James R. Lupski

79PUBLICATIONS

604CO-AUTHORS

Data qualityNeurogeneticsCell and nuclear divisionMolecular targetsReaction engineering (excl. nuclear reactions)

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Publications (79)

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|Jun 04, 2026

Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.

|May 18, 2026

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

|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 <i>SLC30A9</i> intragenic deletion and translation reinitiation.

Donato Iacovazzo, Federica Begalli, Oniz Suleyman

|Jan 23, 2026

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

Kevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer

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Frequent Collaborators

38 joint publications

Jennifer Posey

16 joint publications

Daniel G Calame

15 joint publications

Dana Marafi

12 joint publications

Richard A Gibbs

10 joint publications

Claudia M B Carvalho

10 joint publications

Christopher M Grochowski

8 joint publications

Davut Pehlivan