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R

Riccardo Berutti

center for advanced studies

29H-index
99Paper Count
3.7KCitation Count
Published Papers 46
Publication Date
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FLASH radiotherapy preserves systemic and tissue homeostasis while maintaining antitumor efficacy
errBMC Medicine
IF8.3
err2026-02-26
err0
errOAAI
errGiulia Furini; Eduarda Mota da Silva; Alice Usai; Gaia Scabia; Claudia Kusmic; Francesco Faita; Andrea Cavalieri; Mariagrazia Celentano; Mario Costa; Filippo Rossi; Giulia Asero; Roberta Di Pietro; Emanuela Guerra; Stefano Lattanzio; Tonia Luca; Sergio Castorina; Roberto Cusano; Riccardo Berutti; Jessica Milia; Simone Capaccioli; Alessandra Gonnelli; Noemi Giannini; Fabiola Paiar; Saverio Cinti; Fabio Di Martino; Margherita Maffei
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De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders
errAmerican Journal of Medical Genetics Part A
IF1.7
err2025-10-01
err0
errOAAI
errBrunet, Theresa; Zech, Michael; Schatz, Ulrich A.; Adamovicova, Miriam; Wagner, Matias; Graf, Elisabeth; Berutti, Riccardo; Weigand, Heike; Jech, Robert; Meitinger, Thomas; Winkelmann, Juliane; Brugger, Melanie
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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
errNature Genetics
IF0
err2025-06-24
err0
errOAAI
errAxel 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
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Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia
errBRAIN
IF11.7
err2025-05-01
err10
errOAAI
errZech, 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
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Estimating Lifetime Risk of Autosomal Recessive Kidney Diseases Using Population-Based Genotypic Data
errKidney International Reports
IF5.7
err2025-04-21
err0
errOAAI
errMatthias Christoph Braunisch; Clara M. Großewinkelmann; Martin Menke; Nora Hannane; Riccardo Berutti; Jasmina Ćomić; Roman Günthner; Lutz Renders; Christoph Schmaderer; Uwe Heemann; Korbinian M. Riedhammer; Matias Wagner; Julia Hoefele
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HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy
errJOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
err2024-08-07
err1
errOAAI
errRoos, 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
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Genetic landscape of pediatric acute liver failure of indeterminate origin
errHEPATOLOGY
IF15.8
err2023-11-16
err8
errOAAI
errLenz, Dominic; Schlieben, Lea D.; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Ruediger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E.; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Birute, Burnyte; Calvo, Pier L.; Crushell, Ellen; Dalgic, Buket; Das, Anibh M.; Dezsofi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F.; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaclioglu, Ceyda T.; Knoppke, Birgit; Kohl, Martina; Koelbel, Heike; Koelker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloglu, Zarife; Kuster, Alice; Laass, Martin W.; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A.; McKiernan, Patrick; McClean, Patricia; McLin, Valerie; Mention, Karine; Mueller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petkovic Ramadza, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnes; Santer, Rene; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W.; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B.; Zakharova, Ekaterina; Hoffmann, Georg F.; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger
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Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes (vol 17, 55, 2023)
errHUMAN GENOMICS
IF4.3
err2023-08-28
err1
errOAAI
errSilvaieh, Sara; Koenig, Theresa; Wurm, Raphael; Parvizi, Tandis; Berger-Sieczkowski, Evelyn; Goeschl, Stella; Hotzy, Christoph; Wagner, Matias; Berutti, Riccardo; Sammler, Esther; Stoegmann, Elisabeth; Zimprich, Alexander
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Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction
errMOVEMENT DISORDERS
IF7.6
err2023-07-23
err3
errOAAI
errHarrer, Philip; Skorvanek, Matej; Kittke, Volker; Dzinovic, Ivana; Borngraeber, Friederike; Thomsen, Mirja; Mandel, Vanessa; Svorenova, Tatiana; Ostrozovicova, Miriam; Kulcsarova, Kristina; Berutti, Riccardo; Busch, Hauke; Ott, Fabian; Kopajtich, Robert; Prokisch, Holger; Kumar, Kishore R.; Mencacci, Niccolo E.; Kurian, Manju A.; Di Fonzo, Alessio; Boesch, Sylvia; Kuehn, Andrea A.; Bluemlein, Ulrike; Lohmann, Katja; Haslinger, Bernhard; Weise, David; Jech, Robert; Winkelmann, Juliane; Zech, Michael
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Episignature analysis of moderate effects and mosaics
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2023-06-26
err12
errOAAI
errOexle, Konrad; Zech, Michael; Stuehn, Lara G.; Siegert, Sandy; Brunet, Theresa; Schmidt, Wolfgang M.; Wagner, Matias; Schmidt, Axel; Engels, Hartmut; Tilch, Erik; Monestier, Olivier; Destree, Anne; Hanker, Britta; Boesch, Sylvia; Jech, Robert; Berutti, Riccardo; Kaiser, Frank; Haslinger, Bernhard; Haack, Tobias B.; Garavaglia, Barbara; Krawitz, Peter; Winkelmann, Juliane; Mirza-Schreiber, Nazanin
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errSave
Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes
errHUMAN GENOMICS
IF4.3
err2023-06-17
err1
errOAAI
errSilvaieh, Sara; Koenig, Theresa; Wurm, Raphael; Parvizi, Tandis; Berger-Sieczkowski, Evelyn; Goeschl, Stella; Hotzy, Christoph; Wagner, Matias; Berutti, Riccardo; Sammler, Esther; Stoegmann, Elisabeth; Zimprich, Alexander
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Reply to Li and Colleagues
errJNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
IF7.2
err2023-04-02
err1
errOAAI
errKratz, Christian P.; Smirnov, Dmitrii; Autry, Robert; Jaeger, Natalie; Waszak, Sebastian M.; Grosshennig, Anika; Berutti, Riccardo; Wendorff, Mareike; Hainaut, Pierre; Pfister, Stefan M.; Prokisch, Holger; Ripperger, Tim; Malkin, David
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errSave
TAOK1-related neurodevelopmental disorder: A new differential diagnosis for childhood-onset tremor?
errPARKINSONISM & RELATED DISORDERS
IF3.4
err2023-04-01
err4
PREAI
errBlaschek, Astrid; Sitzberger, Alexandra; Brugger, Melanie; Graf, Elisabeth; Berutti, Riccardo; Zech, Michael; Vill, Katharina
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Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2023-03-16
err7
errOAAI
errRiedhammer, Korbinian M.; Comic, Jasmina; Tasic, Velibor; Putnik, Jovana; Abazi-Emini, Nora; Paripovic, Aleksandra; Stajic, Natasa; Meitinger, Thomas; Nushi-Stavileci, Valbona; Berutti, Riccardo; Braunisch, Matthias C.; Hoefele, Julia
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Reply to Evans and Woodward
errJNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
IF7.2
err2022-12-10
err1
errOAAI
errKratz, Christian P.; Smirnov, Dmitrii; Autry, Robert; Jaeger, Natalie; Waszak, Sebastian M.; Grosshennig, Anika; Berutti, Riccardo; Wendorff, Mareike; Hainaut, Pierre; Pfister, Stefan M.; Prokisch, Holger; Ripperger, Tim; Malkin, David
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errSave
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions
errANNALS OF NEUROLOGY
IF7.7
err2022-11-18
err8
errOAAI
errHarrer, Philip; Schalk, Audrey; Shimura, Masaru; Baer, Sarah; Calmels, Nadege; Spitz, Marie Aude; Warde, Marie-Therese Abi; Schaefer, Elise; Kittke, Volker M. Sc; Dincer, Yasemin; Wagner, Matias; Dzinovic, Ivana; Berutti, Riccardo; Sato, Tatsuharu; Shirakawa, Toshihiko; Okazaki, Yasushi; Murayama, Kei; Oexle, Konrad; Prokisch, Holger; Mall, Volker; Melcak, Ivo; Winkelmann, Juliane; Zech, Michael
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Fast versus slow disease progression in amyotrophic lateral sclerosis-clinical and genetic factors at the edges of the survival spectrum
errNEUROBIOLOGY OF AGING
IF3.5
err2022-11-01
err5
PREAI
errWitzel, Simon; Wagner, Matias; Zhao, Chen; Kandler, Katharina; Graf, Elisabeth; Berutti, Riccardo; Oexle, Konrad; Brenner, David; Winkelmann, Juliane; Ludolph, Albert C.
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The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy-A human genetics department experience
errFRONTIERS IN MEDICINE
IF3
err2022-08-31
err5
errOAAI
errComic, Jasmina; Riedhammer, Korbinian M.; Guenthner, Roman; Schaaf, Christian W.; Richthammer, Patrick; Simmendinger, Hannes; Kieffer, Donald; Berutti, Riccardo; Tasic, Velibor; Abazi-Emini, Nora; Nushi-Stavileci, Valbona; Putnik, Jovana; Stajic, Natasa; Lungu, Adrian; Gross, Oliver; Renders, Lutz; Heemann, Uwe; Braunisch, Matthias C.; Meitinger, Thomas; Hoefele, Julia
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Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer
errJNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
IF7.2
err2022-08-18
err26
errOAAI
errKratz, Christian P.; Smirnov, Dmitrii; Autry, Robert; Jaeger, Natalie; Waszak, Sebastian M.; Grosshennig, Anika; Berutti, Riccardo; Wendorff, Mareike; Hainaut, Pierre; Pfister, Stefan M.; Prokisch, Holger; Ripperger, Tim; Malkin, David
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Multi-omics profiling identifies a deregulated FUS-MAP1B axis in ALS/FTD-associated UBQLN2 mutants
errLIFE SCIENCE ALLIANCE
IF2.9
err2022-07-01
err5
errOAAI
errStrohm, Laura; Hu, Zehan; Suk, Yongwon; Ruehmkorf, Alina; Sternburg, Erin; Gattringer, Vanessa; Riemenschneider, Henrick; Berutti, Riccardo; Graf, Elisabeth; Weishaupt, Jochen H.; Brill, Monika S.; Harbauer, Angelika B.; Dormann, Dorothee; Dengjel, Jorn; Edbauer, Dieter; Behrends, Christian
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Research Directions

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Co-authors
Cooperation Journals
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H-index: 250 · Papers: 1.4K
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Gonçalo R. Abecasis
H-index: 204 · Papers: 846
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Thomas Meitinger
H-index: 168 · Papers: 957
M
Markus M. Nöthen
H-index: 161 · Papers: 2.0K
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Stefan M. Pfister
H-index: 159 · Papers: 2.1K
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