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Sabine Weller Grønborg

Observed names: Gronborg, Sabine, Grønborg S, Grønborg, Sabine, Grønborg, Sabine W., S Gronborg, S Grønborg, S Weller, S. Gronborg, S. Weller, Sabine Groenborg, Sabine Gronborg, Sabine Grønborg, Sabine W Grønborg, Sabine W. Gronborg, Sabine W. Grønborg, Sabine Weller, Weller, Sabine
Observed institutions: University of Copenhagen, Howard Hughes Medical Institute, University Hospital Centre Zagreb, Johns Hopkins University, University of Antwerp, University of Southern Denmark, Johns Hopkins Medicine, Maastricht University Medical Centre, Copenhagen University Hospital, Rigshospitalet, Universitätsmedizin Göttingen, Kempenhaeghe, Filadelfia, ERN EpiCARE, MetabERN, Institute Born-Bunge, Heinrich Heine University Düsseldorf, University of Göttingen
ORCID: 0000-0002-2113-9023
Observed ORCID: 0000-0002-2113-9023
OpenAlex ID: A5014156127
Extending the KCNQ2 encephalopathy spectrum
2013 · Sarah Weckhuysen, Vanja Ivanovic, et al. · Neurology · 220
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Peroxisome Biogenesis Disorders
2003 · Sabine Weller, Stephen J. Gould, et al. · Annual Review of Genomics and Human Genetics · 203
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in theL1CAMgene
2001 · Sabine Weller, Jutta Gärtner · Human Mutation · 200
Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications
2021 · Katrine M Johannesen, Yuanyuan Liu, et al. · Brain · 145
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Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome
2015 · Saskia M. Maas, Adam C. Shaw, et al. · European Journal of Medical Genetics · 123
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ 2 gain‐of‐function variants R201C and R201H
2017 · Sarah B. Mulkey, Bruria Ben‐Zeev, et al. · Epilepsia · 108
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Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care
2018 · Ivan Ivanovski, Olivera Djuric, et al. · Genetics in Medicine · 104
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Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment
2021 · Eugen Mengel, Marc C. Patterson, et al. · Journal of Inherited Metabolic Disease · 102
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Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG
2020 · Peter Witters, Shawn Tahata, et al. · Genetics in Medicine · 82
Organelle interplay in peroxisomal disorders
2009 · Sven Thoms, Sabine Grønborg, et al. · Trends in Molecular Medicine · 74
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
2019 · Brett V. Johnson, Raman Kumar, et al. · Biological Psychiatry · 68
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Alternative Splicing Suggests Extended Function of PEX26 in Peroxisome Biogenesis
2005 · Sabine Weller, Ivelisse Cajigas, et al. · The American Journal of Human Genetics · 62
Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients
2008 · S. Weller, H. Rosewich, et al. · Journal of Inherited Metabolic Disease · 59
Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients
2016 · Livia Garavelli, Ivan Ivanovski, et al. · Genetics in Medicine · 58
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PURA- Related Developmental and Epileptic Encephalopathy
2021 · Katrine M. Johannesen, Elena Gardella, et al. · Neurology Genetics · 53
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Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency
2014 · Monique Van Scherpenzeel, Sharita Timal, et al. · Brain · 53
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Glycosylated vs non-glycosylated granulocyte colony-stimulating factor (G-CSF) – results of a prospective randomised monocentre study
2001 · H Bönig, S Silbermann, et al. · Bone Marrow Transplantation · 52
Detection of Paroxysms in Long-Term, Single-Channel EEG-Monitoring of Patients with Typical Absence Seizures
2017 · Troels W. Kjaer, Helge B. D. Sorensen, et al. · IEEE Journal of Translational Engineering in Health and Medicine · 45
Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management
2024 · Lucia Laugwitz, Daphne H. Schoenmakers, et al. · European Journal of Paediatric Neurology · 34
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Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)
2022 · Daphne H. Schoenmakers, Shanice Beerepoot, et al. · Orphanet Journal of Rare Diseases · 34
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Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy
2022 · Laura A. Tseng, Jose E. Abdenur, et al. · Molecular Genetics and Metabolism · 27
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Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study
2020 · Eugen Mengel, Bruno Bembi, et al. · Orphanet Journal of Rare Diseases · 27
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Mortality and causes of death in children referred to a tertiary epilepsy center
2013 · Sabine Grønborg, Peter Uldall · European Journal of Paediatric Neurology · 27
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease
2023 · Sumudu S C Amarasekera, Daniella H Hock, et al. · Human Molecular Genetics · 25
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Newborn screening for adrenoleukodystrophy: International experiences and challenges
2023 · Cecilie Videbæk, Lars Melgaard, et al. · Molecular Genetics and Metabolism · 24
Works count: 87
Citation count: 2,295
H-index: 24
I10-index: 38
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