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Deepthi De Silva

Observed names: Deepthi C. De Silva, Deepthi C. de Silva, Deepthi De silva, Deepthi de Silva, Deepthi de Silva, de Silva, Deepthi, de Silva, Deepthi C
ORCID: 0000-0003-1236-4971
Observed ORCID: 0000-0003-1236-4971
OpenAlex ID: A5073199872
Mutations in CDC45 , Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis
2016 · Aimee L. Fenwick, Maciej Kliszczak, et al. · The American Journal of Human Genetics · 118
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Mutations in ANTXR1 Cause GAPO Syndrome
2013 · Viktor Stránecký, Alexander Hoischen, et al. · The American Journal of Human Genetics · 90
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Noncoding copy-number variations are associated with congenital limb malformation
2017 · Ricarda Flöttmann, Bjørt K. Kragesteen, et al. · Genetics in Medicine · 51
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Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations inMBTPS2
2013 · Dorothea Bornholdt, T. Prescott Atkinson, et al. · Human Mutation · 37
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Exploring the genetic basis of 3MC syndrome: Findings in 12 further families
2016 · Jill Urquhart, Rebecca Roberts, et al. · American Journal of Medical Genetics Part A · 27
Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features
2018 · Daham De Silva, Kathleen A. Williamson, et al. · BMC Pediatrics · 12
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Characteristic dental pattern with hypodontia and short roots in Fraser syndrome
2020 · Felix Kunz, Hülya Kayserili, et al. · American Journal of Medical Genetics Part A · 10
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Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum
2025 · Sandra Coppens, Nicolas Deconinck, et al. · Annals of Neurology · 4
RB1 screening of retinoblastoma patients in Sri Lanka using targeted next generation sequencing (NGS) and gene ratio analysis copy enumeration PCR (GRACE-PCR)
2023 · Nirosha Kugalingam, Deepthi De Silva, et al. · BMC Medical Genomics · 4
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Retinoblastoma patients treated in Sri Lanka from 2014 to 2020: epidemiology, clinical status and correlates of lag time in seeking tertiary care services
2024 · Nirosha Kugalingam, Deepthi de Silva, et al. · BMC Ophthalmology · 2
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Correction: Arterial tortuosity syndrome: 40 new families and literature review
2018 · Aude Beyens, Juliette Albuisson, et al. · Genetics in Medicine · 2
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Confirmation of mosaic trisomy 22 in an infant with failure to thrive
2018 · Kavinda Chandimal Dayasiri, Deepthi De Silva, et al. · Sri Lanka Journal of Child Health · 2
Emerging issues in genetic testing in Sri Lanka
2007 · Deepthi De Silva · Indian Journal of Medical Ethics · 1
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RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort
2026 · Dena R. Matalon, Angela L. Duker, et al. · Genetics in Medicine
Expanding the phenotype associated with biallelic SCNM1 variants
2025 · Asier Iturrate, Frédéric Tran-Mau Them, et al. · Human Genomics
Severe short rib thoracic dysplasia-16 associated with the c424C>T pathogenic variant in the Intra Flagellar Transport 52 (IFT52) gene
2025 · Bimsara Yohan Abeyrathna, Deepthi C. De Silva, et al. · Sri Lanka Journal of Child Health
A case of short rib thoracic dysplasia-16 associated with the IFT52 c424C>T mutation
2023 · Bimsara Yohan Abeyrathna, Deepthi De Silva, et al. · Research Square
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PYCR1 Levels Track with Premature and Chronological Skin Aging
2023 · Kortessa Sotiropoulou, Saniye Yumlu, et al.
PYCR1 Levels Track with Premature and Chronological Skin Aging
2023 · Kortessa Sotiropoulou, Saniye Yumlu, et al.
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PYCR1 Levels Track with Premature and Chronological Skin Aging
2023 · Kortessa Sotiropoulou, Saniye Yumlu, et al. · medRxiv
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Evaluation of consonant development following cleft palate surgery: Comparison of Isolated Cleft Palate Versus Pierre Robin sequence
2023 · Malka Jayathilake, Deepthi De Silva, et al. · International Journal of Scientific and Research Publications
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Arterial tortuosity syndrome: A rare inherited form of connective tissue disorder with SLR2A10 gene mutation
2022 · Sithija Wijesinghe, Deepthi De Silva, et al. · Sri Lanka Journal of Child Health
Thyroid Gland and Male Reproductive Anomalies Among Fuel Handlers in Gampaha District, Sri Lanka
2021 · Dulani Chathurika Kottahachchi, Tania Warnakularuriya, et al. · Journal of the Endocrine Society
Nail-patella syndrome: Clinical importance of diagnosis
2021 · Faheema Kaleel, Romesh Gunasekera, et al. · Sri Lanka Journal of Child Health
Evaluation of an in house genetic testing method for confirmation of Prader - Willi and Angelman syndromes in Sri Lanka
2021 · Nirosha Panchananthan, Deepthi De Silva, et al. · Research Square
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Works count: 31
Citation count: 360
H-index: 7
I10-index: 7
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