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E. Kamsteeg · SciRah

Researcher profile · Semantic Scholar

E. Kamsteeg

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E. Kamsteeg — researcher profile on SciRah

h-index: 57
Works: 241
Citations: 11K

Most-cited papers

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects
Eunju Seong, Ryan Insolera, M. Dulović, E. Kamsteeg +15 more
2018Annals of Neurology152 citations Open access
Semantic Scholar
Congenital titinopathy: comprehensive characterisation and pathogenic insights
E. Oates, Kristi Jones, S. Donkervoort, A. Charlton +80 more
2018Annals of Neurology123 citations Open access
Semantic Scholar
Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
D. Steel, M. Zech, Chen Zhao, K. Barwick +49 more
2020Annals of Neurology99 citations Open access
Semantic Scholar
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights
D. Johnstone, Hilal H. Al-Shekaili, M. Tarailo-Graovac, N. Wolf +49 more
2019Brain : a journal of neurology83 citations Open access
Semantic Scholar
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
M. Pennings, M. Schouten, J. van Gaalen, R. Meijer +20 more
2019European Journal of Human Genetics74 citations Open access
Semantic Scholar
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications
G. Schobers, J. Schieving, H. Yntema, M. Pennings +14 more
2022Genome Medicine73 citations Open access
Semantic Scholar
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases
Elena Perenthaler, A. Nikoncuk, S. Yousefi, W. Berdowski +65 more
2019bioRxiv65 citations Open access
Semantic Scholar
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
S. Laurie, W. Steyaert, Elke de Boer, K. Polavarapu +105 more
2025Nature Medicine60 citations Open access
Semantic Scholar
Clinical exome sequencing—Mistakes and caveats
J. Corominas, S. Smeekens, M. Nelen, H. Yntema +3 more
2022Human Mutation59 citations Open access
Semantic Scholar
Making sense of missense variants in TTN-related congenital myopathies
Martin Rees, R. Nikoopour, A. Fukuzawa, A. L. Kho +41 more
2021Acta Neuropathologica58 citations Open access
Semantic Scholar
De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity
Xia Li, S. Poschmann, Qiu-Yun Chen, W. Fazeli +6 more
2018European Journal of Human Genetics54 citations Open access
Semantic Scholar
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
D. Westra, M. Schouten, Bas C. Stunnenberg, B. Küsters +29 more
2019Journal of Neuromuscular Diseases47 citations Open access
Semantic Scholar
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
M. Wiessner, R. Maroofian, Meng-Yuan Ni, A. Pedroni +102 more
2021Brain : a journal of neurology45 citations Open access
Semantic Scholar
Failure of ketogenic diet therapy in GLUT1 deficiency syndrome.
Y. Bekker, D. Lambrechts, J. Verhoeven, Jessy van Boxtel +4 more
2019European journal of paediatric neurology41 citations
Semantic Scholar
Genome sequencing as a generic diagnostic strategy for rare disease
G. Schobers, R. Derks, A. den Ouden, Hilde L. Swinkels +26 more
2023Genome Medicine40 citations Open access
Semantic Scholar
Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.
S. Batzios, Galit Tal, Andrew Distasio, Yan-Yan Peng +11 more
2022Human Molecular Genetics39 citations Open access
Semantic Scholar
Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield
B. van der Sanden, J. Corominas, Michelle de Groot, M. Pennings +8 more
2020Genetics in Medicine39 citations Open access
Semantic Scholar
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
S. Galosi, B. Edani, S. Martinelli, H. Hansíková +46 more
2021Brain : a journal of neurology37 citations Open access
Semantic Scholar
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients
J. P. Molenaar, J. Verhoeven, R. Rodenburg, E. Kamsteeg +27 more
2020Brain : a journal of neurology36 citations Open access
Semantic Scholar
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness
A. Slavotinek, D. Misceo, S. Htun, Linda Mathisen +19 more
2020bioRxiv35 citations Open access
Semantic Scholar
The complexities of CACNA1A in clinical neurogenetics
Marina P. Hommersom, T. V. van Prooije, M. Pennings, M. Schouten +3 more
2021Journal of Neurology33 citations
Semantic Scholar
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations
G. J. Knuiman, B. Küsters, L. Eshuis, M. Snoeck +16 more
2019Journal of Neurology33 citations Open access
Semantic Scholar
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
R. V. van Jaarsveld, Jack Reilly, M. Cornips, M. A. Hadders +55 more
2022Genetics in Medicine30 citations Open access
Semantic Scholar
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
Muhammad Ansar, Hyung-Lok Chung, Ali Al-Otaibi, Mohammad Nael Elagabani +20 more
2019American Journal of Human Genetics30 citations Open access
Semantic Scholar
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies
M. Pennings, R. Meijer, M. Gerrits, Jannie W. H. Janssen +8 more
2023European Journal of Human Genetics27 citations Open access
Semantic Scholar
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
K. Helbig, Robert J. Lauerer, J. C. Bahr, Ivana A. Souza +129 more
2019American Journal of Human Genetics27 citations Open access
Semantic Scholar
Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium.
M. van de Locht, S. Donkervoort, J. D. de Winter, S. Conijn +21 more
2021Journal of Clinical Investigation26 citations Open access
Semantic Scholar
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome
S. Donkervoort, P. Mohassel, L. Laugwitz, M. Zaki +25 more
2020American Journal of Medical Genetics. Part A26 citations Open access
Semantic Scholar
CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.
Aakash Shetty, Z. Gan-or, S. Ashtiani, J. Ruskey +5 more
2019European Journal of Medical Genetics26 citations
Semantic Scholar
The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.
A. Traschütz, J. van Gaalen, M. Oosterloo, M. Vreeburg +8 more
2019Parkinsonism & Related Disorders26 citations
Semantic Scholar
De novo SPAST mutations may cause a complex SPG4 phenotype.
J. Schieving, S. D. de Bot, L. A. van de Pol, N. Wolf +9 more
2019Brain : a journal of neurology25 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
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples
R. Wijngaard, G. Demidov, L. O'Gorman, Jordi Corominas-Galbany +25 more
2023European Journal of Human Genetics23 citations Open access
Semantic Scholar
Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia
F. Ghorbani, J. D. de Boer-Bergsma, C. Verschuuren-Bemelmans, M. Pennings +10 more
2022Journal of Neurology23 citations Open access
Semantic Scholar
Genetic characterization of primary lateral sclerosis
E. D. de Boer, Bálint S. de Vries, M. Pennings, E. Kamsteeg +3 more
2023Journal of Neurology22 citations Open access
Semantic Scholar
Anaesthesia and neuromuscular disorders: what a neurologist needs to know
L. R. van den Bersselaar, M. Snoeck, M. Gubbels, S. Riazi +3 more
2020Practical Neurology22 citations Open access
Semantic Scholar
Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study.
E. van Ruitenbeek, J. Custers, C. Verhaak, M. Snoeck +8 more
2019Neuromuscular Disorders22 citations Open access
Semantic Scholar
Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis
L. R. van den Bersselaar, H. Jungbluth, N. Kruijt, E. Kamsteeg +10 more
2022Brain Communications21 citations Open access
Semantic Scholar
Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study
K. Bouman, J. Groothuis, J. Doorduin, N. van Alfen +18 more
2021BMC Neurology21 citations Open access
Semantic Scholar
LAMA2-Related Muscular Dystrophy Across the Life Span
K. Bouman, J. Groothuis, J. Doorduin, N. van Alfen +10 more
2023Neurology: Genetics20 citations Open access
Semantic Scholar
DTYMK is essential for genome integrity and neuronal survival
J. Vanoevelen, J. Bierau, Janine A. C. Grashorn, E. Lambrichs +16 more
2021Acta Neuropathologica18 citations Open access
Semantic Scholar
Clinical presentation and long‐term follow‐up of dopamine beta hydroxylase deficiency
Tessa Wassenberg, J. Deinum, F. V. van Ittersum, E. Kamsteeg +10 more
2020Journal of Inherited Metabolic Disease17 citations Open access
Semantic Scholar
Genotype-phenotype correlations of KIF5A stalk domain variants
E. D. de Boer, W. van Rheenen, H. S. Goedee, E. Kamsteeg +4 more
2021Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration16 citations Open access
Semantic Scholar
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders
Lauren O'Grady, S. S. Schrier Vergano, Trevor L. Hoffman, Dean P. Sarco +30 more
2022American Journal of Medical Genetics. Part A15 citations
Semantic Scholar
Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers
S. Reumers, F. Braun, J. Spillane, J. Böhm +10 more
2021Neurology15 citations Open access
Semantic Scholar
Referral Indications for Malignant Hyperthermia Susceptibility Diagnostics in Patients without Adverse Anesthetic Events in the Era of Next-generation Sequencing
L. R. van den Bersselaar, A. Hellblom, Mejdan Gashi, E. Kamsteeg +6 more
2022Anesthesiology14 citations Open access
Semantic Scholar
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands
S. Reumers, C. Erasmus, K. Bouman, M. Pennings +11 more
2021Clinical Genetics14 citations Open access
Semantic Scholar
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy.
Walinka van Tol, M. van Scherpenzeel, M. Alsady, Moniek Riemersma +12 more
2019Clinical Chemistry14 citations Open access
Semantic Scholar
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in drosophila.
Hyung-Lok Chung, P. Rump, Di Lu, Megan R. Glassford +13 more
2022Human Molecular Genetics13 citations Open access
Semantic Scholar
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
Iris G. M. Wijnen, H. Veenstra-Knol, F. Vansenne, E. Gerkes +10 more
2020European Journal of Human Genetics13 citations Open access
Semantic Scholar

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