• Clinical Genetics -esp. Clefting associated syndromes and other congenital malformations

• Physiological Society of Sri Lanka, Koch Oration (2016): ‘Exploring the complexities of Congenital heart disease’ 

• Member / Board of Study in Basic and Medical Sciences / PGIM/ University of Colombo: 2013 to 2015
• Member of the BOS in Multidisciplinary Study Course 2012 to 2015
• Member / Board of Study in Molecular Medicine / PGIM/ University of Colombo 01/09/2007 to 2017
• President / The Physiological Society of Sri Lanka 2014
• Vice President, South Asian Association of Physiologists 2015 and 2016
• Member of NSF committee developing a regulatory framework for nanotechnology related activities in Sri Lanka 2011-2013.
• Quality Assurance reviewer University of Peradeniya
• Member of Biotechnology committee, NSF 2019
• Secretary, Kelaniya Medical Faculty Teachers Association, from 2003 to 2004.
• Chairperson of the Scientific committee, 3^rd Biennial Conference of the South Asian Association of Physiologists (SAAP3) 2012

1. De Silva DC, Johnston AW, Dean JC. Tuberous sclerosis—an unusual cause of seizures in an 18 year old. Scottish medical journal. 1994 Feb;39(1):19-20.
2. Turnpenny PD, De Silva D, Gregory DW, Gray ES, Dean JCS.A new autosomal dominant hidrotic ectodermal dysplasia or an allelic form of Clouston syndrome? Clinical Dysmorphology 1995; 4:324-333
3. De Silva D, Booth P, Auchterlonie I, Morrison N and Dean JCS. Microdeletion of 22q11: further demonstration of phenotypic heterogeneity.Clinical Dysmorphology 1995; 4:294-303
4. De Silva D, Gilbert F, Needham G, Deans H and Haites N. Identification of women at high genetic risk of breast cancer through the National Health Service Breast Screening Programme (NHSBSP).Journal of Medical Genetics 1995; 32:862-866
5. Schofield A, Muir E, De Silva D, Gregory H and Haites N.Male breast cancer: the important of recognising the family history and results of preliminary linkage studies to the BRCA1 and BRCA2 genes.Breast 1996; 5:147-151
6. Gregory H, Schofield A, De Silva D, Semper J, Milner B, Alan L and Haites N. Ascertainment of familial ovarian cancer at the Aberdeen genetic clinic.Journal of Medical Genetics 1996; 33:187-192
7. De Silva D, Wright M, Stevenson D, Clark C, Gray E, Holmes H, Dean JCS, Haites N and Dunlop M.Cranial desmoid tumour associated with homozygous inactivation of the APC gene in a 2 year old girl with familial adenomatous polyposis (FAP) Cancer 1996; 77:972-976
8. Kidd A, Carson L, Gregory D, De Silva D, Dean JCS, Holmes J and Haites N.A Scottish Family with Bazec-Dupré-Chrystol Disease.Journal of Medical Genetics 1996; 33(6):493-7
9. De Silva D, Wheatly D, Herriot R, Brown T, Stevenson D, Helms P and Dean JCS.Mulvihill-Smith progeria like syndrome - a further case report and observations of novel fibroblast abnormalities.American Journal of Medical Genetics 1997; 69:56-64
10. De Silva D, Jayasekera A, Rubasinghe A, De Silva DGH.Attitudes towards genetic counselling and testing among medical students and newly qualified doctors.Ceylon Med. J 1997; 42:129-132
11. De Silva D, Osborne A, Simpson S, Dean JCS and Seaton A. Opitz oculo-laryngo-genital syndrome: a rare cause of recurrent aspiration pneumonia in an adult.Thorax 1998; 53:149-150
12. De Silva D, Massie D, Cousin D and Dean JCS.Mosaicism for a tandem duplication dup (1)(q12q22) in an 18 year old female. Journal of Medical Genetics 1998; 35:600-603
13. De Silva D, Fernando R.Familial adenomatous polyposis.Ceylon Med. J 1998; 42:99-105
14. Miedzybrodzka Z, Hattersley AT, Ellard S, Pearson D, De Silva D, Harvey R, Haites N.Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha. gene: implications for predictive testing.Eur J Hum Genet. 1999 Sep; 7(6):729-32
15. Sumathipala A, Siribaddana S, De Silva N, Fernando D, Abeysingha N, Dayaratne R, De Silva D, Warnasuriya N, Hotopf M. Sri Lankan Twin Registry.Twin Res. 2002 Oct; 5(5):424-6.
16. Sumathipala A, Siribaddana SH, Abeysingha NM, De Silva N, Fernando DJ, Dayaratne DA, De Silva D, Warnasuriya ND, Hotopf M. Challenges in recruiting older twins for the Sri Lankan twin registry.Twin Res. 2003 Feb; 6(1):67-71.
17. De Silva D.Genetic testing for single gene disorders. Ceylon Med. J. 2004; 49(1) p 18-20
18. De Silva D. Emerging issues in Genetic testing in Sri Lanka.Indian J. Med Ethics. 2007; 4(3): 133
19. De Silva DC, Wijesiriwardene B.The adrenal glands and their functions.Ceylon Med J. 2007 Sep; 52(3):95-100.
20. Wijesiriwardene B, De Silva DC. Adrenal hypersecretion.Ceylon Med J. 2007 Sep;52(3):104-9.
21. Wijesiriwardene B, De Silva DC.Adrenal insufficiency.Ceylon Med J. 2007 Sep; 52(3):100-3.
22. De Silva D, Jayawardene P, Hapangama A, Suraweera E., Ranjani D, Fernando S, Karunasena C, Jinadasa S. Attitudes toward prenatal diagnosis and termination of pregnancy for genetic disorders among healthcare workers in a selected setting in Sri Lanka.Prenat Diagn. 2008 Aug;28(8):715-21.
23. Vilain C, Mortier G, Van Vliet G, Dubourg C, Heinrichs C, de Silva D, Verloes A, Baumann C. Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review. Am J Med Genet A. 2009 Jul;149A(7):1476-81
24. Prabodha LB, Dias DK, Nanayakkara BG, de Silva DC, Chandrasekharan NV, Ileyperuma I.Evaluation of 22q11.2 deletion in Cleft Palate patients.Ann Maxillofac Surg. 2012 Jul;2(2):121-6.
25. Siddharth Banka,1, Ratna Veeramachaneni1, William Reardon, Emma Howard, Sancha Bunstone1, Nicola Ragge, Michael J Parker, Yanick J Crow, Bronwyn Kerr, Helen Kingston, Kay Metcalfe, Kate Chandler, Alex Magee, Fiona Stewart, Vivienne PM McConnell, Deirdre E Donnelly, Siren Berland6, Gunnar Houge6, Jenny E Morton, Christine Oley, Nicole Revencu, Soo-Mi Park, Sally J Davies, Andrew E Fry, Sally Ann Lynch, Harinder Gill, Susann Schweiger, Wayne WK Lam, John Tolmie, Shehla N Mohammed, Emma Hobson1, Audrey Smith1, Moira Blyth, Christopher Bennett1, Pradeep C Vasudevan, Sixto Garcý´a-Min, Alex Henderson, Judith Goodship, Michael J Wrightt Richard Fisher, Richard Gibbons, Susan M Price, Deepthi C de Silva, I Karen Temple, Amanda L Collins, Katherine Lachlan, Frances Elmslie, Meriel McEntagart, Bruce Castle, Jill Clayton-Smith, Graeme C Black and Dian Donnai.How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. European Journal of Human Genetics (2012) 20,381-388
26. de Silva DC, de Leeuw N, Gunasekera R.Soto syndrome: a rare overgrowth disorder.Ceylon Med J. 2013 Mar;58(1):40-2. doi: 10.4038/cmj.v58i1.5367. No abstract available.
27. Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.Bornholdt D, Atkinson TP, Bouadjar B, Catteau B, Cox H, De Silva D, Fischer J, Gunasekera CN, Hadj-Rabia S, Happle R, Holder-Espinasse M, Kaminski E, König A, Mégarbané A, Mégarbané H, Neidel U, Oeffner F, Oji V, Theos A, Traupe H, Vahlquist A, van Bon BW, Virtanen M, Grzeschik KH.Hum Mutat. 2013 Apr;34(4):587-94. doi: 10.1002/humu.22275. Epub 2013 Mar 8.
28. Stránecký V, Hoischen A, Hartmannová H, Zaki MS, Chaudhary A, Zudaire E, Nosková L, Barešová V, Přistoupilová A, Hodaňová K, Sovová J, Hůlková H, Piherová L, Hehir-Kwa JY, de Silva D, Senanayake MP, Farrag S, Zeman J, Martásek P, Baxová A, Afifi HH, St Croix B, Brunner HG, Temtamy S, Kmoch S.Mutations in ANTXR1 cause GAPO syndrome.Am J Hum Genet. 2013 May 2;92(5):792-9. doi: 10.1016/j.ajhg.2013.03.023. Epub 2013 Apr 18.
29. Simonis N, Migeotte I, Lambert N, Perazzolo C, de Silva DC, Dimitrov B, Heinrichs C, Janssens S, Kerr B, Mortier G, Van Vliet G, Lepage P, Casimir G, Abramowicz M, Smits G, Vilain C.FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. J Med Genet. J Med Genet 2013;50:585–592
30. Alireza Haghighi, Zohreh Kavehmanesh, F Salehzadeh, F Santos‐Simarro, L Maldergem, L Cimbalistiene, F Collins, M Chopra, S Al‐Sinani, S Dastmalchian, DC de Silva, H Bakhti, A Garg, P Hilbert.Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum. Clinical Genetics 89 (Issue 4), 434–441
31. 31. Jill Urquhart, Rebecca Roberts, Deepthi de Silva, Stavit Shalev, Elena Chervinsky,Sheela Nampoothiri, Yves Sznajer, Nicole Revencu, Romesh Gunasekera, Mohnish Suri,Jamie Ellingford, Simon Williams, Sanjeev Bhaskar and Jill Clayton-SmithExploring the Genetic Basis of 3MC Syndrome: Findings in 12 Further Families.Am J Med Genet Part A (2016) 170A:1216–1224.
32. Aimee L Fenwick, Maciej Kliszczak, Fay Cooper, Jennie Murray, Luis Sanchez-Pulido, Stephen RF Twigg, Anne Goriely, Simon J McGowan, Kerry A Miller, Indira B Taylor, Clare Logan, Sevcan Bozdogan, Sumita Danda, Joanne Dixon, Solaf M Elsayed, Ezzat Elsobky, Alice Gardham, Mariette JV Hoffer, Marije Koopmans, Donna M McDonald-McGinn, Gijs WE Santen, Ravi Savarirayan, Deepthi de Silva, Olivier Vanakker, Steven A Wall, Louise C Wilson, Ozge Ozalp Yuregir, Elaine H Zackai, Chris P Ponting, Andrew P Jackson, Andrew OM Wilkie, Wojciech Niedzwiedz, Louise S Bicknell, WGS500 Consortium.Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis. The American Journal of Human Genetics 2016; 99 (1), 125-138
33. Beyens A, Albuisson J, Boel A,Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, J Coucke P, A Cousin M, Dasouki M,  De Backer J, De Paepe A, De Schepper S,  De Silva D, Devriendt K,  De Wandele I, R Deyle D, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A,  Ghoumid J, Giuliano F, Baena Diéz N, Mohammed Z Haider, Joshua S Hardin, Xavier Jeunemaitre, Eric W Klee, Uwe Kornak, Manuel F Landecho, Anne Legrand, Bart Loeys, Stanislas Lyonnet, Helen Michael, Pamela Moceri, Shehla Mohammed, Laura Muiño-Mosquera, Sheela Nampoothiri, Karin Pichler, Katrina Prescott, Anna Rajeb, Maria Ramos-Arroyo, Massimiliano Rossi, Mustafa Salih, Mohammed Z Seidahmed, Elise Schaefer, Elisabeth Steichen-Gersdorf, Sehime Temel, Fahrettin Uysal, Marine Vanhomwegen, Lut Van Laer.Arterial tortuosity syndrome: 40 new families and review of the literature.Genetics in Medicine  2018; volume 20, pages1236–1245
34. De Silva D, Williamson KA, Dayasiri KC, Suraweera N, Quinters V, Abeysekara H, Wanigasinghe J, De Silva D, De Silva H. 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. BMC pediatrics. 2018 Dec;18(1):1-5.
35. Noncoding copy-number variations are associated with congenital limb malformation.Flöttmann, B.K. Kragesteen, S. Geuer, M. Socha, L. Allou, A. Sowińska-Seidler, L. Bosquillon de Jarcy, J. Wagner, A. Jamsheer, B. Oehl-Jaschkowitz, L. Wittler, D. de Silva, I. Kurth, I. Maya, F. Santos-Simarro, W. Hülsemann, E. Klopocki, R. Mountford, A. Fryer, G. Borck, D. Horn, P. Lapunzina, M. Wilson, B. Mascrez, D. Duboule, S. Mundlos, M. Spielmann.Genetics in Medicine 2018; 20(6) 599-607
36. Nilini DD, de Silva D. Intra oral characteristics of a series of Oculo-Auricular-Vertebral (OAV) Spectrum patients referred to the Lady Ridgeway Hospital for children, Sri Lanka. Sri Lankan Journal of Orthodontics.:62.
37. Tarnauskaitė Ž, Bicknell LS, Marsh JA, Murray JE, Parry DA, Logan CV, Bober MB, de Silva DC, Duker AL, Sillence D, Wise C. Biallelic variants in DNA2 cause microcephalic primordial dwarfism. Human mutation. 2019 Aug;40(8):1063-70.
38. Kunz F, Kayserili H, Midro A, de Silva D, Basnayake S, Güven Y, Borys J, Schanze D, Stellzig‐Eisenhauer A, Bloch‐Zupan A, Zenker M. Characteristic dental pattern with hypodontia and short roots in Fraser syndrome. American Journal of Medical Genetics Part A. 2020 Jul;182(7):1681-9.
39. Elsner J, Mensah MA, Holtgrewe M, Hertzberg J, Bigoni S, Busche A, Coutelier M, de Silva DC, Elçioglu N, Filges I, Gerkes E. Genome sequencing in families with congenital limb malformations. Human Genetics. 2021 Jun 22:1-1.

Invited Article

• Consanguinity and human disease: Myths and realities .SLAAS Section A Newsletter March 2017

• De Silva D.  Cancer genetics. Secrets in the Genes- Adoption, inheritance and genetic disease. Edited by P Turnpenny (1995) Russell Press

• De Silva D. Genetic disorders and Medical genetics in Sri Lanka. In Genetic disorders of the Indian subcontinent. Ed. Dr. Dhavendra Kumar (2004) Kluwer academic press.

• De Silva DGenetic variation and Genetic epidemiology of Sri LankaIn - Genomics and Health in the developing world (2012) p 984 – 998. Oxford University Press. Editor Dhavendra Kumar

• De Silva D, Amarasena S, Samarasinghe D, Mangalika M.Ivemark syndrome - a case report.Ceylon Med. J 1997; 42:112

• De Silva D, Amarasena S, Fernando A.Ethical aspects of CMJ articles.Ceylon Med. J 1997; 42:103

• Dean JCS, De Silva DC, Reardon W.Craniosynostosis and chromosome 22q11 deletion.J Med Genet 1998; 35:346

• De Silva D, Verloes A.Further delineation of the Verloes-Koulischer-oro-acral (VKOA) syndrome
• American Journal of Medical Genetics 1999(80): 535-537

• De Silva D, Suriyawansa D, Mangalika M, Samarasinghe D. Meckel Gruber syndrome--a single gene cause of recurrent neural tube defects. Ceylon Med J. 2001 Mar; 46(1):30.

• Microdeletion diagnosis
• Retinoblastoma genetics
• Congenital deafness

• Undergraduate teaching of Physiology and Genetics
• Postgraduate teaching of physiology and genetics, PGIM, University of Colombo
• Supervision of two PhD students (Faculty of Science, University of Colombo