Anne O’Donnell‐Luria

Career Trajectory

Research Cluster Map

Direct collaborators. Node size = influence, colour = community, dashed = past collaboration.

• Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing

  medRxiv · 2026-06-24

• Automated reanalysis of genomic data for rare disease diagnostics at scale

  Nature Medicine · 2026-06-24

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

  Genetics in Medicine · 2025-12-17

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

  The American Journal of Human Genetics · 2025-12-01 · 3 citations

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

  Frontiers in Neurology · 2025-12-01 · 1 citations

• Session Introduction: Precision Medicine: Integrating Large-Scale Data and Intermediate Phenotypes for Understanding Health and Treating Disease

  2025-12-01

• Large Class of Neurodevelopmental Disorders Requires Genome Sequencing for Diagnosis

  Annals of Neurology · 2025-11-19

• Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditionsPreprint

  medRxiv · 2025-11-13 · 3 citations

• GREGoR: accelerating genomics for rare diseasesPreprint

  Nature · 2025-11-12 · 14 citations

• GENETIC RE-EVALUATION OF SDS-LIKE AND NEUTROPENIA CONDITIONS

  EJC Paediatric Oncology · 2025-11-05

• Towards Characterizing the Developmental and Behavioral Profiles of <scp>ODLURO</scp> Syndrome: Shared Features With Wiedemann–Steiner Syndrome and Kabuki Syndrome

  Clinical Genetics · 2025-10-25

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

  American Journal of Neuroradiology · 2025-09-29

• Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

  The American Journal of Human Genetics · 2025-09-19 · 16 citations

• Biallelic variants in the non-coding RNA gene <i>RNU4-2</i> cause a recessive neurodevelopmental syndrome with distinct white matter changesPreprint

  medRxiv · 2025-08-16 · 5 citations

• Academic Learning Profiles Across Disorders of <i>KMT2</i> Gene Family: Superimposed and Distinct Features Across Kabuki, Wiedemann–Steiner and ODLURO Syndromes

  Journal of Intellectual Disability Research · 2025-08-05

• Search for a genetic cause of variably protease-sensitive prionopathy

  PLoS Pathogens · 2025-08-01 · 2 citations

• Expectations for papers performing Mendelian randomization analyses

  PLoS Genetics · 2025-07-17 · 4 citations

• <i>AP2M1</i> Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

  American Journal of Medical Genetics Part A · 2025-07-09 · 1 citations

• Delineating the Cognitive Profile of <scp>ODLURO</scp> Syndrome: Emergent Clues on the Endophenotype Across <scp>KMT2</scp> Disorders

  American Journal of Medical Genetics Part A · 2025-07-05

• Missense variants in <i>TUBA4A</i> cause myo-tubulinopathiesPreprint

  medRxiv · 2025-06-28 · 2 citations