Gita Tan-Sindhunata

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

Karuna R. M. van der Meij, Erik A. Sistermans, Merryn Macville et al. · The American Journal of Human Genetics · 2019 · 374 citations · Full text

Medicine, Maternal Health, Obstetrics +17

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

Robert M.W. Hofstra, Jan Osinga, Gita Tan-Sindhunata et al. · Nature Genetics · 1996 · 299 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Tony Roscioli, Erik‐Jan Kamsteeg, Karen Buysse et al. · Nature Genetics · 2012 · 212 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

Diane Van Opstal, Merel C. van Maarle, Klaske D. Lichtenbelt et al. · Genetics in Medicine · 2017 · 118 citations · Full text

Life Sciences, Genetics, Obstetrics +17

Phenotypic variability of Cat-Eye syndrome.

M J Berends, Gita Tan-Sindhunata, Beike Leegte et al. · PubMed · 2001 · 103 citations

Life Sciences, Genetics, Molecular Genetics +13