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Neurology|January 4, 2023
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 EncephalopathyEvelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, et al.
JACC. Heart Failure|July 18, 2025
Genetic and Phenotypic Characterization of Nexilin (NEXN)-Related Cardiomyopathy: Results From a Multicentric StudyMaria Perotto, Alessia Paldino, Francesco Mazzarotto, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2025
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndromeSusan Walker, David J Bunyan, Huw B Thomas, et al.
JAMA Cardiology|February 12, 2025
Arrhythmic Risk Stratification of Carriers of Filamin C Truncating Variants, Marta Gigli, Davide Stolfo, et al.
The European Respiratory Journal|June 21, 2022
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasisAmelia Shoemark, Helen Griffin, Gabrielle Wheway, et al.
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