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S

Saskia B. Wortmann

paracelsus private medical university
H指数:50
被引数:7,636

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荣誉奖项

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Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl‐ tRNA Synthetase Deficiencies

针对线粒体氨酰-tRNA合成酶缺乏的儿科患者的定制氨基酸治疗

Journal of Inherited Metabolic Disease
IF3.8
2026-10-120
OA
I. J. J. Muffels; G. Kok; Z. Tang; L. S. Medeiros; F. O. Poswar; W. P. Vermeij; R. Rodenburg; K. Smit; S. K. Sukumaran; S. B. Wortmann; L. Averdunk; J. Munch; J. Pak‐lam Ho; A. M. K. Kwok; E. E. S. Nieuwenhuis; P. M. van Hasselt; I. V. D. Schwartz; C. M. A. Lubout; A. M. Bosch; K. Koop; E. M. M. Hoytema van Konijnenburg; S. A. Fuchs
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study

SERAC1相关MEGD(H)EL综合征的听力康复——来自多中心回顾性队列研究的启示

Molecular Genetics and Metabolism
IF3.5
2025-07-210
OAAI
Sebastian Roesch; Anna O'Sullivan; Stefan Tschani; Anna Baghdasaryan; Shanti Balasubramaniam; Ivo Barić; Lonneke de Boer; Sarah C. Grünert; Anna Guzek; Mirian Janssen; Zita Krumina; Mary Kay Koenig; Ashleigh M. Lewkowitz; Fanny Mochel; Arianne Monge Naldi; Barbara Plecko; Kerem Öztürk; Lauren O'Grady; Gillian Riordan; Daisy Rymen; Inderneel Sahai; René Santer; Manuel Schiff; Georg M. Stettner; Konstantinos Tsiakas; Sema Kalkan Uçar; Özlem Ünal Uzun; Corina Weigel; Peter Witters; Kajus Merkevicius; Johannes A. Mayr; Saskia B. Wortmann; Katarzyna Iwanicka-Pronicka
Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease

扩展POLRMT相关线粒体疾病的遗传和表型谱

Clinical Genetics
IF2.3
2025-06-290
OA
Mahmoud R. Fassad; Sebastian Valenzuela; Monika Oláhová; Jack J. Collier; Charlotte V. Y. Knowles; Eleni Mavraki; Miriam Elbracht; Nergis Güzel; Thomas Herberhold; Ingo Kurth; Andrea Maier; Larissa Mattern; Carol Saunders; Helen McCullagh; Katrin Õunap; Saskia B. Wortmann; Andre Reis; Lei Zhang; Claes M. Gustafsson; Robert McFarland; Robert W. Taylor
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
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing

基因组和RNA测序对于揭示与缺陷ATP6AP1 mRNA加工相关的隐性内含子变体至关重要

MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-07-012
PRE
Morales-Romero, Blai; Munoz-Pujol, Gerard; Artuch, Rafael; Garcia-Cazorla, Angels; O'Callaghan, Mar; Sykut-Cegielska, Jolanta; Campistol, Jaume; Moreno-Lozano, Pedro Juan; Oud, Machteld M.; Wevers, Ron A.; Lefeber, Dirk J.; Esteve-Codina, Anna; Yepez, Vicente A.; Gagneur, Julien; Wortmann, Saskia B.; Prokisch, Holger; Ribes, Antonia; Garcia-Villoria, Judit; Tort, Frederic
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b

依帕列净治疗21例糖原贮积病1b婴儿的中性粒细胞减少和中性粒细胞功能障碍

MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-06-011
OAAI
Gruenert, Sarah C.; Gautschi, Matthias; Baker, Joshua; Boyer, Monica; Burlina, Alberto; Casswall, Thomas; Corpeleijn, Willemijn; Ciki, Kismet; Cotter, Melanie; Crushell, Ellen; Derks, Terry G. J.; Haas, Dorothea; Kilavuz, Sebile; Kingma, Sandra D. K.; Korman, Stanley H.; Kozek, Anne; de Laet, Corinne; Mundy, Helen; Nassogne, Marie Cecile; Quintero, Victor; Rossi, Alessandro; Spenger, Johannes; Spiegel, Ronen; Stephenne, Xavier; Stojkov, Darko; Tal, Galit; Cunha, Maria Veiga-da; Wortmann, Saskia B.
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.
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant

以m.11778G为背景的Digenic Leigh综合征> Leber遗传性视神经病变变体

BRAIN
IF11.7
2024-03-134
OAAI
Blickhaeuser, Beryll; Stenton, Sarah L.; Neuhofer, Christiane M.; Floride, Elisa; Nesbitt, Victoria; Fratter, Carl; Koch, Johannes; Kauffmann, Birgit; Catarino, Claudia; Schlieben, Lea Dewi; Kopajtich, Robert; Carelli, Valerio; Sadun, Alfredo A.; McFarland, Robert; Fang, Fang; La Morgia, Chiara; Paquay, Stephanie; Nassogne, Marie Cecile; Ghezzi, Daniele; Lamperti, Costanza; Wortmann, Saskia; Poulton, Jo; Klopstock, Thomas; Prokisch, Holger
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
Treatment recommendations for glycogen storage disease type IB-associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop
MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-03-017
OAAI
Gruenert, Sarah C.; Derks, Terry G. J.; Mundy, Helen; Dalton, R. Neil; Donadieu, Jean; Hofbauer, Peter; Jones, Neil; Ucar, Sema Kalkan; LaFreniere, Jamas; Contreras, Enrique Landelino; Pendyal, Surekha; Rossi, Alessandro; Schneider, Blair; Spiegel, Ronen; Stepien, Karolina M.; Wesol-Kucharska, Dorota; Veiga-da-Cunha, Maria; Wortmann, Saskia B.

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
H
Holger Prokisch
H 指数:100论文数:657被引数:4.8万
M
Matias Wagner
H 指数:37论文数:260被引数:4,643
R
Richard J. Rodenburg
H 指数:74论文数:378被引数:1.7万
R
René G. Feichtinger
H 指数:40论文数:152被引数:5,319
É
Éva Morava
H 指数:70论文数:581被引数:1.6万
R
Ron A. Wevers
H 指数:89论文数:713被引数:2.9万
J
Jan Smeıtınk
H 指数:92论文数:468被引数:3.1万
T
Tobias B. Haack
H 指数:69论文数:471被引数:1.5万
R
Robert W. Taylor
H 指数:97论文数:763被引数:3.9万