Mariet W. Elting
Amsterdam University Medical Centers(NL)University of Amsterdam(NL)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Connective tissue disorders research, RNA modifications and cancer, Genomics and Rare Diseases, Congenital heart defects research
Most-Cited Works
- → ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3(2013)199 cited
- → Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia(2012)162 cited
- → A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype(2015)96 cited
- → Genotype–phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis(2009)86 cited
- → Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome(2021)34 cited
- → Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome(2022)33 cited
- → Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature(2016)22 cited
- → Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy(2018)16 cited
- → AUTS2-related syndrome: Insights from a large European cohort(2025)3 cited
- Genetic Corvitia: National registry for patients and families with a familial heart disease(2008)