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Heart Failure Clinics|November 15, 2021
Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and ManagementMichele Lioncino, Emanuele Monda, Federica Verrillo, et al.Elife|March 7, 2023
Recessive pathogenic variants in <i>MCAT</i> cause combined oxidative phosphorylation deficiencyBryn D Webb, Sara M Nowinski, Ashley Solmonson, et al.Biorxiv : the Preprint Server for Biology|April 1, 2024
Automated Identification of Germline <i>de novo</i> Mutations in Family Trios: A Consensus-Based Informatic ApproachMariya Shadrina, Özem Kalay, Sinem Demirkaya-Budak, et al.American Journal of Human Genetics|December 17, 2005
Diversity and functional consequences of germline and somatic PTPN11 mutations in human diseaseMarco Tartaglia, Simone Martinelli, Lorenzo Stella, et al.Circulation|December 21, 2018
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart AssociationMary Ella Pierpont, Martina Brueckner, Wendy K Chung, et al.Life Science Alliance|March 28, 2025
Efficient identification of de novo mutations in family trios: a consensus-based informatic approachMariya Shadrina, Özem Kalay, Sinem Demirkaya-Budak, et al.Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology|May 22, 2024
Cardiac genetic test yields and genotype-phenotype correlations from large cohort investigated by medical examiner's officeSarah Saxton, Amy R Kontorovich, Dawei Wang, et al.Journal of the American Heart Association|December 29, 2023
Quantitative Prediction of Right Ventricular Size and Function From the ECGSon Q Duong, Akhil Vaid, Vy Thi Ha My, et al.Nature|December 1, 2006
Decoding the ancient Greek astronomical calculator known as the Antikythera MechanismT Freeth, Y Bitsakis, X Moussas, et al.Nature Genetics|November 13, 2001
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndromeM Tartaglia, E L Mehler, R Goldberg, et al.Pageof 39