Dulika S. Sumathipala
Oslo, 0450, Norway
Last Updated: 09/26/2026
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Found 12 publications
Whole genome sequencing in cerebral palsy: a UK paediatric pilot study.
Journal: The Lancet regional health. Europe
Published: March 07, 2026
Cost-comparison of resequencing versus archival data methods for periodic reanalysis of genomic data in rare diseases diagnosis: A UK pilot analysis.
Journal: European journal of medical genetics
Published: August 08, 2025
GENCODE 2025: reference gene annotation for human and mouse.
Journal: Nucleic acids research
Published: September 13, 2024
GENCODE: reference annotation for the human and mouse genomes in 2023.
Journal: Nucleic acids research
Published: September 22, 2022
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.
Journal: Brain : a journal of neurology
Published: March 29, 2022
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
Journal: Brain : a journal of neurology
Published: March 31, 2021
A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1.
Journal: Clinical dysmorphology
Published: January 14, 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: BMC medical genetics
Published: December 27, 2019
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Journal: Human mutation
Published: June 20, 2019
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: Pediatric neurology
Published: January 30, 2019
Showing 1-12 of 12
Last Updated: 09/26/2026