Dr. Dulika Sumathipala
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Publications
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All types ( 43 )
Books/Book Chapter ( 1 )
CD/DVD ( 1 )
Conference Paper ( 27 )
Journal Paper ( 12 )
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A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1.
Sumathipala, D.S., et al.,
Publication year: 2020
Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report.
Journal Paper
Sumathipala, D., et al.,
Publication year: 2020
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Journal Paper
Epting, D., Senaratne, L. D. S., Ott, E., Holmgren, A., Sumathipala, D. et al.,
Publication year: 2020
TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery
Journal Paper
Sumathipala, D., Stromme, P., Gilissen, C., Corominas, J., et al.
Publication year: 2019
A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease.
Kay, C., Collins, J. A., Caron, N. S., Agostinho, L. de A., Findley-Black, H., Casal, L., Sumathipala, D., et al.
Publication year: 2019
The Provision of Medical and Health Genetics and Genomics in the Developing World
Books/Book Chapter
Sirisena, D. Sumathipala, K. Wettasinghe, V.H.W. Dissanayake
Publication year: 2016
publication title here
CD/DVD
sample author
Publication year: 2016
homozygous frameshift variant outside the SAND domain of DEAF1 resulting in developmental delay, microcephaly and extrapyramidal symptoms
Conference Paper
Sumathipala D, Holmgren A, Larsen S. M., Misceo D, Frengen E, Strømme P Novel
Publication year: 2016
A Study on Hereditary Thrombophilia and Stroke in a Cohort from Sri Lanka.
Journal Paper
Kalpage, H. A., D. S. Sumathipala, H. W. Goonasekara, and V. H. Dissanayake.
Publication year: 2016
A Study on Hereditary Thrombophilia and Stroke in a Cohort from Sri Lanka.
Journal Paper
3. Kalpage, H.A., Sumathipala, D.S., Goonasekara, H.W., and Dissanayake, V.H.
Publication year: 2016
A case series of 7 Sri Lankan patients with type 1 spinal muscular atrophy
Journal Paper
Shree R Banstola, Nirmala D Sirisena, Dulika S Sumathipala, Vajira H W Dissanayake
Sri Lanka Journal of Child Health, ; 45(4): 247-249
Publication year: 2016
17p11.2 and Xq28 Duplication Detected in a Girl Diagnosed with Potocki-Lupski Syndrome
Journal Paper
Sumathipala, D. S., E. N. Mandawala, S. P. Sumanasena, and V. H. Dissanayake
Publication year: 2015
"Analyzing the Necessity of Prophylactic Antibiotic Usage in Laparoscopy for Uncomplicated Gynecologic Conditions in Sri Lanka
Journal Paper
Jayarathna, Y. R., S. Ranaraja, and D. S. Sumathipala
J Obstet Gynaecol 596-600.
Publication year: 2015
"A Survey of Scientist and Policy Makers' Attitudes toward Research on Stored Human Biological Materials in Sri Lanka.
Journal Paper
Dissanayake, V. H., D. S. Sumathipala, U. G. Kariyawasam, J. M. Jayamanne, P. K. Nisansala, and R. Lie
Publication year: 2015
ssessment of knowledge regarding Pentavalent immunization amongst mothers in the MOH division of Aranayake
Conference Paper
Sumathipala, GRMUGP Jayawardena
Publication year: 2014
Phenotypic Spectrum of Sri Lankan Females with Isochromosome X
Conference Paper
M.A. Jayawardana, D. Sumathipala, R.W. Jayasekara, V.H.W. Dissanayake
Publication year: 2014
Phenotypic characterization of a cohort of patients with – α 7 and – α 4.2 deletions
Conference Paper
Jayawardena SMA, Wettasinghe KT, Sumathipala D, Goonasekera HWW, Dissanayake VHW
Publication year: 2014
Maternally Inherited Unbalanced Chromosomal (1;17) Translocation Presenting as Craniofacial dysmorphism, Developmental Delay, and Multiple Congenital Malformations
Conference Paper
Weerapperuma KND, Mandawala EDN, Sumathipala DS, Dissanayake VHW
Publication year: 2014
Initial report of MECP2 gene mutation in three girls with Rett syndrome in Sri Lanka
Conference Paper
Jayawardena SMA, Sumathipala DS, Hidellage NT, Abeysekara AAGS, Ratnayake PD, Jayasekara RW, Dissanayake VHW
Publication year: 2014
Evaluation of infantile spasm in a cohort of Sri Lankan children with Tuberous Sclerosis Complex
Conference Paper
Senarathne LDS, Oye AM, Selmer KK, Wanigasinghe J, Sumathipala DS, Jayasekara RW, Dissanayake VHW
Publication year: 2014
Effect of using English as the medium of instruction on the academic performance of first year medical undergraduates
Conference Paper
D Sumathipala, C Rodrigo, S Banu, S Rajapakse
Publication year: 2014
Clinical evaluation and genetic study of Tuberous Sclerosis Complex in a cohort of Sri Lankan children
Conference Paper
Senarathne LDS, Oye AM, Selmer KK, Wanigasinghe J, Sumathipala DS, Neththikumara NF, Jayasekara RW, Dissanayake VHW
Publication year: 2014
Clinical evaluation and genetic study of Tuberous Sclerosis Complex in a cohort of Sri Lankan children
Conference Paper
Senarathne LDS, Oye AM, Selmer KK, Wanigasinghe J, Sumathipala DS, Jayasekara RW, Dissanayake VHW.
Publication year: 2014
Clinical characterization of a cohort of Sri Lankan families with inherited cancer syndromes
Conference Paper
Dissanayake NDW, Sirisena ND, Sumathipala D, Dissanayake VHW
Publication year: 2014
Clinical and genetic features of Spinal Muscular Atrophy in Sri Lanka
Conference Paper
SR Banstola, ND Sirisena, DS Sumathipala, VHW Dissanayake, RW Jayasekara
Ceylon Medical Journal 59
Publication year: 2014
A patient with Turner syndrome with a karyotype of 45, X [38]/ 46, X, r (X)[16]
Conference Paper
Gunathilake KMD, Kariyawasam UGIU, Udalamaththa AVLK, Sumathipala DS, Sirisena ND, Dissanayake VHW
Publication year: 2014
A male infant with partial monosomy of 7p 21 syndrome associated with craniosynostois, craniofacial dysmorphism and non communicating hydrocephalus
Conference Paper
D Wanigasekera, D. Sumathipala, I. Kariyawasam, V. Udalamaththa, V H W Dissanayake
Publication year: 2014
A child with partial trisomy 8p and partial monosomy 11q presenting with dysmorphic features and global developmental delay
Conference Paper
V.L.K. Udalamaththa, U.G.I.U. Kariyawasam, D.S. Sumathipala, M. De Silva, R.W. Jayasekara, V.H.W. Dissanayake
Publication year: 2014
A Case Series of Four Sri Lankan Patients with 5p deletion
Conference Paper
Senaratne LDS, Gautham B, Sumathipala D.S, Sirisena N.D, Jayasekera R.W, Dissanayake V.H.W
Publication year: 2014
Clinical and genetic features of Huntington disease in Sri Lanka
Journal Paper
Sumathipala, D.S., R.W. Jayasekara, and V.H. Dissanayake
Publication year: 2013
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