Publication Types:

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

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

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

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

Molecular and clinical characterization of autosomal dominant ataxia in Sri Lanka

Conference Paper
Sumathipala, D., Madushanka, D. B. R., Abeysekara, A. A. G. S., Jayasekara, R., Tallaksen, C., Dissanayake V. H
Publication year: 2012

Clinical and Molecular genetic features of Huntington’s disease in Sri Lanka

Conference Paper
Sumathipala, D., Jayasekara, R., Dissanayake V. H. W
Publication year: 2012

Is there a relationship between rainfall and incidence of Dengue fever?

Conference Paper
BMWDS Hemamali, WLDS Sumathipala
Publication year: 2011

The analysis of risk factors for age related cataracts 2006

Conference Paper
Sumathipala DS, Wijerathne R, Sarabavananda S
Publication year: 2006