Concepedia

Expansion of the RASopathies

William E. Tidyman, Katherine A. Rauen

Current Genetic Medicine Reports · 2016 · 111 citations · 54 references

DOIFull text

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Concepts

References

54

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

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Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Marco Tartaglia, Ernest L. Mehler, Rosalie Goldberg et al. · Nature Genetics · 2001 · 1.7K citations

, , +11

Type 1 Neurofibromatosis Gene: Identification of a Large Transcript Disrupted in Three NF1 Patients

Margaret R. Wallace, Douglas A. Marchuk, Lone B. Andersen et al. · Science · 1990 · 1.5K citations

, , +10

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus

David Viskochil, Arthur M. Buchberg, Gangfeng Xu et al. · Cell · 1990 · 1.1K citations

, , +8

Capillary Malformation–Arteriovenous Malformation, a New Clinical and Genetic Disorder Caused by RASA1 Mutations

Iiro Eerola, Laurence M. Boon, John B. Mulliken et al. · The American Journal of Human Genetics · 2003 · 750 citations · Full text

, , +14