Genome Analysis (AMC)

Research output

Research output per year 2000 2002 2007 2008 2009 2010 2011 2012 2013 2014 2015 2017 2019

• 305 Article*
• 20 Thesis, fully internal
• 16 Review article*
• 12 Comment/Letter to the editor*
• 12 More
  • 5 Chapter*
  • 4 Editorial*
  • 2 Thesis, fully external
  • 1 Letter*

Research output per year

Research output per year

Search results

• 2019

  Complement in multiple sclerosis

  Michailidou, I., 2019, 215 p.

  Research output: Doctoral thesis › Thesis, fully internal

  Open Access
• 2018

  Identification and characterization of candidate cancer genes in osteosarcoma

  Both, J., 2018, 152 p.

  Research output: Doctoral thesis › Thesis, fully internal

  Open Access

• Pontocerebellar hypoplasia: Genes and phenotypes

  van Dijk, T., 2018, 151 p.

  Research output: Doctoral thesis › Thesis, fully internal

  Open Access

• TUB gene expression in hypothalamus and adipose tissue and its association with obesity in humans

  Nies, V. J. M., Struik, D., Wolfs, M. G. M., Rensen, S. S., Szalowska, E., Unmehopa, U. A., Fluiter, K., van der Meer, T. P., Hajmousa, G., Buurman, W. A., Greve, J. W., Rezaee, F., Shiri-Sverdlov, R., Vonk, R. J., Swaab, D. F., Wolffenbuttel, B. H. R., Jonker, J. W. & van Vliet-Ostaptchouk, J. V., 2018, In: International journal of obesity (2005). 42, p. 376-383

  Research output: Contribution to Journal › Article › Academic › peer-review
• 2017

  A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's

  van Dijk, T., Barth, P., Reneman, L., Appelhof, B., Baas, F. & Poll-The, B. T., 2017, In: American Journal of Medical Genetics. Part A. 173A, 1, p. 207-212

  Research output: Contribution to Journal › Article › Academic › peer-review

• A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

  Chatzispyrou, I. A., Alders, M., Guerrero-Castillo, S., Zapata Perez, R., Haagmans, M. A., Mouchiroud, L., Koster, J., Ofman, R., Baas, F., Waterham, H. R., Spelbrink, J. N., Auwerx, J., Mannens, M. M., Houtkooper, R. H. & Plomp, A. S., 2017, In: Human Molecular Genetics. 26, 13, p. 2541-2550

  Research output: Contribution to Journal › Article › Academic › peer-review

• A quest for the best retinal pigment epithelium (stem) cell replacement therapy

  Bennis, A., 2017, 137 p.

  Research output: Doctoral thesis › Thesis, fully internal

  Open Access

• Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

  Lardelli, R. M., Schaffer, A. E., Eggens, V. R. C., Zaki, M. S., Grainger, S., Sathe, S., van Nostrand, E. L., Schlachetzki, Z., Rosti, B., Akizu, N., Scott, E., Silhavy, J. L., Heckman, L. D., Rosti, R. O., Dikoglu, E., Gregor, A., Guemez-Gamboa, A., Musaev, D., Mande, R., Widjaja, A. & 39 others, Shaw, T. L., Markmiller, S., Marin-Valencia, I., Davies, J. H., de Meirleir, L., Kayserili, H., Altunoglu, U., Freckmann, M. L., Warwick, L., Chitayat, D., Blaser, S., Çağlayan, A. O., Bilguvar, K., Per, H., Fagerberg, C., Christesen, H. T., Kibaek, M., Aldinger, K. A., Manchester, D., Matsumoto, N., Muramatsu, K., Saitsu, H., Shiina, M., Ogata, K., Foulds, N., Dobyns, W. B., Chi, N. C., Traver, D., Spaccini, L., Bova, S. M., Gabriel, S. B., Gunel, M., Valente, E. M., Nassogne, M-C., Bennett, E. J., Yeo, G. W., Baas, F., Lykke-Andersen, J. & Gleeson, J. G., 2017, In: Nature Genetics. 49, 3, p. 457-464

  Research output: Contribution to Journal › Article › Academic › peer-review

• Complement C3 on microglial clusters in multiple sclerosis occur in chronic but not acute disease: Implication for disease pathogenesis

  Michailidou, I., Naessens, D. M. P., Hametner, S., Guldenaar, W., Kooi, E. J., Geurts, J. J. G., Baas, F., Lassmann, H. & Ramaglia, V., 1 Feb 2017, In: GLIA. 65, 2, p. 264-277 14 p.

  Research output: Contribution to Journal › Article › Academic › peer-review

• Complement in neuroinflammation: Studies in leprosy and Amyotrophic Lateral Sclerosis

  Bahia El Idrissi, N., 2017, 275 p.

  Research output: Doctoral thesis › Thesis, fully internal

  Open Access

• Deregulated expression of EZH2 in congenital brainstem disconnection

  Barth, P. G., Aronica, E., Fox, S., Fluiter, K., Weterman, M. A. J., Poretti, A., Miller, D. C., Boltshauser, E., Harding, B., Santi, M. & Baas, F., 2017, In: Neuropathology and applied neurobiology. 43, 4, p. 358-365

  Research output: Contribution to Journal › Editorial › Academic › peer-review

• Dominant B cell receptor clones in peripheral blood predict onset of arthritis in individuals at risk for rheumatoid arthritis

  Tak, P. P., Doorenspleet, M. E., de Hair, M. J. H., Klarenbeek, P. L., van Beers-Tas, M. H., van Kampen, A. H. C., van Schaardenburg, D., Gerlag, D. M., Baas, F. & de Vries, N., 2017, In: Annals of the rheumatic diseases. 76, 11, p. 1924-1930

  Research output: Contribution to Journal › Article › Academic › peer-review

• Inhibition of miR-142-5P ameliorates disease in mouse models of experimental colitis

  Duijvis, N. W., Moerland, P. D., Kunne, C., Slaman, M. M. W., van Dooren, F. H., Vogels, E. W., de Jonge, W. J., Meijer, S. L., Fluiter, K. & te Velde, A. A., 2017, In: PLoS ONE. 12, 10, p. e0185097

  Research output: Contribution to Journal › Article › Academic › peer-review

• In Situ complement activation and T-cell immunity in leprosy spectrum: An immunohistological study on leprosy lesional skin

  Bahia El Idrissi, N., Iyer, A. M., Ramaglia, V., Rosa, P. S., Soares, C. T., Baas, F. & Das, P. K., 2017, In: PLoS ONE. 12, 5, p. e0177815

  Research output: Contribution to Journal › Article › Academic › peer-review

• Long-term follow-up of patients with retinitis pigmentosa type 12 caused by CRB1 mutations: A severe phenotype with considerable interindividual variability

  Mathijssen, I. B., Florijn, R. J., Van Den Born, L. I., Zekveld-Vroon, R. C., Ten Brink, J. B., Plomp, A. S., Baas, F., Meijers-Heijboer, H., Bergen, A. A. B. & Van Schooneveld, M. J., 2017, In: Retina. 37, 1, p. 161-172 12 p.

  Research output: Contribution to Journal › Article › Academic › peer-review

• LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P

  Hakonen, J. E., Sorrentino, V., Avagliano Trezza, R., de Wissel, M. B., van den Berg, M., Bleijlevens, B., van Ruissen, F., Distel, B., Baas, F., Zelcer, N. & Weterman, M. A. J., 2017, In: Human Molecular Genetics. 26, 11, p. 2034-2041

  Research output: Contribution to Journal › Article › Academic › peer-review

• Mannose-binding lectin-associated serine protease 2 (MASP-2) contributes to poor disease outcome in humans and mice with pneumococcal meningitis

  Kasanmoentalib, E. S., Valls Seron, M., Ferwerda, B., Tanck, M. W., Zwinderman, A. H., Baas, F., van der Ende, A., Brouwer, M. C. & van de Beek, D., 2017, In: Journal of neuroinflammation. 14, 1, p. 2

  Research output: Contribution to Journal › Article › Academic › peer-review

• Mannose-binding lectin-associated serine protease 2 (MASP-2) contributes to poor disease outcome in humans and mice with pneumococcal meningitis (vol 14, pg 9, 2017)

  Kasanmoentalib, E. S., Valls Seron, M., Ferwerda, B., Tanck, M. W., Zwinderman, A. H., Baas, F., van der Ende, A., Schwaeble, W. J., Brouwer, M. C. & van de Beek, D., 2017, In: Journal of neuroinflammation. 14, 1, p. 77

  Research output: Contribution to Journal › Comment / Letter to the editor › Academic

• Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

  Smith, B. N., Topp, S. D., Fallini, C., Shibata, H., Chen, H-J., Troakes, C., King, A., Ticozzi, N., Kenna, K. P., Soragia-Gkazi, A., Miller, J. W., Sato, A., Dias, D. M., Jeon, M., Vance, C., Wong, C. H., de Majo, M., Kattuah, W., Mitchell, J. C., Scotter, E. L. & 36 others, Parkin, N. W., Sapp, P. C., Nolan, M., Nestor, P. J., Simpson, M., Weale, M., Lek, M., Baas, F., Vianney de Jong, J. M., ten Asbroek, A. L. M. A., Redondo, A. G., Esteban-Pérez, J., Tiloca, C., Verde, F., Duga, S., Leigh, N., Pall, H., Morrison, K. E., Al-Chalabi, A., Shaw, P. J., Kirby, J., Turner, M. R., Talbot, K., Hardiman, O., Glass, J. D., de Belleroche, J., Maki, M., Moss, S. E., Miller, C., Gellera, C., Ratti, A., Al-Sarraj, S., Brown, R. H., Silani, V., Landers, J. E. & Shaw, C. E., 2017, In: Science Translational Medicine. 9, 388, p. eaad9157

  Research output: Contribution to Journal › Article › Academic › peer-review

• Neural response to alcohol taste cues in youth: effects of the OPRM1 gene

  Korucuoglu, O., Gladwin, T. E., Baas, F., Mocking, R. J. T., Ruhé, H. G., Groot, P. F. C. & Wiers, R. W., Nov 2017, In: Addiction Biology. 22, 6, p. 1562–1575

  Research output: Contribution to journal › Article* › Academic › peer-review

  Open Access

• Neuroblastoma is composed of two super-enhancer-associated differentiation states

  Van Groningen, T., Koster, J., Valentijn, L. J., Zwijnenburg, D. A., Akogul, N., Hasselt, N. E., Broekmans, M., Haneveld, F., Nowakowska, N. E., Bras, J., Van Noesel, C. J. M., Jongejan, A., Van Kampen, A. H., Koster, L., Baas, F., Van Dijk-Kerkhoven, L., Huizer-Smit, M., Lecca, M. C., Chan, A., Lakeman, A. & 11 others, Molenaar, P., Volckmann, R., Westerhout, E. M., Hamdi, M., Van Sluis, P. G., Ebus, M. E., Molenaar, J. J., Tytgat, G. A., Westerman, B. A., Van Nes, J. & Versteeg, R., 1 Aug 2017, In: Nature Genetics. 49, 8, p. 1261-1266 6 p.

  Research output: Contribution to journal › Article* › Academic › peer-review

• Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family

  van Dijk, T., Rudnik-Schöneborn, S., Senderek, J., Hajmousa, G., Mei, H., Dusl, M., Aronica, E., Barth, P. & Baas, F., 2017, In: Brain. 140, 8, p. E45-+

  Research output: Contribution to Journal › Comment / Letter to the editor › Academic

• Prevalence of Age-Related Macular Degeneration in Europe

  AUTHOR GROUP, 2017, In: Ophthalmology. 124, 12, p. 1753-1763

  Research output: Contribution to journal › Article* › Academic › peer-review

• Profoundly Expanded T-cell Clones in the Inflamed and Uninflamed Intestine of Patients With Crohn's Disease

  Doorenspleet, M. E., Westera, L., Peters, C. P., Hakvoort, T. B. M., Esveldt, R. E., Vogels, E., van Kampen, A. H. C., Baas, F., Buskens, C., Bemelman, W. A., D'Haens, G., Ponsioen, C. Y., te Velde, A. A., de Vries, N. N. & van den Brink, G. R., 2017, In: Journal of Crohn s & colitis. 11, 7, p. 831-839

  Research output: Contribution to Journal › Article › Academic › peer-review

• Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations

  van Paassen, B. W., Bronk, M., Verhamme, C., van Ruissen, F., Baas, F., van Spaendonck-Zwarts, K. Y. & de Visser, M., 2017, In: Journal of the peripheral nervous system. 22, 4, p. 464-467

  Research output: Contribution to Journal › Article › Academic › peer-review

• RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

  van Dijk, T., van Ruissen, F., Jaeger, B., Rodenburg, R. J., Tamminga, S., van Maarle, M., Baas, F., Wolf, N. I. & Poll-The, B. T., 2017, In: JIMD REPORTS. 33, p. 87-92

  Research output: Contribution to journal › Article* › Academic › peer-review

• Standing out of the crowd: Adaptive immune cells in the pathogenesis and prediction of rheumatoid arthritis and IgG4-related disease

  Doorenspleet, M. E., 2017, 194 p.

  Research output: Doctoral thesis › Thesis, fully internal

  Open Access

• Tau phosphorylation as adaptive response to metabolic dysfunction in the brain

  van der Harg, J. M., 2017, 153 p.

  Research output: Doctoral thesis › Thesis, fully external

  Open Access
• 2016

  Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

  Flex, E., Niceta, M., Cecchetti, S., Thiffault, I., Au, M. G., Capuano, A., Piermarini, E., Ivanova, A. A., Francis, J. W., Chillemi, G., Chandramouli, B., Carpentieri, G., Haaxma, C. A., Ciolfi, A., Pizzi, S., Douglas, G. V., Levine, K., Sferra, A., Dentici, M. L., Pfundt, R. R. & 11 others, Le Pichon, J-B., Farrow, E., Baas, F., Piemonte, F., Dallapiccola, B., Graham, J. M., Saunders, C. J., Bertini, E., Kahn, R. A., Koolen, D. A. & Tartaglia, M., 2016, In: American journal of human genetics. 99, 4, p. 962-973

  Research output: Contribution to Journal › Article › Academic › peer-review

• Loss of MAPK Pathway Activation in Post-Mitotic Retinal Cells as Mechanism in MEK Inhibition-Related Retinopathy in Cancer Patients

  van Dijk, E. H. C., Duits, D. E. M., Versluis, M., Luyten, G. P. M., Bergen, A. A. B., Kapiteijn, E. W., de Lange, M. J., Boon, C. J. F. & van der Velden, P. A., 2016, In: Medicine. 95, 18, p. e3457

  Research output: Contribution to Journal › Article › Academic › peer-review

• Oncogenic Properties of Candidate Oncogenes in Chromosome Region 17p11.2p12 in Human Osteosarcoma

  Both, J., Wu, T., ten Asbroek, A. L. M. A., Baas, F. & Hulsebos, T. J. M., 2016, In: Cytogenetic and genome research. 150, 1, p. 52-59

  Research output: Contribution to Journal › Article › Academic › peer-review

• On the origin of pontocerebellar hypoplasia: Finding genes for a rare disease

  Eggens, V. R. C., 2016, 151 p.

  Research output: Doctoral thesis › Thesis, fully internal

  Open Access

• Polymorphism of SLC6A2 gene does not influence outcome of myocardial (123)I-mIBG scintigraphy in patients with chronic heart failure

  Verschure, D. O., Baas, F., van Eck-Smit, B. L. F., Somsen, G. A. & Verberne, H. J., 2016, (E-pub ahead of print) In: Journal of nuclear cardiology. 25, 3, p. 900-906

  Research output: Contribution to Journal › Article › Academic › peer-review

  Open Access

• Prevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C9ORF72 hexanucleotide repeat expansion: a systematic neuropathological review

  Schipper, L. J., Raaphorst, J., Aronica, E., Baas, F., de Haan, R., de Visser, M. & Troost, D., 2016, In: Neuropathology and applied neurobiology. 42, 6, p. 547-560

  Research output: Contribution to Journal › Article › Academic › peer-review

• Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells

  Hulsebos, T. J. M., Kenter, S., Baas, F., Nannenberg, E. A., Bleeker, F. E., van Minkelen, R., van den Ouweland, A. M. W., Wesseling, P. & Flucke, U., Apr 2016, In: Genes, chromosomes & cancer. 55, 4, p. 350-354

  Research output: Contribution to Journal › Article › Academic › peer-review

• Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa

  Pierrache, L. H. M., Hartel, B. P., van Wijk, E., Meester-Smoor, M. A., Cremers, F. P. M., de Baere, E., de Zaeytijd, J., van Schooneveld, M. J., Cremers, C. W. R. J., Dagnelie, G., Hoyng, C. B., Bergen, A. A., Leroy, B. P., Pennings, R. J. E., van den Born, L. I. & Klaver, C. C. W., 2016, In: Ophthalmology. 123, 5, p. 1151-1160

  Research output: Contribution to Journal › Article › Academic › peer-review
• 2015

  A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations

  Beeldman, E., van der Kooi, A. J., de Visser, M., van Maarle, M. C., van Ruissen, F. & Baas, F., 2015, In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 16, 5-6, p. 410-411

  Research output: Contribution to Journal › Article › Academic › peer-review

• BRI2 ectodomain affects Aβ42 fibrillation and tau truncation in human neuroblastoma cells.

  Del Campo Milan, M., Oliveira, C. R., Scheper, W., Zwart, R., Korth, C., Muller-Schiffmann, A., Kostallas, G., Biverstal, H., Presto, J., Johansson, J., Hoozemans, J. J., Pereira, C. F., Teunissen, C. E. & del Campo, M., 2015, In: Cellular and Molecular Life Sciences. 72, 8, p. 1599-1611

  Research output: Contribution to Journal › Article › Academic › peer-review

• CACNA1B mutation is linked to unique myoclonus-dystonia syndrome

  Groen, J. L., Andrade, A., Ritz, K., Jalalzadeh, H., Haagmans, M., Bradley, T. E. J., Jongejan, A., Verbeek, D. S., Nürnberg, P., Denome, S., Hennekam, R. C. M., Lipscombe, D., Baas, F. & Tijssen, M. A. J., 2015, In: Human Molecular Genetics. 24, 4, p. 987-993

  Research output: Contribution to Journal › Article › Academic › peer-review

• Change the neural code, change the message

  Kamermans, M., 2015, In: Nature neuroscience. 18, 1, p. 4-6

  Research output: Contribution to Journal › Editorial › Academic › peer-review

• Clonal evolution of CD8+ T cell responses against latent viruses: relationship among phenotype, localization, and function

  Remmerswaal, E. B. M., Klarenbeek, P. L., Alves, N. L., Doorenspleet, M. E., van Schaik, B. D. C., Esveldt, R. E. E., Idu, M. M., van Leeuwen, E. M. M., van der Bom-Baylon, N., van Kampen, A. H. C., Koch, S. D., Pircher, H., Bemelman, F. J., Baas, F., ten Berge, I. J. M., van Lier, R. A. W. & de Vries, N., 2015, In: Journal of virology. 89, 1, p. 568-580

  Research output: Contribution to Journal › Article › Academic › peer-review

• Complement C1q-C3-associated synaptic changes in multiple sclerosis hippocampus

  Michailidou, I., Willems, J. G. P., Kooi, E-J., van Eden, C., Gold, S. M., Geurts, J. J. G., Baas, F., Huitinga, I. & Ramaglia, V., 2015, In: Annals of neurology. 77, 6, p. 1007-1026

  Research output: Contribution to Journal › Article › Academic › peer-review

• Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

  AUTHOR GROUP, 2015, In: Science. 347, 6229, p. 1436-1441

  Research output: Contribution to journal › Article* › Academic › peer-review

• Expanding the mutational spectrum of LZTR1 in schwannomatosis

  Paganini, I., Chang, V. Y., Capone, G. L., Vitte, J., Benelli, M., Barbetti, L., Sestini, R., Trevisson, E., Hulsebos, T. J., Giovannini, M., Nelson, S. F. & Papi, L., 2015, In: European journal of human genetics. 23, 7, p. 963-968

  Research output: Contribution to Journal › Article › Academic › peer-review

• Feedback-induced glutamate spillover enhances negative feedback from horizontal cells to cones

  Vroman, R. & Kamermans, M., 2015, In: Journal of physiology. 593, 13, p. 2927-2940

  Research output: Contribution to Journal › Article › Academic › peer-review

• Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.

  Tan-Sindhunata, M. B., Matthijssen, I. B., Smit, M., Baas, F., de Vries, J. I. P., van der Voorn, J. P., Kluijt, I., Hagen, M. A., Blom, E. W., Sistermans, E. A., Heijboer-Meijers, J. E., Waisfisz, Q., Weiss, M. M., Groffen, A. J. A. & Mathijssen, I. B., 14 Sep 2015, In: European journal of human genetics. 23, 9, p. 1151-1157 7 p.

  Research output: Contribution to Journal › Article › Academic › peer-review

  Open Access

• M. leprae components induce nerve damage by complement activation: identification of lipoarabinomannan as the dominant complement activator

  Bahia El Idrissi, N., Das, P. K., Fluiter, K., Rosa, P. S., Vreijling, J., Troost, D., Morgan, B. P., Baas, F. & Ramaglia, V., 2015, In: Acta Neuropathologica. 129, 5, p. 653-667

  Research output: Contribution to Journal › Article › Academic › peer-review

• Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle

  Dubey, M., Bugiani, M., Ridder, M. C., Postma, N. L., Brouwers, E., Polder, E., Jacobs, J. G., Baaijen, J. C., Klooster, J., Kamermans, M., Aardse, R., de Kock, C. P. J., Dekker, M. P., van Weering, J. R. T., Heine, V. M., Abbink, T. E. M., Scheper, G. C., Boor, P. K. I., Lodder, J. C., Mansvelder, H. D. & 2 others, Knaap, M. & Baayen, J. C., 2015, In: Annals of neurology. 77, 11, p. 114-131

  Research output: Contribution to Journal › Article › Academic › peer-review

• Molecular classification of amyotrophic lateral sclerosis by unsupervised clustering of gene expression in motor cortex

  Aronica, E., Baas, F., Iyer, A., ten Asbroek, A. L. M. A., Morello, G. & Cavallaro, S., 2015, In: Neurobiology of Disease. 74, p. 359-376

  Research output: Contribution to journal › Article* › Academic › peer-review

  Open Access

• Neuroinflammation is not a Prerequisite for Diabetes-induced Tau Phosphorylation

  van der Harg, J. M., Eggels, L., Ruigrok, S. R., Hoozemans, J. J. M., la Fleur, S. E. & Scheper, W., Nov 2015, In: Frontiers in neuroscience. 9, p. 432 432.

  Research output: Contribution to Journal › Article › Academic › peer-review

  Open Access