Jennifer Posey

63PUBLICATIONS
289CO-AUTHORS
Data qualityNeurogeneticsGenomicsOncology and carcinogenesis not elsewhere classifiedAdolescent health
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Publications (63)

|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

|Dec 19, 2025
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

Wallid Deb, Thomas Besnard, Florence Desprez

|Nov 24, 2025
Enriching for Answers in Rare Diseases.

Yilei Fu, Adam C English, Luis F Paulin

|Nov 24, 2025
Constellation illuminates rare disease genetics.

Siyuan Cheng, Qing Zhang, Xinchang Zheng

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Frequent Collaborators

38 joint publications

James R Lupski

18 joint publications

Dana Marafi

13 joint publications

Daniel G Calame

12 joint publications

Richard A Gibbs