Frank Baas
Emeritus hoogleraar Moleculair Genetische Diagnostiek
- Naam
- Prof.dr. F. Baas
- f.baas@lumc.nl
- ORCID iD
- 0000-0003-3912-5428
Frank Baas (25 februari, 1956) is hoogleraar Moleculair Genetische Diagnostiek en was hoofd van het laboratorium voor diagnostische genoom analyse (LDGA) van de afdeling Klinische Genetica (2017-2022). Hij is mede-oprichter van Regenesance BV en Complement Pharma BV, lid van de wetenschappelijke advies raad van de Amerikaanse Charcot-Marie-Tooth organisatie en ad hoc lid van beoordelings commissies van de Belgische FWO en adviseur bij Genomescan BV.
Frank Baas (25 februari, 1956) is hoogleraar Moleculair Genetische Diagnostiek en was hoofd van het laboratorium voor diagnostische genoom analyse (LDGA) van de afdeling Klinische Genetica (2017-2022). Hij is mede-oprichter van Regenesance BV en Complement Pharma BV, lid van de wetenschappelijke advies raad van de Amerikaanse Charcot-Marie-Tooth organisatie en ad hoc lid van beoordelings commissies van de Belgische FWO en adviseur bij Genomescan BV.
Genoom diagnostiek
Genoom diagnostiek is niet meer weg te denken uit onze samenleving. Genetische factoren spelen een belangrijke rol bij het ontstaan van, de gevoeligheid voor en progressie van ziekten. De genetische opmaak van een individu is belangrijk. De leerstoel Moleculair Genetische Diagnostiek richt zich op de relatie tussen genetische opmaak van een individu in de relatie tot ziekte. Tevens worden nieuwe analysetechnieken ontwikkeld en state-of-the art technologieën voor genetische diagnostiek in de breedste zin van het woord geïmplementeerd.
Wetenschappelijke carrière
Frank Baas studeerde geneeskunde aan de Universiteit van Amsterdam en promoveerde in 1986. De titel van zijn proefschrift luidt: The structure of the human thyroglobulin gene. Na een post-docbij het Massachusetts Institute of Technology en Harvard Medical School werkte hij op het Nederlands Kanker instituut waar hij een nieuw mechanisme van geneesmiddelen resistentie ontdekte. In 2002 werd hij hoogleraar Neurogenetica bij de Universiteit van Amsterdam, waar hij zich verder specialiseerde in de neurogenetica.
Hij heeft ruim 300 wetenschappelijke artikelen gepubliceerd en twee patenten op het gebied van neuroregeneratie zijn naam staan. Hij heeft de genetische basis van verschillende neurodegeneratieve aandoeningen ontdekt. Door middel van opheldering van de genetische basis van neurodegeneratieve ziekten verwacht hij meer inzicht te krijgen in de onderliggende ziekte mechanismen en dit kan dan leiden tot de ontwikkeling van betere therapieën.
Prijzen een eervolle benoemingen
Frank Baas heeft een Christiaan en Constantijn Huygens Fellowship van NWO gehad en kreeg de Amsterdam Inventor Award in 2009. Hij was voorzitter van de Nederlandse vereniging voor Humane Genetica van 2012-2016
Meer informatie:
https://www.narcis.nl/personpub/RecordID/PRS1287136/Language/en
Volg Frank Baas op:
Emeritus hoogleraar Moleculair Genetische Diagnostiek
- Faculteit Geneeskunde
Contact
- Achour, A.; Koopmann, T.; Knijnenburg, J.; Amir, R.; Harteveld, C. & Baas, F. (2023), The First report of sextuplicated alpha genes in a heterozygote beta thalassemia revealed by a severe beta thalassemia intermedia phenotype, European Journal of Human Genetics 31: 162-162.
- Seidel, F.; Kleemann, R.; Duyvenvoorde, W. van; Trigt, N. van; Keijzer, N.; Kooij, S. van der; Kooten, C. van; Verschuren, L.; Menke, A.; Kiliaan, A.J.; Winter, J.; Hughes, T.R.; Morgan, B.P.; Baas, F.; Fluiter, K. & Morrison, M.C. (2022), Therapeutic intervention with anti-complement component 5 antibody does not reduce NASH but does attenuate atherosclerosis and MIF concentrations in Ldlr-/-.Leiden mice, International Journal of Molecular Sciences 23(18).
- Hack, R.J.; Cerfontaine, M.N.; Gravesteijn, G.; Tap, S.; Hafkemeijer, A.; Grond, J. van der; Witjes-Ane, M.N.; Baas, F.; Rutten, J.W. & Oberstein, S.A.J.L. (2022), Effect of NOTCH3 EGFr group, sex, and cardiovascular risk factors on CADASIL clinical and neuroimaging outcomes, Stroke 53(10): 3133-3144.
- Brown, A.L.; Wilkins, O.G.; Keuss, M.J.; Hill, S.E.; Zanovello, M.; Lee, W.C.; Bampton, A.; Lee, F.C.Y.; Masino, L.; Qi, Y.A.; Bryce-Smith, S.; Gatt, A.; Hallegger, M.; Fagegaltier, D.; Phatnani, H.; Newcombe, J.; Gustavsson, E.K.; Seddighi, S.; Reyes, J.F.; Coon, S.L.; Ramos, D.; Schiavo, G.; Fisher, E.M.C.; Raj, T.; Secrier, M.; Lashley, T.; Ule, J.; Buratti, E.; Humphrey, J.; Ward, M.E.; Fratta, P. & NYGC ALS Consortium (2022), TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A, Nature 603(7899): 131-+.
- Susnjar, U.; Skrabar, N.; Brown, A.L.; Abbassi, Y.; Phatnani, H.; Cortese, A.; Cereda, C.; Bugiardini, E.; Cardani, R.; Meola, G.; Ripolone, M.; Moggio, M.; Romano, M.; Secrier, M.; Fratta, P.; Buratti, E. & NYGC ALS Consortium (2022), Cell environment shapes TDP-43 function with implications in neuronal and muscle disease, Communications Biology 5(1).
- Cappelli, S.; Spalloni, A.; Feiguin, F.; Visani, G.; Susnjar, U.; Brown, A.L.; Bardi, M. de; Borsellino, G.; Secrier, M.; Phatnani, H.; Romano, M.; Fratta, P.; Longone, P.; Buratti, E. & NYGC ALS Consortium (2022), NOS1AP is a novel molecular target and critical factor in TDP-43 pathology, Brain Communications 4(5).
- Johnson, J.O.; Chia, R.; Miller, D.E.; Li, R.; Kumaran, R.; Abramzon, Y.; Alahmady, N.; Renton, A.E.; Topp, S.D.; Gibbs, J.R.; Cookson, M.R.; Sabir, M.S.; Dalgard, C.L.; Troakes, C.; Jones, A.R.; Shatunov, A.; Iacoangeli, A.; Khleifat, A. al; Ticozzi, N.; Silani, V.; Gellera, C.; Blair, I.P.; Dobson-Stone, C.; Kwok, J.B.; Bonkowski, E.S.; Palvadeau, R.; Tienari, P.J.; Morrison, K.E.; Shaw, P.J.; Al-Chalabi, A.; Jr, R.H.B.; Calvo, A.; Mora, G.; Al-Saif, H.; Gotkine, M.; Leigh, F.; Chang, I.J.; Perlman, S.J.; Glass, I.; Scott, A.I.; Shaw, C.E.; Basak, A.N.; Landers, J.E.; Chio, A.; Crawford, T.O.; Smith, B.N.; Traynor, B.J.; FALS Sequencing Consortium; Amer Genome Ctr; Int ALS Genomics Consortium & ITALSGEN Consortium (2021), Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis, JAMA Neurology 78(10): 1236-1248.
- Erp, I.A.M. van; Essen, T.A. van; Fluiter, K.; Zwet, E. van; Vliet, P. van; Baas, F.; Haitsma, I.; Verbaan, D.; Coert, B.; Ruiter, G.C.W. de; Moojen, W.A.; Jagt, M. van der & Peul, W.C. (2021), Safety and efficacy of C1-inhibitor in traumatic brain injury (CIAO@TBI), Trials 22(1).
- Sekulovski, S.; Devant, P.; Panizza, S.; Gogakos, T.; Pitiriciu, A.; Heitmeier, K.; Ramsay, E.P.; Barth, M.; Schmidt, C.; Tuschl, T.; Baas, F.; Weitzer, S.; Martinez, J. & Trowitzsch, S. (2021), Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia, Nature Communications 12(1).
- Li, J.; Lim, R.G.; Kaye, J.A.; Dardov, V.; Coyne, A.N.; Wu, J.; Milani, P.; Cheng, A.; Thompson, T.G.; Ornelas, L.; Frank, A.; Adam, M.; Banuelos, M.G.; Casale, M.; Cox, V.; Escalante-Chong, R.; Daigle, J.G.; Gomez, E.; Hayes, L.; Holewenski, R.; Lei, S.S.; Lenail, A.; Lima, L.; Mandefro, B.; Matlock, A.; Panther, L.; Patel-Murray, N.L.; Pham, J.; Ramamoorthy, D.; Sachs, K.; Shelley, B.; Stocksdale, J.; Trost, H.; Wilhelm, M.; Venkatraman, V.; Wassie, B.T.; Wyman, S.; Yang, S.; Eyk, J.E. van; Lloyd, T.E.; Finkbeiner, S.; Fraenkel, E.; Rothstein, J.D.; Sareen, D.; Svendsen, C.N.; Thompson, L.M.; NeuroLINCS Consortium & NYGC ALS Consortium (2021), An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients, iScience 24(11).
- Achour, A.; Koopmann, T.T.; Baas, F. & Harteveld, C.L. (2021), The evolving role of next-generation sequencing in screening and diagnosis of hemoglobinopathies, Frontiers in Physiology 12.
- Berg, F.F. van den; Issa, Y.; Vreijling, J.P.; Lerch, M.M.; Weiss, F.U.; Besselink, M.G.; Baas, F.; Boermeester, M.A. & Santvoort, H.C. van (2021), Whole-exome sequencing identifies SLC52A1 and ZNF106 variants as novel genetic risk factors for (early) multiple-organ failure in acute pancreatitis, Annals of Surgery 275(6).
- Dewan, R.; Chia, R.; Ding, J.H.; Hickman, R.A.; Stein, T.D.; Abramzon, Y.; Ahmed, S.; Sabir, M.S.; Portley, M.K.; Tucci, A.; Ibanez, K.; Shankaracharya, F.N.U.; Keagle, P.; Rossi, G.; Caroppo, P.; Tagliavini, F.; Waldo, M.L.; Johansson, P.M.; Nilsson, C.F.; Rowe, J.B.; Benussi, L.; Binetti, G.; Ghidoni, R.; Jabbari, E.; Viollet, C.; Glass, J.D.; Singleton, A.B.; Silani, V.; Ross, O.A.; Ryten, M.; Torkamani, A.; Tanaka, T.; Ferrucci, L.; Resnick, S.M.; Pickering-Brown, S.; Brady, C.B.; Kowal, N.; Hardy, J.A.; Deerlin, V. van; Vonsattel, J.P.; Harms, M.B.; Morris, H.R.; Ferrari, R.; Landers, J.E.; Chio, A.; Gibbs, J.R.; Dalgard, C.L.; Scholz, S.W.; Traynor, B.J.; Amer Genome Ctr TAGC; FALS Sequencing Consortium; Genomics England Res Consortium; Int ALS FTD Genomics Consortium iA; Int FTD Genetics Consortium IFGC; Int LBD Genomics Consortium iLBDGC; NYGC ALS Consortium & PROSPECT Consortium (2021), Pathogenic huntingtin repeat expansion in patients with frontotemporal dementia and amyotrophic lateral sclerosis, Neuron 109(3).
- Saettini, F.; Poli, C.; Vengoechea, J.; Bonanomi, S.; Orellana, J.C.; Fazio, G.; Rodriguez, F.H.; Noguera, L.P.; Booth, C.; Jarur-Chamy, V.; Shams, M.; Iascone, M.; Vukic, M.; Gasperini, S.; Quadri, M.; Seijas, A.B.; Rivers, E.; Mauri, M.; Badolato, R.; Cazzaniga, G.; Bugarin, C.; Gaipa, G.; Kroes, W.G.M.; Moratto, D.; Ostaijen-ten Dam, M.M. van; Baas, F.; Maarel, S. van der; Piazza, R.; Coban-Akdemir, Z.H.; Lupski, J.R.; Yuan, B.; Chinn, I.K.; Daxinger, L. & Biondi, A. (2021), Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency, Blood 137(4): 493-499.
- Kuitwaard, K.; Doorn, P.A. van; Bengrine, T.; Rijs, W. van; Baas, F.; Nagelkerke, S.Q.; Kuijpers, T.W.; Fokkink, W.J.R.; Bunschoten, C.; Broers, M.C.; Willemsen, S.P.; Jacobs, B.C. & Huizinga, R. (2021), Genetic biomarkers for intravenous immunoglobulin response in chronic inflammatory demyelinating polyradiculoneuropathy, European Journal of Neurology 28(5).
- Heijer, J.M. den; Cullen, V.C.; Quadri, M.; Schmitz, A.; Hilt, D.C.; Lansbury, P.; Berendse, H.W.; Berg, W.D.J. van de; Bie, R.M.A. de; Boertien, J.M.; Boon, A.J.W.; Contarino, M.F.; Hilten, J.J. van; Hoff, J.I.; Mierlo, T. van; Munts, A.G.; Plas, A.A. van der; Ponsen, M.M.; Baas, F.; Majoor-Krakauer, D.; Bonifati, V.; Laar, T. van & Groeneveld, G.J. (2020), A large-scale full GBA1 gene screening in Parkinson's disease in the Netherlands., Movement Disorders 35(9): 1667-1674.
- Dijk, T. van; Barth, P.; Baas, F.; Reneman, L. & Poll-The, B.T. (2020), Postnatal brain growth patterns in pontocerebellar hypoplasia, Neuropediatrics 52(3).
- Kaat, L.D.; Wielen-jongen, J.C.F. van der; Kruit, M.C.; Bromberg, J.E.C.; Baas, F. & Oberstein, S.A.M.J.L. (2020), A case of co-occurrence of radiation-induced leukoencephalopathy and CADASIL, Neurology: Clinical Practice 10(3): E19-E21.
- Akker, E.B. van den; Makrodimitris, S.; Hulsman, M.; Brugman, M.H.; Nikolic, T.; Bradley, T.; Waisfisz, Q.; Baas, F.; Jakobs, M.E.; Jong, D. de; Slagboom, P.E.; Staal, F.J.T.; Reinders, M.J.T. & Holstege, H. (2020), Dynamic clonal hematopoiesis and functional T-cell immunity in a supercentenarian, Leukemia 35.
- Appelhof, B.; Wagner, M.; Hoefele, J.; Heinze, A.; Roser, T.; Koch-Hogrebe, M.; Roosendaal, S.D.; Dehghani, M.; Mehrjardi, M.Y.V.; Torti, E.; Houlden, H.; Maroofian, R.; Rajabi, F.; Sticht, H.; Baas, F.; Wieczorek, D. & Abou Jamra, R. (2020), Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1, European Journal of Human Genetics 29.
- Weterman, M.; Visser, M. de & Baas, F. (2020), Gene hunting for pathogenic variants causing axonal types of Charcot-Marie-Tooth disease, Journal of the Peripheral Nervous System 25(4): 573-574.
- Gravesteijn, G.; Dauwerse, J.G.; Overzier, M.; Brouwer, G.; Hegeman, I.; Mulder, A.A.; Baas, F.; Kruit, M.C.; Terwindt, G.M.; Duinen, S.G. van; Jost, C.R.; Aartsma-Rus, A.; Oberstein, S.A.J.L. & Rutten, J.W. (2020), Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients, Human Molecular Genetics 29(11): 1853-1863.
- Bouma, M.J.; Orlova, V.; Hil, F.E. van den; Mager, H.J.; Baas, F.; Knijff, P. de; Mummery, C.L.; Mikkers, H. & Freund, C. (2020), Generation and genetic repair of 2 iPSC clones from a patient bearing a heterozygous c.1120del18 mutation in the ACVRL1 gene leading to Hereditary Hemorrhagic Telangiectasia (HHT) type 2, Stem Cell Research 46.
- Tam, O.H.; Rozhkov, N.V.; Shaw, R.; Kim, D.; Hubbard, I.; Fennessey, S.; Propp, N.; Fagegaltier, D.; Harris, B.T.; Ostrow, L.W.; Phatnani, H.; Ravits, J.; Dubnau, J.; Hammell, M.G.; Phatnani, H.; Kwan, J.; Sareen, D.; Broach, J.R.; Simmons, Z.; Arcila-Londono, X.; Lee, E.B.; Deerlin, V.M. van; Shneider, N.A.; Fraenkel, E.; Ostrow, L.W.; Baas, F.; Zaitlen, N.; Berry, J.D.; Malaspina, A.; Fratta, P.; Cox, G.A.; Thompson, L.M.; Finkbeiner, S.; Dardiotis, E.; Miller, T.M.; Chandran, S.; Pal, S.; Hornstein, E.; MacGowan, D.J.; Heiman-Patterson, T.; Hammell, M.G.; Patsopoulos, N.A.; Butovsky, O.; Dubnau, J.; Nath, A.; Bowser, R.; Harms, M.; Aronica, E.; Poss, M.; Phillips-Cremins, J.; Crary, J.; Atassi, N.; Lange, D.J.; Adams, D.J.; Stefanis, L.; Gotkine, M.; Baloh, R.; Babu, S.; Raj, T.; Paganoni, S.; Shalem, O.; Smith, C.; Zhang, B. & NYGC ALS Consortium (2019), Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia, Cell Reports 29(5): 1164-+.
- Knijnenburg J, Kriek M, van Duyvenvoorde HA, Pappas N, Ariyurek Y, Buermans HPJ, Laurense-Bik MEY, Kuipers-Heijboer K & Baas F (2019), Precise breakpoint detection of balanced and unbalanced structural variation in whole genome sequencing data using haplotype blocks created by linked-reads, European Journal of Human Genetics 27: 538-539.
- Tao, F.F.; Beecham, G.W.; Rebelo, A.P.; Svaren, J.; Blanton, S.H.; Moran, J.J.; Lopez-Anido, C.; Morrow, J.M.; Abreu, L.; Rizzo, D.; Kirk, C.A.; Wu, X.Y.; Feely, S.; Verhamme, C.; Saporta, M.A.; Herrmann, D.N.; Day, J.W.; Sumner, C.J.; Lloyd, T.E.; Li, J.; Yum, S.W.; Taroni, F.; Baas, F.; Choi, B.O.; Pareyson, D.; Scherer, S.S.; Reilly, M.M.; Shy, M.E.; Zuchner, S.; Lewis, R.; Acsadi, G.; Finkel, R.; Fridman, V.; Ramchandren, S.; Walk, D.; Logigian, E.; Stanton, M.; Eichinger, K.; Guntrum, D.; Gibson, C.; Burns, J.; Moroni, I.; Pisciotta, C.; Laura, M.; Muntoni, F.; Sowden, J.E.; Mountain, J.; Bai, Y.H.; Bacon, C.; Gutmann, L.; Grider, T.; Phetteplace, J.; Seyedsadjadi, R.; Houlden, H.; Cortese, A.; Pandraud, A.; Calabrese, D.; Saveri, P.; Richardson, J.; Dankwa, L.; Lee, D.; Siskind, C.; Maciel, R.; Bis, D. & Inherited Neuropathy Consortium (2019), Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A, Annals of Neurology 85(3): 316-330.
- Pollastro, S.; Klarenbeek, P.L.; Doorenspleet, M.E.; Schaik, B.D.C. van; Esveldt, R.E.E.; Thurlings, R.M.; Boumans, M.J.H.; Gerlag, D.M.; Tak, P.P.; Vos, K.; Baas, F.; Kampen, A.H.C. van & Vries, N. (2019), Non-response to rituximab therapy in rheumatoid arthritis is associated with incomplete disruption of the B cell receptor repertoire, Annals of the Rheumatic Diseases 78(10): 1339-1345.
- Hageman, I.M.G.; Visser, H.; Veenstra, J.; Baas, F. & Siegert, C.E.H. (2019), Familial Mediterranean Fever (FMF): a single centre retrospective study in Amsterdam, Netherlands Journal of Medicine 77(5): 177-182.
- Dekker, M.C.J.; Sadiq, A.M.; Jusabani, M.A.; Mdavire, V.J.; Baas, F.; Morton, D.H. & Hannel, B.J. (2019), Ellis-van Creveld syndrome in a patient from Tanzania, American Journal of Medical Genetics Part A 179(10): 2034-2038.
- Stenvers, D.J.; Jongejan, A.; Atiqi, S.; Vreijling, J.P.; Limonard, E.J.; Endert, E.; Baas, F.; Moerland, P.D.; Fliers, E.; Kalsbeek, A. & Bisschop, P.H. (2019), Diurnal rhythms in the white adipose tissue transcriptome are disturbed in obese individuals with type 2 diabetes compared with lean control individuals, Diabetologia 62(4): 704-716.
- Majo, M. de; Topp, S.D.; Smith, B.N.; Nishimura, A.L.; Chen, H.J.; Gkazi, A.S.; Miller, J.; Wong, C.H.; Vance, C.; Baas, F.; Asbroek, A.L.M.A. ten; Kenna, K.P.; Ticozzi, N.; Redondo, A.G.; Esteban-Perez, J.; Tiloca, C.; Verde, F.; Duga, S.; Morrison, K.E.; Shaw, P.J.; Kirby, J.; Turner, M.R.; Talbot, K.; Hardiman, O.; Glass, J.D.; Belleroche, J. de; Gellera, C.; Ratti, A.; Al-Chalabi, A.; Brown, R.H.; Silani, V.; Landers, J.E. & Shaw, C.E. (2018), ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function, Neurobiology of Aging 71.
- Kloek, A.T.; Khan, H.N.; Seron, M.V.; Jongejan, A.; Zwinderman, A.H.; Baas, F.; Ende, A. van der; Beek, D. van de; Ferwerda, B. & Brouwer, M.C. (2018), Variation in coagulation and fibrinolysis genes evaluated for their contribution to cerebrovascular complications in adults with bacterial meningitis in the Netherlands, Journal of Infection 77(1): 54-59.
- Musters, A.; Klarenbeek, P.L.; Doorenspleet, M.E.; Balzaretti, G.; Esveldt, R.E.E.; Schaik, B.D.C. van; Jongejan, A.; Tas, S.W.; Kampen, A.H.C. van; Baas, F. & Vries, N. de (2018), In Rheumatoid Arthritis, Synovitis at Different Inflammatory Sites Is Dominated by Shared but Patient-Specific T Cell Clones, Journal of Immunology 201(2): 417-422.
- Conlon, E.G.; Fagegaltier, D.; Agius, P.; Davis-Porada, J.; Gregory, J.; Hubbard, I.; Kang, K.; Kim, D.; Phatnani, H.; Shneider, N.A.; Manley, J.L. & New York Genome Ctr ALS Consortium (2018), Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism, eLife 7.
- Dijk, T. van; Ferdinandusse, S.; Ruiter, J.P.N.; Alders, M.; Mathijssen, I.B.; Parboosingh, J.S.; Innes, A.M.; Meijers-Heijboer, H.; Poll-The, B.T.; Bernier, F.P.; Wanders, R.J.A.; Lamont, R.E. & Baas, F. (2018), Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis, European Journal of Human Genetics 26(12): 1752-1758.
- Lemmers, R.J.L.F.; Vliet, P.J. van der; Vreijling, J.P.; Henderson, D.; Stoep, N. van der; Voermans, N.; Engelen, B. van; Baas, F.; Sacconi, S.; Tawil, R. & Maarel, S.M. van der (2018), Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2, Human Molecular Genetics 27(20): 3488-3497.
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- Weterman, M.A.J.; Kuo, M.; Kenter, S.B.; Gordillo, S.; Karjosukarso, D.W.; Takase, R.; Bronk, M.; Oprescu, S.; Ruissen, F. van; Witteveen, R.J.W.; Bienfait, H.M.E.; Breuning, M.; Verhamme, C.; Hou, Y.M.; Visser, M. de; Antonellis, A. & Baas, F. (2018), Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities, Human Molecular Genetics 27(23): 4036-4050.
- Tripathy, R.; Leca, I.; Dijk, T. van; Weiss, J.; Bon, B.W. van; Sergaki, M.C.; Gstrein, T.; Breuss, M.; Tian, G.L.; Bahi-Buisson, N.; Paciorkowski, A.R.; Pagnamenta, A.T.; Wenninger-Weinzierl, A.; Martinez-Reza, M.F.; Landler, L.; Lise, S.; Taylor, J.C.; Terrone, G.; Vitiello, G.; Giudice, E. del; Brunetti-Pierri, N.; D'Amico, A.; Reymond, A.; Voisin, N.; Bernstein, J.A.; Farrelly, E.; Kini, U.; Leonard, T.A.; Valence, S.; Burglen, L.; Armstrong, L.; Hiatt, S.M.; Cooper, G.M.; Aldinger, K.A.; Dobyns, W.B.; Mirzaa, G.; Pierson, T.M.; Baas, F.; Chelly, J.; Cowan, N.J. & Keays, D.A. (2018), Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations, Neuron 100(6): 1354-+.
- Michailidou, I.; Jongejan, A.; Vreijling, J.P.; Georgakopoulou, T.; Wissel, M.B. de; Wolterman, R.A.; Ruizendaal, P.; Klar-Mohamad, N.; Grootemaat, A.E.; Picavet, D.I.; Kumar, V.; Kooten, C. van; Woodruff, T.M.; Morgan, B.P.; Wel, N.N. van der; Ramaglia, V.; Fluiter, K. & Baas, F. (2018), Systemic inhibition of the membrane attack complex impedes neuroinflammation in chronic relapsing experimental autoimmune encephalomyelitis, Acta Neuropathologica Communications 6.
- Dijk, T. van; Baas, F.; Barth, P.G. & Poll-The, B.T. (2018), What's new in pontocerebellar hypoplasia? An update on genes and subtypes, Orphanet Journal of Rare Diseases 13.
- Dijk, T. van; Vermeij, J.D.; Koningsbruggen, S. van; Lakeman, P.; Baas, F. & Poll-The, B.T. (2018), A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia, Journal of Inherited Metabolic Disease 41(5): 897-898.
- Mathijssen, I.B.; Florijn, R.J.; Born, L.I. van den; Zekveld-Vroon, R.C.; Brink, J.B. ten; Plomp, A.S.; Baas, F.; Meijers-Heijboer, H.; Bergen, A.A.B. & Schooneveld, M.J. van (2017), LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS A Severe Phenotype With Considerable Interindividual Variability, RETINA 37(1): 161-172.
- Dijk, T. van; Barth, P.; Reneman, L.; Appelhof, B.; Baas, F. & Poll-The, B.T. (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, American Journal of Medical Genetics Part A 173(1): 207-212.
- Dijk, T. van; Rudnik-Schoneborn, S.; Senderek, J.; Hajmousa, G.; Mei, H.L.; Dusl, M.; Aronica, E.; Barth, P. & Baas, F. (2017), Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family, Brain 140: E45-+.
- Groningen, T. van; Koster, J.; Valentijn, L.J.; Zwijnenburg, D.A.; Akogul, N.; Hasselt, N.E.; Broekmans, M.; Haneveld, F.; Nowakowska, N.E.; Bras, J.; Noesel, C.J.M. van; Jongejan, A.; Kampen, A.H. van; Koster, L.; Baas, F.; Dijk-Kerkhoven, L. van; Huizer-Smit, M.; Lecca, M.C.; Chan, A.; Lakeman, A.; Molenaar, P.; Volckmann, R.; Westerhout, E.M.; Hamdi, M.; Sluis, P.G. van; Ebus, M.E.; Molenaar, J.J.; Tytgat, G.A.; Westerman, B.A.; Nes, J. van & Versteeg, R. (2017), Neuroblastoma is composed of two super-enhancer-associated differentiation states, Nature Genetics 49(8): 1261-+.
- Marin-Valencia, I.; Gerondopoulos, A.; Zaki, M.S.; Ben-Omran, T.; Almureikhi, M.; Demir, E.; Guemez-Gamboa, A.; Gregor, A.; Issa, M.Y.; Appelhof, B.; Roosing, S.; Musaev, D.; Rosti, B.; Wirth, S.; Stanley, V.; Baas, F.; Barr, F.A. & Gleeson, J.G. (2017), Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia, American Journal of Human Genetics 101(3): 441-450.
- 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), Deregulated expression of EZH2 in congenital brainstem disconnection, Neuropathology and Applied Neurobiology 43(4): 358-365.
- Michailidou, I.; Naessens, D.M.P.; Hametner, S.; Guldenaar, W.; Kooi, E.J.; Geurts, J.J.G.; Baas, F.; Lassmann, H. & Ramaglia, V. (2017), Complement C3 on Microglial Clusters in Multiple Sclerosis Occur in Chronic but Not Acute Disease: Implication for Disease Pathogenesis, Glia 65(2): 264-277.
- Paassen, B.W. van; Bronk, M.; Verhamme, C.; Ruissen, F. van; Baas, F.; Spaendonck-Zwarts, K.Y. van & Visser, M. de (2017), Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations, Journal of the Peripheral Nervous System 22(4): 464-467.
- Lardelli, R.M.; Schaffer, A.E.; Eggens, V.R.C.; Zaki, M.S.; Grainger, S.; Sathe, S.; Nostrand, E.L. van; 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.; Shaw, T.L.; Markmiller, S.; Marin-Valencia, I.; Davies, J.H.; Meirleir, L. de; Kayserili, H.; Altunoglu, U.; Freckmann, M.L.; Warwick, L.; Chitayat, D.; Blaser, S.; Caglayan, 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.; Gabrie, 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), Biallelic mutations in the 3 ' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing, Nature Genetics 49(3): 457-464.
- Groen, J.L.; Andrade, A.; Ritz, K.; Jalalzadeh, H.; Haagmans, M.; Bradley, T.E.J.; Jongejan, A.; Verbeek, D.S.; Nurnberg, P.; Denome, S.; Hennekam, R.C.M.; Lipscombe, D.; Baas, F. & Tijssen, M.A.J. (2015), CACNA1B mutation is linked to unique myoclonus-dystonia syndrome, Human Molecular Genetics 24(4): 987-993.
- Groen, J.L.; Simon-Sanchez, J.; Ritz, K.; Bochdanovits, Z.; Fang, Y.; Hilten, J.J. van; Aramideh, M.; Warrenburg, B.P. van de; Boon, A.J.W.; Baas, F.; Heutink, P. & Tijssen, M.A.J. (2013), Cervical dystonia and genetic common variation in the dopamine pathway, Parkinsonism and Related Disorders 19(3): 346-349.
- Groen, J.L.; Ritz, K.; Tanck, M.W.; Warrenburg, B.P. van de; Hilten, J.J. van; Aramideh, M.; Baas, F. & Tijssen, M.A.J. (2013), Is TOR1A a risk factor in adult-onset primary torsion dystonia?, Movement Disorders 28(6): 827-831.
- Groen, J.L.; Kallen, M.C.; Warrenburg, B.P.C. van de; Speelman, J.D.; Hilten, J.J. van; Aramideh, M.; Boon, A.J.W.; Klein, C.; Koelman, J.H.T.M.; Langeveld, T.P.; Baas, F. & Tijssen, M.A.J. (2012), Phenotypes and genetic architecture of focal primary torsion dystonia, Journal of Neurology, Neurosurgery and Psychiatry 83(10): 1006-1011.
- Groen, J.L.; Ritz, K.; Velseboer, D.C.; Aramideh, M.; Hilten, J.J. van; Boon, A.J.W.; Warrenburg, B.P. van de; Baas, F. & Tijssen, M.A.J. (2012), Association of BDNF Met66Met polymorphism with arm tremor in cervical dystonia.
- Groen, J.L.; Yildirim, E.; Ritz, K.; Baas, F.; Hilten, J.J. van; Meulen, F.W. van der; Langeveld, T.P. & Tijssen, M.A.J. (2011), THAP1 Mutations Are Infrequent in Spasmodic Dysphonia.
- Vries, M. de; Deijs, M.; Canuti, M.; Schaik, B.D.C. van; Faria, N.R.; Garde, M.D.B. van de; Jachimowski, L.C.M.; Jebbink, M.F.; Jakobs, M.; Luyf, A.C.M.; Coenjaerts, F.E.J.; Claas, E.C.J.; Molenkamp, R.; Koekkoek, S.M.; Lammens, C.; Leus, F.; Goossens, H.; Ieven, M.; Baas, F. & Hoek, L. van der (2011), A Sensitive Assay for Virus Discovery in Respiratory Clinical Samples, PLoS ONE 6(1).
- Groen, J.L.; Ritz, K.; Contarino, M.F.; Warrenburg, B.P. van de; Aramideh, M.; Foncke, E.M.; Hilten, J.J. van; Schuurman, P.R.; Speelman, J.D.; Koelman, J.H.; Bie, R.M.A. de; Baas, F. & Tijssen, M.A. (2010), DYT6 Dystonia: Mutation Screening, Phenotype, and Response to Deep Brain Stimulation, Movement Disorders 25(14): 2420-2427.
- Ramaglia Valeria, Tannemaat Martijn Rudolf, de Kok Maryla, Wolterman Ruud, Vigar Miriam Ann, King Rosalind Helen Mary, Morgan Bryan Paul & Baas Frank (2009), Complement inhibition accelerates regeneration in a model of peripheral nerve injury, Molecular Immunology 47(2-3): 302-309.
- Ramaglia V, Daha MR & Baas F (2008), The complement system in the peripheral nerve: Friend or foe?, Molecular Immunology 45(15).
- Hulsebos TJM, Plomp AS, Wolterman RA, Robanus-Maandag EC, Baas F & Wesseling P (2007), Germline mutation of INI1/SMARCB1 in familial schwannomatosis, American Journal of Human Genetics 80(4).
- Kap YS, Hoozemans JJM, Bodewes AJ, Zwart R, Meijer OC, Baas F & Scheper W (2007), Pin1 levels are downregulated during ER stress in human neuroblastoma cells, neurogenetics 8(1).
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