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R

René G. Feichtinger

paracelsus medical university
H指数:40
被引数:5,319

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From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease

从基因型到表型：63例CLPB相关线粒体疾病中合子特异性的见解

Molecular Genetics and Metabolism
IF3.5
2026-02-120
OAAI
Oliver Heath; Francisco Del Caño-Ochoa; Safa Baris; Rosalba Carrozzo; David Coman; Felix Distelmaier; Carolyn Ellaway; Rene G. Feichtinger; Andrea Finocchi; Sergio Guerrero-Castillo; Rebecca Halligan; Iris Hannibal; Amy Kritzer; Uta Lichter-Konecki; Kajus Merkevicius; Bianca Panis; Robert D.S. Pitceathly; Chiara Pizzamiglio; Katarzyna Iwanicka-Pronicka; Shamima Rahman
De novo missense variants in BAIAP2 are associated with developmental and epileptic encephalopathies

BAIAP2基因中的新发错义变异与发育性癫痫性脑病相关联

Epilepsia
IF6.6
2025-10-240
PRE
Gang Zhang; Yaping Lu; Lingling Xie; Anaïs Begemann; Sorina M. Papuc; Markus Zweier; Katharina Steindl; Anita Rauch; Johannes Adalbert Mayr; Johannes Koch; René Günther Feichtinger; Frances Elmslie; Luise Kulosik; Rami Abou Jamra; Stefani Harmsen; Shangyu Wang; Mingying He; Luyan Zhang; Wei Zhou; Chunli Wang; Xiuxiu Liu; Aihua Zhang; Bixia Zheng
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
Mitochondrial Oxidative Phosphorylation Alterations in Placental Tissues from Early- and Late-Onset Preeclampsia

早发型与晚发型子痫前期胎盘组织中线粒体氧化磷酸化改变

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
IF4.9
2025-04-220
OA
Lehenauer, Theresa; Jaksch-Bogensperger, Heidi; Huber, Sara; Weghuber, Daniel; Fischer, Thorsten; Mayr, Johannes A.; Kofler, Barbara; Neumayer, Bettina; Gharehbaghi, Daniel; Duggan-Peer, Michaela; Brandstetter, Maximilian; Fazelnia, Claudius; Feichtinger, Rene G.
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

CUL3中的功能丧失变体导致综合征性神经发育障碍

ANNALS OF NEUROLOGY
IF7.7
2024-09-202
PRE
Blackburn, Patrick R.; Ebstein, Frederic; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C.; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Benedicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogne, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S.; Rosenfeld, Jill A.; Faivre, Laurence; Mau-Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B.; Madden, Jill A.; Goldenberg, Alice; Lecoquierre, Francois; Zech, Michael; Prokisch, Holger; Necpal, Jan; Jech, Robert; Winkelmann, Juliane; Koprusakova, Monika Turcanova; Konstantopoulou, Vassiliki; Younce, John R.; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F.; Lerner-Ellis, Jordan; Ditroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P. A.; van Der Schoot, Vyne; Brunet, Theresa; Bussmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B.; Mayr, Johannes A.; Feichtinger, Rene G.; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N.; Klee, Eric W.; Grand, Katheryn; Sanchez-Lara, Pedro A.; Krueger, Elke; Bezieau, Stephane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E.; Tartaglia, Marco; Kuery, Sebastien; Wang, Tianyun
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants

由单等位基因HK1变体引起的神经发育障碍的临床，神经影像学和代谢足迹

NEUROLOGY-GENETICS
IF3.7
2024-04-013
OAAI
Wortmann, Saskia B.; Feichtinger, Rene G.; Abela, Lucia; van Gemert, Loes A.; Aubart, Melodie; Dufeu-Berat, Claire-Marine; Boddaert, Nathalie; de Coo, Rene; Stuehn, Lara; Hebbink, Jasmijn; Heinritz, Wolfram; Hildebrandt, Julia; Himmelreich, Nastassja; Korenke, Christoph; Lehman, Anna; Leyland, Thomas; Makowski, Christine; Martinez Marin, Rafael Jenaro; Marzin, Pauline; Muehlhausen, Chris; Rio, Marlene; Rotig, Agnes; Roux, Charles-Joris; Schiff, Manuel; Haack, Tobias B.; Syrbe, Steffen; Zylicz, Stas A.; Thiel, Christian; Veiga da Cunha, Maria; van Schaftingen, Emile; Wagner, Matias; Mayr, Johannes A.; Wevers, Ron A.; Boltshauser, Eugen; Willemsen, Michel A.
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability
JOURNAL OF MEDICAL GENETICS
IF3.7
2024-03-081
OAAI
Smith, Claire E. L.; Laugel-Haushalter, Virginie; Hany, Ummey; Best, Sunayna; Taylor, Rachel L.; Poulter, James A.; Wortmann, Saskia B.; Feichtinger, Rene G.; Mayr, Johannes A.; Al Bahlani, Suhaila; Nikolopoulos, Georgios; Rigby, Alice; Black, Graeme C.; Watson, Christopher M.; Mansour, Sahar; Inglehearn, Chris F.; Mighell, Alan J.; Bloch-Zupan, Agnes
Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death
JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2024-01-165
OAAI
Weis, Denisa; Lin, Liangguang L.; Wang, Huilun H.; Li, Zexin Jason; Kusikova, Katarina; Ciznar, Peter; Wolf, Hermann M.; Leiss-Piller, Alexander; Wang, Zhihong; Wei, Xiaoqiong; Weis, Serge; Skalicka, Katarina; Hrckova, Gabriela; Danisovic, Lubos; Soltysova, Andrea; Yang, Tingxuan T.; Feichtinger, Rene Gunther; Mayr, Johannes A.; Qi, Ling
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants (vol 25, 100314, 2023)
GENETICS IN MEDICINE
IF6.2
2023-06-012
OAAI
Vogel, Georg F.; Mozer-Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, Rene G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schroter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; Darin, Niklas; Della Marina, Adela; Distelmaier, Felix; Eklund, Erik A.; Ersoy, Melike; Fang, Weiyan; Gaignard, Pauline; Ganetzky, Rebecca D.; Gonzales, Emmanuel; Howard, Caoimhe; Hughes, Joanne; Konstantopoulou, Vassiliki; Kose, Melis; Kerr, Marina; Khan, Aneal; Lenz, Dominic; McFarland, Robert; Margolis, Merav Gil; Morrison, Kevin; Mueller, Thomas; Murayama, Kei; Nicastro, Emanuele; Pennisi, Alessandra; Peters, Heidi; Piekutowska-Abramczuk, Dorota; Rotig, Agnes; Santer, Rene; Scaglia, Fernando; Schiff, Manuel; Shagrani, Mohmmad; Sharrard, Mark; Soler-Alfonso, Claudia; Staufner, Christian; Storey, Imogen; Stormon, Michael; Taylor, Robert W.; Thorburn, David R.; Teles, Elisa Leao; Wang, Jian-She; Weghuber, Daniel; Wortmannd, Saskia
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
GENETICS IN MEDICINE
IF6.2
2023-06-019
OA
Vogel, Georg F.; Mozer-Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, Rene G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schroeter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; Darin, Niklas; Della Marina, Adela; Distelmaier, Felix; Eklund, Erik A.; Ersoy, Melike; Fang, Weiyan; Gaignard, Pauline; Ganetzky, Rebecca D.; Gonzales, Emmanuel; Howard, Caoimhe; Hughes, Joanne; Konstantopoulou, Vassiliki; Kose, Melis; Kerr, Marina; Khan, Aneal; Lenz, Dominic; McFarland, Robert; Margolis, Merav Gil; Morrison, Kevin; Mueler, Thomas; Murayama, Kei; Nicastro, Emanuele; Pennisi, Alessandra; Peters, Heidi; Piekutowska-Abramczuk, Dorota; Roetig, Agnes; Santer, Rene; Scaglia, Fernando; Sehiff, Manuel; Shagrani, Mohmmad; Sharrard, Mark; Soler-Alfonso, Claudia; Staufner, Christian; Storey, Imogen; Stormon, Michael; Taylor, Robert W.; Thorburn, David R.; Teles, Elisa Leao; Wang, Jian-She; Weghuber, Daniel; Wortmann, Saskia

研究方向

暂未获取到该数据
J
Johannes A. Mayr
H 指数:68论文数:389被引数:1.2万
B
Barbara Kofler
H 指数:47论文数:261被引数:7,743
H
Holger Prokisch
H 指数:100论文数:657被引数:4.8万
W
Wolfgang Sperl
H 指数:64论文数:381被引数:1.1万
S
Saskia B. Wortmann
H 指数:50论文数:260被引数:7,636
T
Tobias B. Haack
H 指数:69论文数:471被引数:1.5万
F
Franz Zimmermann
H 指数:25论文数:107被引数:2,492
A
Agnès Rötig
H 指数:85论文数:371被引数:2.4万
R
Robert W. Taylor
H 指数:97论文数:763被引数:3.9万
D
Daniel Neureiter
H 指数:49论文数:442被引数:8,452