceto, Nicola; Sprick, Martin R.; Trumpp, Andreas; Scheel, Christina H.

PARKINSONISM & RELATED DISORDERS

IF3.4

2023-04-014

PRE

Fast versus slow disease progression in amyotrophic lateral sclerosis-clinical and genetic factors at the edges of the survival spectrum

肌萎缩性侧索硬化症的快速与缓慢疾病进展-生存谱边缘的临床和遗传因素

NEUROBIOLOGY OF AGING

IF3.5

2022-11-015

PRE

Multi-omics profiling identifies a deregulated FUS-MAP1B axis in ALS/FTD-associated UBQLN2 mutants

LIFE SCIENCE ALLIANCE

IF2.9

2022-07-015

OAAI

Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders

HUMAN MOLECULAR GENETICS

IF3.2

2022-02-185

A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype

EPILEPSIA

IF6.6

2022-02-1210

OAAI

Rescue of STAT3 Function in Hyper-IgE Syndrome Using Adenine Base Editing

CRISPR JOURNAL

IF4

2021-04-0112

PRE

Endogenous FGF21-signaling controls paradoxical obesity resistance of UCP1-deficient mice (vol 11, 624, 2020)

NATURE COMMUNICATIONS

IF15.7

2021-03-162

OAAI

Impaired complex I repair causes recessive Leber?s hereditary optic neuropathy Sarah L. Stenton, ... , Ilka Wittig, Holger Prokisch ...

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2021-03-1551

OAAI

Stenton, 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

Elisabeth Graf

个人简介

教育背景

工作经历

荣誉奖项

研究方向