Associated Papers
Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels.
Wilcox EH et al.
Genetics in Medicine Open, 2025
Genomic Contributors to Esophageal Atresia and Tracheoesophageal Fistula: A 12 Year Retrospective Review.
Wild KT et al.
The Journal of Pediatrics, 2024
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
Slavotinek AM et al.
Hgg Advances, 2024
38521975 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_2
The RRAS2 pathogenic variant (c.67G>T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma.
Zeng L et al.
Molecular Genetics & Genomic Medicine, 2024
Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome.
Shao Q et al.
Frontiers in Genetics, 2024
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
Capri Y et al.
American Journal of Human Genetics, 2019
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome.
Niihori T et al.
American Journal of Human Genetics, 2019
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