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S. Wortmann · SciRah

Researcher profile · Semantic Scholar

S. Wortmann

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S. Wortmann — researcher profile on SciRah

h-index: 48
Works: 199
Citations: 6,752

Most-cited papers

Monogenic variants in dystonia: an exome-wide sequencing study
M. Zech, R. Jech, S. Boesch, M. Škorvánek +107 more
2020Lancet Neurology190 citations Open access
Semantic Scholar
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
V. Yépez, Mirjana Gusic, R. Kopajtich, C. Mertes +49 more
2021Genome Medicine179 citations Open access
Semantic Scholar
Treating neutropenia and neutrophil dysfunction in glycogen storage disease IB with an SGLT2-inhibitor.
S. Wortmann, J. V. Van Hove, T. Derks, Nathalie Chevalier +9 more
2020Blood130 citations Open access
Semantic Scholar
Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome
Gizem Inak, A. Rybak-Wolf, P. Lisowski, T. Pentimalli +29 more
2021Nature Communications114 citations Open access
Semantic Scholar
Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app
Eva M. M. Hoytema van Konijnenburg, S. Wortmann, M. Koelewijn, Laura A. Tseng +4 more
2021Orphanet Journal of Rare Diseases86 citations Open access
Semantic Scholar
Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety
H. Zweers, A. V. van Wegberg, M. Janssen, S. Wortmann
2021Orphanet Journal of Rare Diseases63 citations Open access
Semantic Scholar
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
S. C. Grünert, T. Derks, Katarina Adrian, K. Al-Thihli +60 more
2022Genetics in Medicine60 citations Open access
Semantic Scholar
How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
S. Wortmann, M. Oud, M. Alders, K. Coene +17 more
2022Journal of Inherited Metabolic Disease60 citations Open access
Semantic Scholar
Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib
S. C. Grünert, R. Elling, Bärbel Maag, S. Wortmann +5 more
2020Orphanet Journal of Rare Diseases52 citations Open access
Semantic Scholar
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases
Jing Tan, M. Wagner, S. L. Stenton, T. Strom +5 more
2020EBioMedicine50 citations Open access
Semantic Scholar
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
Ralf A. Husain, M. Grimmel, M. Wagner, J. Hennings +42 more
2020American Journal of Human Genetics47 citations Open access
Semantic Scholar
Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders
R. Kopajtich, Dmitrii Smirnov, S. L. Stenton, Stefan Loipfinger +38 more
2021medRxiv43 citations Open access
Semantic Scholar
Delineating MT-ATP6-associated disease
C. Stendel, C. Neuhofer, E. Floride, Yuqing Shi +19 more
2020Neurology: Genetics42 citations Open access
Semantic Scholar
Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors
M. Veiga-da-Cunha, S. Wortmann, S. C. Grünert, E. Van Schaftingen
2023Diagnostics38 citations Open access
Semantic Scholar
Variants in mitochondrial ATP synthase cause variable neurologic phenotypes
M. Zech, R. Kopajtich, K. Steinbrücker, C. Bris +30 more
2021Annals of Neurology36 citations Open access
Semantic Scholar
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
S. Wortmann, S. Ziętkiewicz, Sergio Guerrero‐Castillo, R. Feichtinger +22 more
2021Genetics in Medicine36 citations Open access
Semantic Scholar
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1
D. Lenz, Desirée E. C. Smith, E. Crushell, Ralf A. Husain +36 more
2020Genetics in Medicine36 citations Open access
Semantic Scholar
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Chiara Klöckner, H. Sticht, P. Zacher, B. Popp +54 more
2020Genetics in Medicine35 citations Open access
Semantic Scholar
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction
Daan M. Panneman, S. Wortmann, C. Haaxma, P. V. van Hasselt +12 more
2020Clinical Genetics33 citations Open access
Semantic Scholar
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes
Zheng Yie Yap, Yookoon Park, S. Wortmann, A. Gunning +16 more
2021Genome Medicine32 citations Open access
Semantic Scholar
A spoonful of L‐fucose—an efficient therapy for GFUS‐CDG, a new glycosylation disorder
R. Feichtinger, Andreas Hüllen, A. Koller, D. Kotzot +7 more
2021EMBO Molecular Medicine32 citations Open access
Semantic Scholar
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus
M. Wagner, J. Lévy, S. Jung-Klawitter, S. Bakhtiari +28 more
2020Genetics in Medicine32 citations Open access
Semantic Scholar
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation
D. Rymen, M. Lindhout, M. Spanou, F. Ashrafzadeh +19 more
2020Genetics in Medicine32 citations Open access
Semantic Scholar
Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights
E. Tucker, Megan J. Baker, D. Hock, J. Warren +22 more
2022Journal of Clinical Endocrinology and Metabolism29 citations Open access
Semantic Scholar
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier
B. Bölsterli, E. Boltshauser, L. Palmieri, Johannes Spenger +28 more
2022Nutrients29 citations Open access
Semantic Scholar
Genetic landscape of pediatric acute liver failure of indeterminate origin
D. Lenz, L. D. Schlieben, Masaru Shimura, Alyssa Bianzano +91 more
2023Hepatology28 citations Open access
Semantic Scholar
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency
Willemijn J. van Rijt, Emmalie A. Jager, D. Allersma, A. Zeybek +20 more
2020Genetics in Medicine27 citations Open access
Semantic Scholar
Congenital disorders of glycosylation with defective fucosylation
Andreas Hüllen, Kristin N. Falkenstein, C. Weigel, H. Huidekoper +16 more
2021Journal of Inherited Metabolic Disease26 citations Open access
Semantic Scholar
Delineating MT-ATP6-associated disease
C. Stendel, C. Neuhofer, E. Floride, Yuqing Shi +19 more
2020Neurology: Genetics26 citations Open access
Semantic Scholar
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study
M. Krenn, Merve Sener, J. Rath, G. Zulehner +20 more
2022Journal of Neurology24 citations Open access
Semantic Scholar
Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease
O. Hikmat, P. Isohanni, Nandaki Keshavan, Matteo P. Ferla +23 more
2021Annals of Clinical and Translational Neurology24 citations Open access
Semantic Scholar
Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum
R. Kaiyrzhanov, S. Wortmann, Taryn R. Reid, M. Dehghani +14 more
2021Brain : a journal of neurology23 citations Open access
Semantic Scholar
Galactokinase deficiency: lessons from the GalNet registry
M. E. Rubio-Gozalbo, Britt Derks, A. Das, U. Meyer +20 more
2020Genetics in Medicine23 citations Open access
Semantic Scholar
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.
Federica Conte, E. Morava, N. A. Bakar, S. Wortmann +15 more
2020Molecular Genetics and Metabolism23 citations Open access
Semantic Scholar
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties
M. Cioclu, Ilaria Mosca, P. Ambrosino, Deborah Puzo +21 more
2023Annals of Neurology21 citations Open access
Semantic Scholar
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
S. Wortmann, B. Meunier, Lamia Mestek-Boukhibar, Florence van den Broek +11 more
2020American Journal of Human Genetics21 citations Open access
Semantic Scholar
CLPB (caseinolytic peptidase B homolog), the first mitochondrial protein refoldase associated with human disease.
D. Mróz, Hubert Wyszkowski, T. Szablewski, Katarzyna Zawieracz +5 more
2020Biochimica et Biophysica Acta - General Subjects21 citations Open access
Semantic Scholar
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
G. Vogel, Y. Mozer-Glassberg, Y. Landau, L. Schlieben +57 more
2022Genetics in Medicine20 citations Open access
Semantic Scholar
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
A. Guimier, M. T. Achleitner, Anne Moreau de Bellaing, M. Edwards +56 more
2021Genetics in Medicine20 citations Open access
Semantic Scholar
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia
Simone Schröder, Yun Li, Gökhan Yigit, J. Altmuller +16 more
2020Genetics in Medicine20 citations Open access
Semantic Scholar
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance
S. L. Stenton, Dorota Piekutowska-Abramczuk, Lea Kulterer, R. Kopajtich +9 more
2020Human Mutation19 citations Open access
Semantic Scholar
Patient‐reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire study
S. C. Grünert, A. Venema, Jamas LaFreniere, Blair Schneider +3 more
2023JIMD Reports18 citations Open access
Semantic Scholar
The role of clinical response to treatment in determining pathogenicity of genomic variants
Joseph J. Shen, S. Wortmann, L. de Boer, L. Kluijtmans +7 more
2020Genetics in Medicine18 citations Open access
Semantic Scholar
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency
F. del Caño-Ochoa, B. Ng, Antonio Rubio-Del-Campo, Sonal Mahajan +10 more
2023Journal of Inherited Metabolic Disease17 citations Open access
Semantic Scholar
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
A. T. van der Ven, J. Johannsen, F. Kortüm, M. Wagner +14 more
2021Clinical Genetics17 citations Open access
Semantic Scholar
Pathogenic variants in MRPL44 causes infantile cardiomyopathy due to a mitochondrial translation defect
Marisa W. Friederich, G. Geddes, S. Wortmann, A. Punnoose +6 more
2021Molecular Genetics and Metabolism17 citations Open access
Semantic Scholar
Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns
Tomaž Rozmarič, G. Mitulovič, V. Konstantopoulou, Bernadette Goeschl +8 more
2020Diagnostics16 citations Open access
Semantic Scholar
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission
J. Fasham, A. Huebner, L. Liebmann, R. Khalaf-Nazzal +26 more
2023Brain : a journal of neurology15 citations Open access
Semantic Scholar
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
Beryll Blickhäuser, S. L. Stenton, C. Neuhofer, Elisa Floride +20 more
2024Brain : a journal of neurology14 citations Open access
Semantic Scholar
Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine
S. Oswald, K. Steinbrücker, M. T. Achleitner, Elisabeth Göschl +8 more
2022Neuropediatrics14 citations
Semantic Scholar

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