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Anne O'Donnell-Luria

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Associate Professor

Boston Children's Hospital

United States

Research Interests

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Recent Grants

Grant: Open

Advancing rare disease discovery through technological and methodological approaches using an intuitive platform, seqr

Open Date: 2025-09-08

Close Date: 2029-06-30

Grant: Open

Improving Genetic Diagnosis for African Ancestry Populations

Open Date: 2023-09-20

Close Date: 2028-01-31

Grant: Close

Gene Curation Expert Panel for Syndromic Disorders

Open Date: 2022-08-17

Close Date: 2026-07-31

Grant: Close

Understanding Disparities in Genomic Medicine

Open Date: 2022-07-01

Close Date: 2024-12-31

Grant: Close

Broad Institute Mendelian Genomic Research Center

Open Date: 2021-06-01

Close Date: 2026-03-31

Articles (20)

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Collaborators (24)

Louis Dang

University of Michigan

UNITED STATES

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Lilian Bomme Ousager

Professor

University of Southern Denmark

DENMARK

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Rowena Ng

Kennedy Krieger Institute

UNITED STATES

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Marco Savarese

University of Helsinki

FINLAND

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Nic Robertson

ECAT Clinical Lecturer and Honorary SpR in Paediatrics

University of Edinburgh

UNITED KINGDOM

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Sarah Baer

Chief of resident

Hôpitaux universitaires de Strasbourg

FRANCE

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Elsa Leitão

Universitätsklinikum Essen Institut für Humangenetik

GERMANY

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Nicola Whiffin

Imperial College London

UNITED KINGDOM

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Femke de Vrij

Associate professor

Erasmus University Rotterdam

NETHERLANDS

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Seth Berger

Associate Professor

Children's National Health System

UNITED STATES

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Paul Lockhart

Group Leader

Murdoch Childrens Research Institute

AUSTRALIA

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Florence Petit

Université de Lille

FRANCE

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Dmitriy Sonkin

National Cancer Institute

UNITED STATES

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Mridul Johari

University of Western Australia

AUSTRALIA

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Ruebena Dawes

University of Oxford

UNITED KINGDOM

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Gael Nicolas

PUPH

University of Rouen

FRANCE

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Ingrid Scheffer

Chair of Paediatric Neurology

University of Melbourne

AUSTRALIA

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Bas Lendemeijer

Assistant professor

Erasmus University Rotterdam

NETHERLANDS

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Siddharth Banka

The University of Manchester

UNITED KINGDOM

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Alexander Blakes

Honorary Academic Clinical Fellow

The University of Manchester

UNITED KINGDOM

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Antonio Vitobello

Full professor

Université de Bourgogne

FRANCE

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Charlotte Gaasterland

Senior researcher

Leiden University Medical Center

NETHERLANDS

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Stephan Sanders

Professor of Paediatric Neurogenetics

University of Oxford

UNITED KINGDOM

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Nael Nadif Kasri

Full professor

Radboudumc

NETHERLANDS

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Anne O'Donnell-Luria

Research Interests

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Recent Grants

Articles (20)

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

RNU4ATAC-opathy

International clinical evidence-based guideline for Kleefstra syndrome

Large Class of Neurodevelopmental Disorders Requires Genome Sequencing for Diagnosis

Astrocytes contribute to olanzapine-mediated reversal of kleefstra syndrome-associated neurodevelopmental regression

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Automated reanalysis of genomic data for rare disease diagnostics at scale

Missense variants in TUBA4A cause myo-tubulinopathies

Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.

Utility of Face2Gene's DeepGestalt and D-Score applications in paediatric neurodevelopmental disorders in South Africa.

Experimental and Computational Approaches to Identify Noncoding Pathogenic Variation in Rare Disease.

De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling.

Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations.

Equity-focused implementation to enhance access to rare disease genomic research and understand diverse perspectives

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care.

The Infant and Toddler Developmental Profile of Kleefstra Syndrome.

Neuroimaging Findings in Carbonic Anhydrase VA Deficiency: A Case Series Highlighting Diagnostic and Prognostic Patterns in a Potentially Reversible Mitochondrial Dysfunction.

Delineating the Cognitive Profile of ODLURO Syndrome: Emergent Clues on the Endophenotype Across KMT2 Disorders

Interpreting the functional impact of genetic variants: The need for context qualifiers.

Exploratory analysis of epilepsy biomarkers using untargeted metabolomics across multiple cohorts.

Collaborators (24)

Louis Dang

Lilian Bomme Ousager

Rowena Ng

Marco Savarese

Nic Robertson

Sarah Baer

Elsa Leitão

Nicola Whiffin

Femke de Vrij

Seth Berger

Paul Lockhart

Florence Petit

Dmitriy Sonkin

Mridul Johari

Ruebena Dawes

Gael Nicolas

Ingrid Scheffer

Bas Lendemeijer

Siddharth Banka

Alexander Blakes

Antonio Vitobello

Charlotte Gaasterland

Stephan Sanders

Nael Nadif Kasri

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