Daniel G Calame

34PUBLICATIONS
237CO-AUTHORS
Molecular targetsAutoimmunityEpigenetics (incl. genome methylation and epigenomics)NeurogeneticsGenomics
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Publications (34)

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

|Apr 10, 2026
PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.

Daniel G Calame, Emma K Wiener, Francesco Gavazzi

|Mar 18, 2026
The Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 Patients.

Katerina Bernardi, Anna Zhou, Kathryn Yang

|Jan 08, 2026
Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families.

Shaghayegh T Beheshti, Angad Jolly, Ahmed K Saad

|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

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Frequent Collaborators

17 joint publications

James R Lupski

13 joint publications

Jennifer Posey

8 joint publications

Dana Marafi

7 joint publications

Isabella Herman