Research output per year
Research output per year
Personal profile
Research interests
Genetic Obesity - genetic diagnostics, phenotyping, new treatment options
Syndromic obesity disorders
- 16p11.2 deletion syndrome
- Bardet-Biedl syndrome
- Disorders of GNAS inactivation
- GNB1
- PHIP (Chung-Jansen syndrome)
- Schaaf-Yang syndrome
Non-syndromic obesity disorders
- LEPR
- MC4R
- POMC
- SIM1
specialisation
Clinical Genetics
Research interests
Personalized medicine (Emma center for personalized medicine)
- Treatment for rare genetic disorders
- Proof-of-concept trial: Glibenclamide treatment for Cantú Syndroom
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Genetic Obesity Disorders: Body Mass Index Trajectories and Age of Onset of Obesity Compared with Children with Obesity from the General Population
Abawi, O., Wahab, R. J., Kleinendorst, L., Blankers, L. A., Brandsma, A. E., van Rossum, E. F. C., van der Voorn, B., van Haelst, M. M., Gaillard, R. & van den Akker, E. L. T., 1 Nov 2023, In: Journal of pediatrics. 262, 113619.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Impact of the COVID-19 pandemic and related lockdown measures on lifestyle behaviors and wellbeing in children and adolescents with severe obesity
Welling, M. S., Abawi, O., van den Eynde, E., van Rossum, E., Halberstadt, J., Brandsma, A., Kleinendorst, L., van den Akker, E. L. T. & van der Voorn, B., Mar 2022, In: Obesity Facts. 15, 2, p. 186-196 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access10 Citations (Scopus) -
Obesity and Hyperphagia With Increased Defective ACTH: A Novel POMC Variant
van der Valk, E. S., Kleinendorst, L., Delhanty, P. J. D., van der Voorn, B., Visser, J. A., van Haelst, M. M., de Graaff, L. C. G., Huisman, M., White, A., Ito, S., Wakamatsu, K., de Rijke, Y. B., van den Akker, E. L. T., Iyer, A. M. & van Rossum, E. F. C., 1 Sept 2022, In: Journal of clinical endocrinology and metabolism. 107, 9, p. e3699-e3704Research output: Contribution to journal › Article › Academic › peer-review
Open Access2 Citations (Scopus) -
Obesity-Associated GNAS Mutations and the Melanocortin Pathway
Kleinendorst, L., Boon, E. & van Haelst, M. M., 21 Jul 2022, In: The New England journal of medicine. 387, 3, p. 285 1 p.Research output: Contribution to journal › Letter › Academic › peer-review
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SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
University of Washington Center for Mendelian Genomics (UW-CMG) & Genomics England Research Consortium, Jun 2022, In: Genetics in medicine. 24, 6, p. 1261-1273 13 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access6 Citations (Scopus)
Press/Media
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Onderliggende oorzaken van ernstige obesitas bij kinderen
19/05/2020
1 item of Media coverage, 1 Media contribution
Press/Media: Press / Media
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