Deepthi De Silva

Deepthi De Silva

University of Kelaniya - Kelaniya / Sri Lanka
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 6103837
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person_outline Deepthi De Silva's MOST POPULAR ARTICLES
1-) How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum European Journal of Human Genetics 20 (4), 381-388, 2012
2-) Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis The American Journal of Human Genetics 99 (1), 125-138, 2016
3-) Arterial tortuosity syndrome: 40 new families and literature review Genetics in Medicine 20 (10), 1236-1245, 2018
4-) FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly Journal of medical genetics 50 (9), 585-592, 2013
5-) Mutations in ANTXR1 cause GAPO syndrome The American Journal of Human Genetics 92 (5), 792-799, 2013