Research output per year
Research output per year
Personal profile
Research interests
Dissecting the genomic causes of intellectual disability (ID) and autism
spectrum disorders (ASD) and their comorbidity in a genetically isolated (inbred) population.
ID and ASD are complex neurodevelopmental disorders which are both highly heritable. The conditions have many risk factors in common, including genetic susceptibility loci. Despite the high heritability of both diseases, causative genetic variants for these disorders remain mostly unknown.
Inbred populations have been used in the past to successfully map rare diseases. The rationale behind this is that inbred populations tend to be genetically homogeneous, therefore some rare disease alleles will be enriched, resulting in more affected homozygote individuals. Recent studies have shown that the analysis of genetic risk factors for complex diseases can also be aided by sampling homogeneous populations. For example, a locus for schizophrenia has been identified in a Basque population, and several loci for affective disorders were found in Northern Sweden. Our study aims to analyze a genetically isolated population to determine loci for ID and ASD.
specialisation
Complex Trait Genetics
Ancillary activities
No ancillary activities
Ancillary activities are updated daily
Education/Academic qualification
Master, University of Cambridge
1 Sept 2016 → 1 Jul 2017
Master, UMC Utrecht
1 Aug 2008 → 1 Nov 2014
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
Research output
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Influence of autozygosity on common disease risk across the phenotypic spectrum
23andMe Research Team & Genes & Health Research Team, 12 Oct 2023, In: Cell. 186, 21, p. 4514-4527.e14 29 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access1 Citation (Scopus) -
Influence of autozygosity on common disease risk across the phenotypic spectrum
van Walree, E. S., Malawsky, D. S., Jacobs, B. M., Hiang Heng, T., Huang, Q. Q., Sabir, A. H., Rahman, S., Malik Sharif, S., Khan, A., Umićević Mirkov, M., Kuwahara, H., Gao, X., Alkuraya, F. S., Posthuma, D., Newman, W. G., Griffiths, C. J., Mathur, R., van Heel, D. A., Finer, S., O'Connell, J., & 1 others, 12 Oct 2023, In: Cell.Research output: Contribution to journal › Article › Academic › peer-review
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Disentangling Genetic Risks for Metabolic Syndrome
van Walree, E. S., Jansen, I. E., Bell, N. Y., Savage, J. E., de Leeuw, C., Nieuwdorp, M., van der Sluis, S. & Posthuma, D., 1 Nov 2022, In: Diabetes. 71, 11, p. 2447-2457 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access7 Citations (Scopus) -
Erratum: Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms(Genet Med (2021)23(103-110)(s41436020009394)(10.1038/s41436-020-00939-4))
van Walree, E. S., Dombrowsky, G., Jansen, I. E., Umićević Mirkov, M., Zwart, R., Ilgun, A., Guo, D., Clur, S-A. B., Amin, A. S., Savage, J. E., van der Wal, A. C., Waisfisz, Q., Maugeri, A., Wilsdon, A., Bu'Lock, F. A., Hurles, M. E., Dittrich, S., Berger, F., Audain Martinez, E., Christoffels, V. M., & 6 others, 1 Apr 2022, In: Genetics in medicine. 24, 4, p. 965 1 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic
Open Access -
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms
van Walree, E. S., Dombrowsky, G., Jansen, I. E., Umićević Mirkov, M., Zwart, R., Ilgun, A., Guo, D., Clur, S-A. B., Amin, A. S., Savage, J. E., van der Wal, A. C., Waisfisz, Q., Maugeri, A., Wilsdon, A., Bu'Lock, F. A., Hurles, M. E., Dittrich, S., Berger, F., Audain Martinez, E., Christoffels, V. M., & 6 others, Apr 2022, In: Genetics in medicine. 24, 4, p. 965-965 1 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic
Open Access