John Garcia

6PUBLICATIONS
52CO-AUTHORS
Neurology and neuromuscular diseasesMolecular targetsCancer geneticsAutonomic nervous systemQuery processing and optimisation
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Publications (6)

|Feb 19, 2025
Analysis of TTN Truncating Variants in >74 000 Cases Reveals New Clinically Relevant Gene Regions.

Matteo Vatta, Ellen Regalado, Michael Parfenov

|Jun 22, 2022
SDHx mutations and temozolomide in malignant pheochromocytoma and paraganglioma.

Kimberly Perez, Heather Jacene, Jason L Hornick

|Jan 07, 2022
Clinical Implications of Pathogenic Germline Variants in Small Intestine Neuroendocrine Tumors (SI-NETs).

Kimberly Perez, Matthew H Kulke, Anu Chittenden

|Sep 24, 2021
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.

Roddy Walsh, Arnon Adler, Ahmad S Amin

|Oct 13, 2018
ClinVar database of global familial hypercholesterolemia-associated DNA variants.

Michael A Iacocca, Joana R Chora, Alain Carrié

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