Dulika Sumathipala

Australian National University

Australia

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Articles (10)

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2023

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2023

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2023

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2022

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2022

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2020

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2020

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2020

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2020

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2020

Collaborators (20)

Bethany Flint

Wellcome Sanger Institute

UNITED KINGDOM

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Matthew Hardy

European Bioinformatics Institute

UNITED KINGDOM

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Kari-Anne Myrum Frikstad

Oslo University Hospital

NORWAY

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Zoe Hollis

European Bioinformatics Institute

UNITED KINGDOM

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Elizabeth Wass

European Bioinformatics Institute

UNITED KINGDOM

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Nicole Ingeborg Wolf

Child Neurologist, associate professor

University of Amsterdam

NETHERLANDS

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Brandon Walts

European Bioinformatics Institute

UNITED KINGDOM

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Sarah Hunt

EMBL-European Bioinformatics Institute

UNITED KINGDOM

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Soeren Sten Lienkamp

University Medical Center Freiburg

GERMANY

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Eirik Frengen

Professor

University of Oslo

NORWAY

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Kevin Howe

Head of Analysis-Ready Data

Wellcome Sanger Institute

UNITED KINGDOM

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Sergio Guerrero-Castillo

University Medical Center Hamburg-Eppendorf

GERMANY

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Toby Hunt

European Bioinformatics Institute

UNITED KINGDOM

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Julien Lagarde

Head

SPAIN

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Peter Harrison

Deputy Chief Technology Officer

UNITED KINGDOM

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Jonathan Mudge

European Bioinformatics Institute

UNITED KINGDOM

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Doriana Misceo

Oslo University Hospital

NORWAY

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If Barnes

European Bioinformatics Institute

UNITED KINGDOM

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Andres Veidenberg

European Bioinformatics Institute

UNITED KINGDOM

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Yunzhe Jiang

Yale University

UNITED STATES

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Dulika Sumathipala

Research Interests

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Articles (10)

Ensembl 2023.

GENCODE: reference annotation for the human and mouse genomes in 2023.

A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis

Ensembl 2022.

ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.

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.

A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in <i>DEAF1</i>

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

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

Collaborators (20)

Bethany Flint

Matthew Hardy

Kari-Anne Myrum Frikstad

Zoe Hollis

Elizabeth Wass

Nicole Ingeborg Wolf

Brandon Walts

Sarah Hunt

Soeren Sten Lienkamp

Eirik Frengen

Kevin Howe

Sergio Guerrero-Castillo

Toby Hunt

Julien Lagarde

Peter Harrison

Jonathan Mudge

Doriana Misceo

If Barnes

Andres Veidenberg

Yunzhe Jiang

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