The utility of exome sequencing for fetal pleural effusions

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

Sarah S. Kalia, Kathy Adelman, Sherri J. Bale et al. · Genetics in Medicine · 2016 · 1.7K citations · Full text

Secondary Findings, Medicine, American College +9

Mutations in the muscle LIM protein and α-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis

Bhagyalaxmi Mohapatra, Shinawe Jimenez, Jiuann‐Huey Lin et al. · Molecular Genetics and Metabolism · 2003 · 272 citations

Cardiac Muscle, Muscle Physiology, Heart Failure +12

Excitation–contraction uncoupling by a human central core disease mutation in the ryanodine receptor

Guillermo Ávila, Jennifer OʼBrien, Robert T. Dirksen · Proceedings of the National Academy of Sciences · 2001 · 139 citations · Full text

Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test

Agnieszka Brandt · Human Molecular Genetics · 1999 · 129 citations · Full text

Genetics, Pathology, Ryanodine Receptor Gene +17

EPHB4 kinase–inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis

Silvia Martin‐Almedina, Inés Martínez‐Corral, Rita Holdhus et al. · Journal of Clinical Investigation · 2016 · 103 citations · Full text

Immunology, Pathology, Embryology +16