Anne O'Donnell-Luria

71PUBLICATIONS
675CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Evolutionary computationData qualityGene mappingNeurology and neuromuscular diseases
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Publications (71)

|Jul 03, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

|Jun 24, 2026
Automated reanalysis of genomic data for rare disease diagnostics at scale.

|Jun 04, 2026
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.

|May 25, 2026
A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery.

|Apr 27, 2026
Calibration of in-frame indel variant effect predictors for clinical variant classification.

|Apr 20, 2026
De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling.

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Frequent Collaborators

19 joint publications

Daniel G MacArthur

16 joint publications

Konrad J Karczewski

13 joint publications

Jessica Alföldi

12 joint publications

Heidi L Rehm