Mieke van Haelst

DR.

20002020

Research output per year

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Personal profile

Research interests

Dr. Mieke van Haelst is a consultant clinical geneticist, highly experienced in pediatric genetics and genetics of obesity disorders. She has a strong research interest in identifying new genetic causes of rare Mendelian diseases. Fruitful international collaborations already successfully led to detection of novel genetic causes of rare diseases published in high impact journals. She has set up several molecular diagnostic genetic services for these disorders. She is the president of the Dutch Society of Human Genetics (NVHG), chair of the committee for Dutch Genetics Conferences and organizer the bi-annual joint Dutch-British Clinical Genetics Meetings. She has initiated yearly European Clinics for rare genetic disorders (Cantu clinic, 16p11.2 clinic and STXBP1 clinic) and is the founder of the European obesity genetic collaboration meeting. She is a faculty member of the Indian UK education forum participating in yearly lectures at Indian Universities. At the moment she is supervising 6 PhD students and the Lead Trainer for Specialist Registrars in Clinical Genetics at VUmc, Amsterdam.

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Research Output

  • 87 Article
  • 5 Meeting Abstract
  • 4 Review article
  • 2 Comment/Letter to the editor

Leptin receptor deficiency: A systematic literature review and prevalence estimation based on population genetics

Kleinendorst, L., Abawi, O., van der Kamp, H. J., Alders, M., Meijers-Heijboer, H. E. J., van Rossum, E. F. C., van den Akker, E. L. T. & van Haelst, M. M., 1 Jan 2019, In : European Journal of Endocrinology. 182, 1, p. 47-56 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Genetic Obesity and Bariatric Surgery Outcome in 1014 Patients With Morbid Obesity

Cooiman, MI., Kleinendorst, L., Aarts, E. O., Janssen, I. M. C., Ploos van Amstel, H. K., Blakemore, A. I., Hazebroek, E. J., Meijers-Heijboer, EJ., van der Zwaag, B., Berends, F. J. & van Haelst, MM., Feb 2020, In : Obesity Surgery. 30, 2, p. 470-477 8 p., 10.1007/s11695-019-04184-w.

Research output: Contribution to journalArticleAcademicpeer-review

Genetic obesity: next-generation sequencing results of 1230 patients with obesity

Kleinendorst, L., Massink, M. P. G., Cooiman, M. I., Savas, M., van der Baan-Slootweg, O. H., Roelants, R. J., Janssen, I. C. M., Meijers-Heijboer, H. J., Knoers, N. V. A. M., Ploos van Amstel, H. K., van Rossum, E. F. C., van den Akker, E. L. T., van Haaften, G., van der Zwaag, B. & van Haelst, M. M., Sep 2018, In : Journal of Medical Genetics. 55, 9, p. 578-586 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Heterozygous KIDINS220/ARMS Nonsense Variants Cause Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity

Josifova, D., Monroe, G. R., Tessadori, F., de Graaff, E., van der Zwaag, B., Mehta, S., Harakalova, M., Duran, K. J., Savelberg, S. M. C., Nijman, I. J., Jungbluth, H., Hoogenraad, C., Bakkers, J. P. W., Koers, N., Firth, H. V., Beales, P. L., Van Haaften, G. & van Haelst, MM., Jun 2016, In : Human Molecular Genetics. 25, p. 2158-2167 10.1093/hmg/ddw082.

Research output: Contribution to journalArticleAcademicpeer-review

Mutations in GRIP1 Cause Fraser Syndrome

Vogel, M. J., van Zon, P., Brueton, L., Gijzen, M., van Tuil, M., Cox, P., Schanze, D., Kariminejad, A., Ghaderi-Sohi, S., Blair, E., Zenker, M., Scambler, P. J., Ploos van Amstel, H. K. & van Haelst, MM., May 2012, In : Journal of Medical Genetics. p. 303-6 10.1136/jmedgenet-2011-100590.

Research output: Contribution to journalArticleAcademicpeer-review