Floor Duijkers

Research output

Research output per year 2016 2019 2021 2023 2024

• 18 Article
• 1 Meeting Abstract
• 1 Comment/Letter to the editor
• 1 Review article

Research output per year

Research output per year

Search results

• 2024

  Diagnosis and management in Rubinstein-Taybi syndrome: First international consensus statement

  Lacombe, D., Bloch-Zupan, A., Bredrup, C., Cooper, E. B., Houge, S. D., García-Miñaúr, S., Kayserili, H. L., Larizza, L., Lopez Gonzalez, V., Menke, L. A., Milani, D., Saettini, F., Stevens, C. A., Tooke, L., van der Zee, J. A., Genderen, M. M. V., van-Gils, J., Waite, J., Adrien, J-L., Bartsch, O., & 32 othersBitoun, P., Bouts, A. H. M., Cueto-González, A. M., Dominguez-Garrido, E., Duijkers, F. A., Fergelot, P., Halstead, E., Huisman, S. A., Meossi, C., Mullins, J., Nikkel, S. M., Oliver, C., Prada, E., Rei, A., Riddle, I., Rodriguez-Fonseca, C., Pena, R. R., Russell, J., Saba, A., Santos-Simarro, F., Simpson, B. N., Smith, D. F., Stevens, M. F., Szakszon, K., Taupiac, E., Totaro, N., Palafoll, I. V., van der Kaay, D. C. M., van Wijk, M. P., Vyshka, K., Wiley, S. & Hennekam, R. C., 12 Mar 2024, (E-pub ahead of print) In: Journal of medical genetics. jmg-2023-109438.

  Research output: Contribution to journal › Review article › Academic › peer-review

• No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation

  Bakhuizen, J. J., Postema, F. A. M., van Rijn, R. R., van Schuppen, J., Duijkers, F. A. M., van Noesel, C. J. M., Hennekam, R. C., Jongmans, M. C. J., Savci-Heijink, C. D., Smetsers, S. E., Terheggen-Lagro, S. W. J., Hopman, S. M. J., Oomen, M. W. N. & Merks, J. H. M., 1 Mar 2024, In: Journal of Pediatric Surgery. 59, 3, p. 459-463 5 p.

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

  Open Access
• 2023

  A large family with MSH3-related polyposis

  Aelvoet, A. S., Hoekman, D. R., Redeker, B. J. W., Weegenaar, J., Dekker, E., van Noesel, C. J. M. & Duijkers, F. A. M., Jan 2023, In: Familial Cancer. 22, 1, p. 49-54 6 p.

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

  Open Access
  5 Citations (Scopus)

• Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome

  PTEN Study Group, 10 Jan 2023, In: Journal of the National Cancer Institute. 115, 1, p. 93-103 11 p.

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

  Open Access
  9 Citations (Scopus)

• Diagnostic yield of a risk model versus faecal immunochemical test only: a randomised controlled trial in a colorectal cancer screening programme

  Kortlever, T. L., van der Vlugt, M., Duijkers, F. A. M., Masclee, A., Kraaijenhagen, R., Spaander, M. C. W., Lansdorp-Vogelaar, I., Bossuyt, P. M. & Dekker, E., 21 Sept 2023, In: British journal of cancer. 129, 5, p. 791-796 6 p.

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

• Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers

  van der Werf-'t Lam, A-S., Terlouw, D., Tops, C. M., van Kan, M. S., van Hest, L. P., Gille, H. J. P., Duijkers, F. A. M., Wagner, A., Eikenboom, E. L., Letteboer, T. G. W., de Jong, M. M., Bajwa-Ten Broeke, S. W., Bleeker, F. E., Gomez Garcia, E. B., de Wind, N., van Wezel, J. T., Morreau, H., Suerink, M. & Nielsen, M., 1 Sept 2023, In: Modern Pathology. 36, 9, p. 100240 1 p., 100240.

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

  Open Access

• Molecular Profile of MSH6-Associated Colorectal Carcinomas Shows Distinct Features From Other Lynch Syndrome–Associated Colorectal Carcinomas

  MSH6 TUMOR GROUP, Jul 2023, In: Gastroenterology. 165, 1, p. 271-274.e2

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

  Open Access
  6 Citations (Scopus)

• No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation

  Bakhuizen, J. J., Postema, F. A. M., van Rijn, R. R., van Schuppen, J., Duijkers, F. A. M., van Noesel, C. J. M., Hennekam, R. C., Jongmans, M. C. J., Savci-Heijink, C. D., Smetsers, S. E., Terheggen-Lagro, S. W. J., Hopman, S. M. J., Oomen, M. W. N. & Merks, J. H. M., 21 Oct 2023, (E-pub ahead of print) In: Journal of Pediatric Surgery.

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

  Open Access
• 2022

  Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

  The European Hereditary Tumour Group (EHTG) and the International Mismatch Repair Consortium (IMRC), 1 Dec 2022, In: Hereditary Cancer in Clinical Practice. 20, 1, 36.

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

  Open Access
  19 Citations (Scopus)

• Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

  PTEN Study Group, 1 Dec 2022, In: European journal of medical genetics. 65, 12, p. 104632 104632.

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

  Open Access
  6 Citations (Scopus)
• 2021

  A randomized experimental study to test the effects of discussing uncertainty during cancer genetic counseling: different strategies, different outcomes?

  Medendorp, N. M., Hillen, M. A., Visser, L. N. C., Aalfs, C. M., Duijkers, F. A. M., van Engelen, K., Ausems, M. G. E. M., Verhoef, S., Stiggelbout, A. M. & Smets, E. M. A., May 2021, In: European journal of human genetics. 29, 5, p. 789-799 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  7 Citations (Scopus)

• Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy

  Bonora, E., Chakrabarty, S., Kellaris, G., Tsutsumi, M., Bianco, F., Bergamini, C., Ullah, F., Isidori, F., Liparulo, I., Diquigiovanni, C., Masin, L., Rizzardi, N., Cratere, M. G., Boschetti, E., Papa, V., Maresca, A., Cenacchi, G., Casadio, R., Martelli, P., Matera, I., & 47 othersCeccherini, I., Fato, R., Raiola, G., Arrigo, S., Signa, S., Sementa, A. R., Severino, M., Striano, P., Fiorillo, C., Goto, T., Uchino, S., Oyazato, Y., Nakamura, H., Mishra, S. K., Yeh, Y-S., Kato, T., Nozu, K., Tanboon, J., Morioka, I., Nishino, I., Toda, T., Goto, Y-I., Ohtake, A., Kosaki, K., Yamaguchi, Y., Nonaka, I., Iijima, K., Mimaki, M., Kurahashi, H., Raams, A., Macinnes, A., Alders, M., Engelen, M., Linthorst, G., de Koning, T., den Dunnen, W., Dijkstra, G., van Spaendonck, K., van Gent, D. C., Aronica, E. M., Picco, P., Carelli, V., Seri, M., Katsanis, N., Duijkers, F. A. M., Taniguchi-Ikeda, M. & de Giorgio, R., 1 May 2021, In: Brain. 144, 5, p. 1451-1466 16 p.

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

  Open Access
  27 Citations (Scopus)

• Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands

  Reumers, S. F. I., Erasmus, C. E., Bouman, K., Pennings, M., Schouten, M., Kusters, B., Duijkers, F. A. M., van der Kooi, A., Jaeger, B., Verschuuren-Bemelmans, C. C., Faber, C. G., van Engelen, B. G., Kamsteeg, E. J., Jungbluth, H. & Voermans, N. C., Dec 2021, In: Clinical genetics. 100, 6, p. 692-702 11 p.

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

  Open Access
  6 Citations (Scopus)

• Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq

  Koster, R., Brandão, R. D., Tserpelis, D., van Roozendaal, C. E. P., van Oosterhoud, C. N., Claes, K. B. M., Paulussen, A. D. C., Sinnema, M., Vreeburg, M., van der Schoot, V., Stumpel, C. T. R. M., Broen, M. P. G., Spruijt, L., Jongmans, M. C. J., Lesnik Oberstein, S. A. J., Plomp, A. S., Misra-Isrie, M., Duijkers, F. A., Louwers, M. J., Szklarczyk, R., & 5 othersDerks, K. W. J., Brunner, H. G., van den Wijngaard, A., van Geel, M. & Blok, M. J., 15 Nov 2021, In: NPJ GENOMIC MEDICINE. 6, 1, p. 95 10 p., 95.

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

  Open Access
  9 Citations (Scopus)
• 2020

  De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

  Lehalle, D., Vabres, P., Sorlin, A., Bierhals, T., Avila, M., Carmignac, V., Chevarin, M., Torti, E., Abe, Y., Bartolomaeus, T., Clayton-Smith, J., Cogné, B., Cusco, I., Duplomb, L., De Bont, E., Duffourd, Y., Duijkers, F., Elpeleg, O., Fattal, A., Geneviève, D., & 31 othersGuillen Sacoto, M. J., Guimier, A., Harris, D. J., Hempel, M., Isidor, B., Jouan, T., Kuentz, P., Koshimizu, E., Lichtenbelt, K., Loik Ramey, V., Maik, M., Miyakate, S., Murakami, Y., Pasquier, L., Pedro, H., Simone, L., Sondergaard-Schatz, K., St-Onge, J., Thevenon, J., Valenzuela, I., Abou Jamra, R., Van Gassen, K., Van Haelst, M. M., Van Koningsbruggen, S., Verdura, E., Whelan Habela, C., Zacher, P., Rivière, J. B., Thauvin-Robinet, C., Betschinger, J. & Faivre, L., 1 Dec 2020, In: Journal of medical genetics. 57, 12, p. 808-819 12 p., 106508.

  Research output: Contribution to journal › Article › Academic › peer-review
  11 Citations (Scopus)

• KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

  Pennings, M., Schouten, M. I., van Gaalen, J., Meijer, R. P. P., de Bot, S. T., Kriek, M., Saris, C. G. J., van den Berg, L. H., van Es, M. A., Zuidgeest, D. M. H., Elting, M. W., van de Kamp, J. M., van Spaendonck-Zwarts, K. Y., Die-Smulders, C. D., Brilstra, E. H., Verschuuren, C. C., de Vries, B. B. A., Bruijn, J., Sofou, K., Duijkers, F. A., & 4 othersJaeger, B., Schieving, J. H., van de Warrenburg, B. P. & Kamsteeg, E. J., 1 Jan 2020, In: European journal of human genetics. 28, 1, p. 40-49 10 p., 31488895.

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

  Open Access
  49 Citations (Scopus)
• 2019

  De novo missense mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

  Lehalle, D., Vabres, P., Bierhals, T., Cho, M. T., Cogne, B., Avila, M., Carmignac, V., Duplomb-Jego, L., De Bont, E., Duffourd, Y., Duijkers, F., Elpeleg, O., Fattal-Valevski, A., Genevieve, D., Guimier, A., Harris, D., Hempel, M., Isidor, B., Jouan, T., Kuentz, P., & 14 othersLichtenbelt, K., Ramey, V. L., Pasquier, L., St-Onge, J., Sorlin, A., Thevenon, J., Torti, E., Van Gassen, K., Van Haelst, M., van Koningsbruggen, S., Riviere, J., Thauvin, C., Betschinger, J. & Faivre, L., Oct 2019, In: European journal of human genetics. 27, p. 1094-1094

  Research output: Contribution to journal › Meeting Abstract › Academic

• HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans

  Duijkers, F. A., McDonald, A., Janssens, G. E., Lezzerini, M., Jongejan, A., van Koningsbruggen, S., Leeuwenburgh-Pronk, W. G., Wlodarski, M. W., Moutton, S., Tran-Mau-Them, F., Thauvin-Robinet, C., Faivre, L., Monaghan, K. G., Smol, T., Boute-Benejean, O., Ladda, R. L., Sell, S. L., Bruel, A-L., Houtkooper, R. H. & MacInnes, A. W., 6 Jun 2019, In: American journal of human genetics. 104, 6, p. 1040-1059 20 p.

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

  Open Access
  26 Citations (Scopus)

• Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3

  Villegas, F., Lehalle, D., Mayer, D., Rittirsch, M., Stadler, M. B., Zinner, M., Olivieri, D., Vabres, P., Duplomb-Jego, L., De Bont, E. S. J. M., Duffourd, Y., Duijkers, F., Avila, M., Geneviève, D., Houcinat, N., Jouan, T., Kuentz, P., Lichtenbelt, K. D., Thauvin-Robinet, C., St-Onge, J., & 9 othersThevenon, J., van Gassen, K. L. I., van Haelst, M., van Koningsbruggen, S., Hess, D., Smallwood, S. A., Rivière, J-B., Faivre, L. & Betschinger, J., 7 Feb 2019, In: Cell Stem Cell. 24, 2, p. 257-270.e8

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

  Open Access
  80 Citations (Scopus)
• 2018

  De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

  Palmer, E. E., Stuhlmann, T., Weinert, S., Haan, E., van Esch, H., Holvoet, M., Boyle, J., Leffler, M., Raynaud, M., Moraine, C., van Bokhoven, H., Kleefstra, T., Kahrizi, K., Najmabadi, H., Ropers, H-H., Delgado, M. R., Sirsi, D., Golla, S., Sommer, A., Pietryga, M. P., & 29 othersChung, W. K., Wynn, J., Rohena, L., Bernardo, E., Hamlin, D., Faux, B. M., Grange, D. K., Manwaring, L., Tolmie, J., Joss, S., Cobben, J. M., Duijkers, F. A. M., Goehringer, J. M., Challman, T. D., Hennig, F., Fischer, U., Grimme, A., Suckow, V., Musante, L., Nicholl, J., Shaw, M., Lodh, S. P., Niu, Z., Rosenfeld, J. A., Stankiewicz, P., Jentsch, T. J., Gecz, J., Field, M. & Kalscheuer, V. M., 2018, In: Molecular psychiatry. 23, 2, p. 222-230

  Research output: Contribution to journal › Article › Academic › peer-review
  45 Citations (Scopus)
• 2016

  Dilation of the Aorta Ascendens Forms Part of the Clinical Spectrum of HCN4 Mutations

  Vermeer, A. M. C., Lodder, E. M., Thomas, D., Duijkers, F. A. M., Marcelis, C., van Gorselen, E. O. F., Fortner, P., Buss, S. J., Mereles, D., Katus, H. A., Wilde, A. A. M., Bezzina, C. R., Boekholdt, S. M., Schweizer, P. A. & Christiaans, I., 2016, In: Journal of the American College of Cardiology. 67, 19, p. 2313-2315

  Research output: Contribution to journal › Comment/Letter to the editor › Academic
  21 Citations (Scopus)