Mieke M. van Haelst
Amsterdam University Medical Centers(NL)University of Amsterdam(NL)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Congenital heart defects research, Genetic Syndromes and Imprinting
Most-Cited Works
- → A new highly penetrant form of obesity due to deletions on chromosome 16p11.2(2010)557 cited
- → Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus(2011)475 cited
- → A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism(2009)352 cited
- → Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome(2004)333 cited
- → Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities(2015)292 cited
- → Drug Repurposing for Rare Diseases(2021)270 cited
- → GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects