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Last Posted: May 10, 2023

• Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome.
  Pritesh Jain et al. Transl Psychiatry 2023 13(1) 69
• Pompe disease ascertained through The Lantern Project, 2018-2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis.
  Lisa Sniderman King et al. Mol Genet Metab 139(1) 107565
• Symptoms and ECG changes precede sudden cardiac death in hypertrophic cardiomyopathy-A nationwide study among the young in Sweden.
  Börjesson Erik et al. PloS one 2022 17(9) e0273567
• Evaluating atrial fibrillation artificial intelligence for the emergency department, statistical and clinical implications.
  Kaminski Ann E et al. The American journal of emergency medicine 2022 5798-102
• Gender Related Differences in the Clinical Presentation of Hypertrophic Cardiomyopathy-An Analysis from the SILICOFCM Database.
  Preveden Andrej et al. Medicina (Kaunas, Lithuania) 2022 58(2)
• Ajmaline Testing and the Brugada Syndrome.
  Rizzo Alessandro et al. The American journal of cardiology 2020 Aug
• Pheochromocytoma Due to TMEM127 Mutation - The Importance of Genetic Testing for Clinical Decision.
  Paredes Sílvia Cristina de Sousa et al. European endocrinology 2020 Apr 16(1) 72-74
• The challenges of diagnosis and management of Gitelman syndrome.
  Urwin Stephanie et al. Clinical endocrinology 2019 Oct
• Long QT Syndrome: Genetics and Future Perspective.
  Wallace Eimear et al. Pediatric cardiology 2019 Aug
• Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma.
  Muth A et al. Journal of internal medicine 2018 Dec

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