Merel C van Maarle
Biographic Data
| ID | 8210594 |
|---|---|
| NAME | Merel C van Maarle |
| GIVEN NAMES | Merel C |
| FAMILY NAME | van Maarle |
| SIGNATURE | VAN MAARLE M C |
| AFFILIATIONS | Amsterdam UMC Location University of Amsterdam |
| VERIFIED | No |
| TOTAL WORKS | 1 |
| TOTAL CITATIONS | 0 |
| AUTHOR COUNT | 1 |
| EDITOR COUNT | 0 |
| FIRST PUBLICATION YEAR | 2017 |
| LATEST PUBLICATION YEAR | 2017 |
| H-INDEX | 0 |
With expanded carrier screening, founder populations run the risk of being overlooked
Genetically isolated populations exist worldwide. Specific genetic disorders, including rare autosomal recessive disorders may have high prevalences in these populations. We searched for Dutch genetically isolated populations and their autosomal recessive founder mutations. We investigated whether these founder mutations are covered in the (preconception) expanded carrier screening tests of five carrier screening providers. Our results show that …
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With expanded carrier screening, founder populations run the risk of being overlooked
Genetically isolated populations exist worldwide. Specific genetic disorders, including rare autosomal recessive disorders may have high prevalences in these populations. We searched for Dutch genetically isolated populations and their autosomal recessive founder mutations. We investigated whether these founder mutations are covered in the (preconception) expanded carrier screening tests of five carrier screening providers. Our results show that …
Biology (1 work) · Celiac Disease Research and Management (1 work) · Cystic Fibrosis Research Advances (1 work) · Folate and B Vitamins Research (1 work) · Founder effect (1 work) · Gene (1 work) · Genetics (1 work) · Genotype (1 work) · Haplotype (1 work) · Medicine (1 work)