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N. V. van Os · SciRah

Researcher profile · Semantic Scholar

N. V. van Os

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N. V. van Os — researcher profile on SciRah

h-index: 12
Works: 28
Citations: 675

Most-cited papers

Health risks for ataxia‐telangiectasia mutated heterozygotes: a systematic review, meta‐analysis and evidence‐based guideline
N. V. van Os, N. Roeleveld, C. Weemaes, M. Jongmans +4 more
2016Clinical Genetics177 citations
Semantic Scholar
Ataxia‐telangiectasia: recommendations for multidisciplinary treatment
N. V. van Os, Charlotte A. Haaxma, M. van der Flier, P. Merkus +5 more
2017Developmental Medicine & Child Neurology85 citations Open access
Semantic Scholar
Ataxia-telangiectasia: Immunodeficiency and survival.
N. V. van Os, A. Jansen, M. van Deuren, Á. Haraldsson +13 more
2017Clinical Immunology82 citations Open access
Semantic Scholar
Genotype, extrapyramidal features, and severity of variant ataxia‐telangiectasia
K. Schon, N. V. van Os, N. Oscroft, H. Baxendale +14 more
2018Annals of Neurology80 citations Open access
Semantic Scholar
Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia Telangiectasia
S. Veenhuis, N. V. van Os, A. Janssen, M. van Gerven +9 more
2021Movement Disorders39 citations Open access
Semantic Scholar
Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations
N. V. van Os, L. Chessa, C. Weemaes, M. van Deuren +10 more
2019Journal of Medical Genetics37 citations Open access
Semantic Scholar
Classic ataxia-telangiectasia: the phenotype of long-term survivors
N. V. van Os, M. van Deuren, C. Weemaes, J. van Gaalen +4 more
2019Journal of Neurology26 citations Open access
Semantic Scholar
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
B. Yaldiz, Erdi Kucuk, J. Hampstead, T. Hofste +296 more
2023Human Genomics24 citations Open access
Semantic Scholar
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Joohyun Park, A. Tucci, V. Cipriani, G. Demidov +45 more
2022Genetics in Medicine23 citations Open access
Semantic Scholar
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes
G. Demidov, S. Laurie, A. Torella, G. Piluso +38 more
2023European Journal of Human Genetics21 citations Open access
Semantic Scholar
Causative mechanisms and clinical impact of immunoglobulin deficiencies in Ataxia Telangiectasia.
S. Takada, T. J. Weitering, N. V. van Os, Li-Kun Du +8 more
2024Journal of Allergy and Clinical Immunology16 citations Open access
Semantic Scholar
Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia
N. V. van Os, A. Hensiek, J. van Gaalen, A. M. Taylor +4 more
2018Neurology12 citations
Semantic Scholar
Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms.
M. Schoenaker, N. V. van Os, M. van der Flier, M. van Deuren +4 more
2017European Journal of Medical Genetics12 citations
Semantic Scholar
Neurofilament light chain: A novel blood biomarker in patients with ataxia telangiectasia.
S. Veenhuis, A. S. Gupta, C. M. D. de Gusmão, J. Thornton +8 more
2021European journal of paediatric neurology11 citations Open access
Semantic Scholar
Dysarthria in children and adults with ataxia telangiectasia
S. Veenhuis, N. V. van Os, M. van Gerven, L. van Haaften +3 more
2021Developmental Medicine & Child Neurology10 citations Open access
Semantic Scholar
Biomarkers in Ataxia-Telangiectasia: a Systematic Review
M. Tiet, B.-I. Guțu, P. Springall-Jeggo, D. Coman +11 more
2025Journal of Neurology8 citations Open access
Semantic Scholar
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia
Benita Menden, R. D. Incebacak Eltemur, G. Demidov, Marc Sturm +137 more
2026Nature Communications3 citations Open access
Semantic Scholar
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Joohyun Park, A. Tucci, V. Cipriani, G. Demidov +47 more
2023Genetics in Medicine3 citations Open access
Semantic Scholar
Serum alpha fetoprotein in Ataxia Telangiectasia: New lessons about an old biomarker.
S. J. G. Veenhuis, N. V. van Os, A. E. H. Swinkels, C. Weemaes +2 more
2026European journal of paediatric neurology2 citations Open access
Semantic Scholar
Preferences for genetic interventions for SCA and Huntington’s disease: results of a discrete choice experiment among patients
N. V. van Os, M. Oosterloo, J. P. C. Grutters, B. Essers +1 more
2024Orphanet Journal of Rare Diseases2 citations Open access
Semantic Scholar
Genetic Interventions for Spinocerebellar Ataxia and Huntington’s Disease: A Qualitative Study of the Patient Perspective
N. V. van Os, M. Oosterloo, B. Essers, J. P. C. Grutters +1 more
2024Journal of Huntington's Disease1 citations Open access
Semantic Scholar
Quality of life in ataxia-telangiectasia.
N. V. van Os
2022European journal of paediatric neurology1 citations
Semantic Scholar
Diagnosis and Management of Ataxia-Telangiectasia in Resource-Limited Settings
N. V. van Os, K. V. van Aerde, J. van Gaalen, P. Merkus +6 more
2020Journal of International Child Neurology Association1 citations Open access
Semantic Scholar
Plasma Copper and Zinc Levels in Ataxia–Telangiectasia
A. E. H. Swinkels, S. Veenhuis, N. V. van Os, C. Weemaes +2 more
2026International Journal of Molecular Sciences0 citations Open access
Semantic Scholar
The ATTeST trial in ataxia telangiectasia: some concerns.
M. Willemsen, N. V. van Os, N. Roeleveld, C. Weemaes
2025Lancet Neurology0 citations Open access
Semantic Scholar
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint
R. Schüle, D. Timmann, C. Erasmus, Jennifer Reichbauer +233 more
2021European Journal of Human Genetics0 citations Open access
Semantic Scholar
Domino congres brengt waterpartijen bij elkaar rond informatiemanagement
R. Peters, N. V. van Os, G. Spaling, R. A. F. Willems
20150 citations
Semantic Scholar
risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline
N. V. van Os, N. Roeleveld, C. Weemaes, M. Jongmans +4 more
0 citations
Semantic Scholar

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