Mieke van Haelst

Research output

Research output per year 1999 2019 2020 2021 2022 2023 2024

• 134 Article
• 10 Meeting Abstract
• 7 Comment/Letter to the editor
• 7 Review article
• 4 More
  • 2 Erratum/Corrigendum
  • 2 Letter

Research output per year

Research output per year

Search results

• 2024

  Mirror Hand Movements Caused by a Deletion of the DCC Gene

  Kleinendorst, L. & van Haelst, M. M., 12 Feb 2024, In: JAMA Neurology. 81, 2, p. 187 1 p.

  Research output: Contribution to journal › Comment/Letter to the editor › Academic
• 2023

  Correspondence on “Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population” by Savatt et al

  van Riel, L., Jansen, P. R., Boerrigter, B. G., van Moorselaar, R. J. A., van Haelst, M. M., Wolthuis, R. M. F., van de Beek, I. & Houweling, A. C., 1 Jan 2023, In: Genetics in medicine. 25, 1, p. 158-160 3 p.

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

  Open Access
  2 Citations (Scopus)

• “Hypothesis: Patient with possible disturbance in programmed cell death”: further insights in pathogenicity and clinical features of Fraser syndrome

  Rumping, L., Hennekam, R. C. M., Alders, M. & van Haelst, M. M., Jan 2023, In: European journal of human genetics. 31, 1, p. 16-17 2 p.

  Research output: Contribution to journal › Comment/Letter to the editor › Academic
  1 Citation (Scopus)
• 2021

  Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood (npj Genomic Medicine, (2021), 6, 1, (92), 10.1038/s41525-021-00256-y)

  Levy, M. A., Beck, D. B., Metcalfe, K., Douzgou, S., Sithambaram, S., Cottrell, T., Ansar, M., Kerkhof, J., Mignot, C., Nougues, M-C., Keren, B., Moore, H. W., Oegema, R., Giltay, J. C., Simon, M., van Jaarsveld, R. H., Bos, J., van Haelst, M., Motazacker, M. M., Boon, E. M. J., & 14 othersSanten, G. W. E., Ruivenkamp, C. A. L., Alders, M., Luperchio, T. R., Boukas, L., Ramsey, K., Narayanan, V., Schaefer, G. B., Bonasio, R., Doheny, K. F., Stevenson, R. E., Banka, S., Sadikovic, B. & Fahrner, J. A., 1 Dec 2021, In: NPJ GENOMIC MEDICINE. 6, 1, 100.

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

  Open Access

• Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders (Genetics in Medicine, (2021), 23, 6, (1065-1074), 10.1038/s41436-020-01096-4)

  Sadikovic, B., Levy, M. A., Kerkhof, J., Aref-Eshghi, E., Schenkel, L., Stuart, A., McConkey, H., Henneman, P., Venema, A., Schwartz, C. E., Stevenson, R. E., Skinner, S. A., DuPont, B. R., Fletcher, R. S., Balci, T. B., Siu, V. M., Granadillo, J. L., Masters, J., Kadour, M., Friez, M. J., & 6 othersvan Haelst, M. M., Mannens, M. M. A. M., Louie, R. J., Lee, J. A., Tedder, M. L. & Alders, M., Nov 2021, In: Genetics in medicine. 23, 11, p. 2228 1 p.

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

  Open Access
  4 Citations (Scopus)
• 2010

  Corrigendum to obesity syndrome, MOMES caused by deletion-duplication (4q35.1 del and 5p14.3 duplication) (American Journal of Medical Genetics Part A (2009) 149, 4, (833-834))

  Van Haelst, M. M., Wang, R., Kantaputra, P. N., Palmer, R. & Beales, P., 1 Jul 2010, In: American Journal of Medical Genetics, Part A. 152, 7, 1 p.

  Research output: Contribution to journal › Comment/Letter to the editor › Academic
• 2006

  Erratum: Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity (American Journal of Medical Genetics 140A, (1726-1736) DOI 10.1002/ajmg.a.31549

  Robertson, S. P., Jenkins, Z. A., Morgan, T., Adès, L., Aftimos, S., Boute, O., Fiskerstrand, T., Garcia-Minãur, S., Grix, A., Green, A., Der Kaloustian, V., Lewkonia, R., McInnes, B., Van Haelst, M. M., Macini, G., Illès, T., Mortier, G., Newbury-Ecob, R., Nicholson, L., Scott, C. I., & 8 othersOchman, K., Brozek, I., Shears, D. J., Superti-Furga, A., Suri, M., Whiteford, M., Wilkie, A. O. M. & Krakow, D., 15 Dec 2006, In: American Journal of Medical Genetics, Part A. 140, 24, 1 p.

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