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Saskia B. Wortmann
Saskia B. Wortmann
University Children‘s Hospital, PMU Salzburg, Austria
Verified email at salk.at
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Cited by
Cited by
Year
A Post‐Hoc Comparison of the Utility of S anger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
K Neveling, I Feenstra, C Gilissen, LH Hoefsloot, EJ Kamsteeg, ...
Human mutation 34 (12), 1721-1726, 2013
3942013
Whole exome sequencing of suspected mitochondrial patients in clinical practice
SB Wortmann, DA Koolen, JA Smeitink, L van den Heuvel, RJ Rodenburg
Journal of inherited metabolic disease 38, 437-443, 2015
2512015
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
SB Wortmann, FM Vaz, T Gardeitchik, LELM Vissers, GH Renkema, ...
Nature genetics 44 (7), 797-802, 2012
2232012
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients
KLM Coene, LAJ Kluijtmans, E van der Heeft, UFH Engelke, S de Boer, ...
Journal of inherited metabolic disease 41, 337-353, 2018
1672018
Monogenic variants in dystonia: an exome-wide sequencing study
M Zech, R Jech, S Boesch, M Škorvánek, S Weber, M Wagner, C Zhao, ...
The Lancet Neurology 19 (11), 908-918, 2020
1502020
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
SB Wortmann, S Ziętkiewicz, M Kousi, R Szklarczyk, TB Haack, ...
The American Journal of Human Genetics 96 (2), 245-257, 2015
1252015
Dimerization of the cytokine receptors gp130 and LIFR analysed in single cells
B Giese, C Roderburg, M Sommerauer, SB Wortmann, S Metz, ...
Journal of cell science 118 (21), 5129-5140, 2005
1252005
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy
P Smits, A Saada, SB Wortmann, AJ Heister, M Brink, R Pfundt, C Miller, ...
European journal of human genetics 19 (4), 394-399, 2011
1182011
The natural history of classic galactosemia: lessons from the GalNet registry
ME Rubio-Gozalbo, M Haskovic, AM Bosch, B Burnyte, AI Coelho, ...
Orphanet journal of rare diseases 14, 1-11, 2019
1152019
CAD mutations and uridine-responsive epileptic encephalopathy
J Koch, JA Mayr, B Alhaddad, C Rauscher, J Bierau, R Kovacs-Nagy, ...
Brain 140 (2), 279-286, 2017
1132017
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature
SB Wortmann, M Duran, Y Anikster, PG Barth, W Sperl, J Zschocke, ...
Journal of inherited metabolic disease 36, 923-928, 2013
1132013
The 3-methylglutaconic acidurias: what’s new?
SB Wortmann, LA Kluijtmans, UFH Engelke, RA Wevers, E Morava
Journal of inherited metabolic disease 35, 13-22, 2012
1122012
Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor
SB Wortmann, JLK Van Hove, TGJ Derks, N Chevalier, V Knight, A Koller, ...
Blood, The Journal of the American Society of Hematology 136 (9), 1033-1043, 2020
1092020
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy
SB Wortmann, RJT Rodenburg, A Jonckheere, MC De Vries, M Huizing, ...
Brain 132 (1), 136-146, 2009
1082009
Major depression in adolescent children consecutively diagnosed with mitochondrial disorder
S Koene, TL Kozicz, RJT Rodenburg, CM Verhaak, MC De Vries, ...
Journal of affective disorders 114 (1-3), 327-332, 2009
1042009
3‐Methylglutaconic aciduria—lessons from 50 genes and 977 patients
SB Wortmann, LAJ Kluijtmans, RJ Rodenburg, JO Sass, J Nouws, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2013
1022013
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
L Snijders Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, ...
Nature communications 9 (1), 4619, 2018
952018
Molecular structural diversity of mitochondrial cardiolipins
G Oemer, K Lackner, K Muigg, G Krumschnabel, K Watschinger, S Sailer, ...
Proceedings of the National Academy of Sciences 115 (16), 4158-4163, 2018
932018
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening
TB Haack, M Gorza, K Danhauser, JA Mayr, B Haberberger, T Wieland, ...
Molecular genetics and metabolism 111 (3), 342-352, 2014
932014
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
VA Yépez, M Gusic, R Kopajtich, C Mertes, NH Smith, CL Alston, R Ban, ...
Genome medicine 14 (1), 38, 2022
912022
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