| Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia EAR Nibbeling, A Duarri, CC Verschuuren-Bemelmans, MR Fokkens, ... Brain 140 (11), 2860-2878, 2017 | 118 | 2017 |
| SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway ST Cliffe, JM Kramer, K Hussain, JH Robben, EK de Jong, AP de Brouwer, ... Human molecular genetics 18 (12), 2257-2265, 2009 | 115 | 2009 |
| Mitochondrial hyperpolarization during chronic complex I inhibition is sustained by low activity of complex II, III, IV and V M Forkink, GR Manjeri, DC Liemburg-Apers, E Nibbeling, M Blanchard, ... Biochimica et Biophysica Acta (BBA)-Bioenergetics 1837 (8), 1247-1256, 2014 | 100 | 2014 |
| KAT6A Syndrome: Genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants J Kennedy, D Goudie, E Blair, K Chandler, S Joss, V McKay, A Green, ... Genetics in medicine 21 (4), 850-860, 2019 | 91 | 2019 |
| Ramsay hunt syndrome: Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation ME van Egmond, CC Verschuuren‐Bemelmans, EA Nibbeling, JWJ Elting, ... Movement Disorders 29 (1), 139-143, 2014 | 60 | 2014 |
| Using the shared genetics of dystonia and ataxia to unravel their pathogenesis EAR Nibbeling, CCS Delnooz, TJ de Koning, RJ Sinke, HA Jinnah, ... Neuroscience & Biobehavioral Reviews 75, 22-39, 2017 | 53 | 2017 |
| From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care MA de Koning, MC Haak, PNA van Scheltema, CM Peeters-Scholte, ... Genetics in Medicine 21 (10), 2303-2310, 2019 | 52 | 2019 |
| Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases A Duarri, EAR Nibbeling, MR Fokkens, M Meijer, M Boerrigter, ... PLoS One 10 (3), e0116599, 2015 | 38 | 2015 |
| Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4. 3 channel function and gating in a dominant manner A Duarri, MCA Lin, MR Fokkens, M Meijer, CJLM Smeets, EAR Nibbeling, ... Cellular and Molecular Life Sciences 72 (17), 3387-3399, 2015 | 33 | 2015 |
| The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together A Duarri, E Nibbeling, MR Fokkens, M Meijer, E Boddeke, E Lagrange, ... Neurogenetics 14, 257-258, 2013 | 22 | 2013 |
| Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia E Nibbeling, S Schaake, MA Tijssen, A Weissbach, JL Groen, ... Journal of neurology 262 (5), 1340-1343, 2015 | 21 | 2015 |
| Putting genome-wide sequencing in neonates into perspective PJ van der Sluijs, E Aten, DQCM Barge-Schaapveld, EK Bijlsma, ... Genetics in Medicine 21 (5), 1074-1082, 2019 | 20 | 2019 |
| Prenatal exome sequencing: A useful tool for the fetal neurologist MA de Koning, MJV Hoffer, EAR Nibbeling, EK Bijlsma, MJP Toirkens, ... Clinical Genetics 101 (1), 65-77, 2022 | 16 | 2022 |
| Rare functional missense variants in CACNA1H: What can we learn from Writer’s cramp? M Huang, EAR Nibbeling, TJ Lagrand, IA Souza, JL Groen, MA Gandini, ... Molecular Brain 14 (1), 1-4, 2021 | 6 | 2021 |
| Diagnostic value of a protocolized in-depth evaluation of pediatric bone marrow failure: a multi-center prospective cohort study K Atmar, CAL Ruivenkamp, L Hooimeijer, EAR Nibbeling, CL Eckhardt, ... Frontiers in Immunology 13, 883826, 2022 | 5 | 2022 |
| Erratum to: The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together A Duarri, E Nibbeling, MR Fokkens, M Meijer, E Boddeke, E Lagrange, ... neurogenetics 16, 243-243, 2015 | 4 | 2015 |
| Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals E Bosch, B Popp, E Güse, C Skinner, PJ van der Sluijs, I Maystadt, ... Genetics in Medicine 25 (11), 100950, 2023 | 3 | 2023 |
| Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces and intracerebral hemorrhage JW Rutten, MN Cerfontaine, KL Dijkstra, AA Mulder, J Vreijling, M Kruit, ... Genetics in Medicine, 101105, 2024 | 1 | 2024 |
| Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes MO Levitin, LE Rawlins, G Sanchez-Andrade, OA Arshad, SC Collins, ... Brain 146 (11), 4766-4783, 2023 | 1 | 2023 |
| Mouse and cellular models of KPTN-related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes MO Levitin, LE Rawlins, G Sanchez-Andrade, OA Arshad, SC Collins, ... bioRxiv, 2022.07. 15.500213, 2022 | 1 | 2022 |
Dineke VerbeekAssociate professor, University of GroningenVerifisert e-postadresse på umcg.nl
