James R. Lupski

81PUBLICATIONS
609CO-AUTHORS
Genome structure and regulationMolecular targetsData qualityNeurogeneticsCell and nuclear division
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Publications (81)

|Sep 16, 2026
De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder.

|Jul 10, 2026
Unveiling the Hidden Rules: Enhancing NMD Prediction for Protein-Truncating Variants.

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

|Apr 08, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Rocio Rius, Alexander J M Blakes, Yuyang Chen

|Mar 23, 2026
Autosomal dominant CDC45 deficiency with allelic expression bias causes a novel genetic disease of the immune system.

Nicole C Guilz, Yong-Oon Ahn, Seungmae Seo

|Mar 18, 2026
Familial medullary thyroid carcinoma secondary to an SLC30A9 intragenic deletion and translation reinitiation.

Donato Iacovazzo, Federica Begalli, Oniz Suleyman

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Frequent Collaborators

38 joint publications

Jennifer Posey

17 joint publications

Daniel G Calame

15 joint publications

Dana Marafi

12 joint publications

Richard A Gibbs