The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

David A. Stevenson, Lisa Schill, Lisa Schoyer, Brage S. Andresen, Annette Bakker, Pinar Bayrak-Toydemir, Emma Burkitt-Wright, Kathryn Chatfield, Florent Elefteriou, Ype Elgersma, Michael J. Fisher, David Franz, Bruce D. Gelb, Anne Goriely, Karen W. Gripp, Antonio Y. Hardan, Kim M. Keppler-Noreuil, Bronwyn Kerr, Bruce Korf, Chiara Leoni & 9 others Frank McCormick, Scott R. Plotkin, Katherine A. Rauen, Karlyne Reilly, Amy Roberts, Abby Sandler, Dawn Siegel, Karin Walsh, Brigitte C. Widemann

Research output: Contribution to journalArticle

Abstract

The RASopathies are a group of disorders due to variations of genes associated with the Ras/MAPK pathway. Some of the RASopathies include neurofibromatosis type 1 (NF1), Noonan syndrome, Noonan syndrome with multiple lentigines, cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, and capillary malformation–arteriovenous malformation (CM-AVM) syndrome. In combination, the RASopathies are a frequent group of genetic disorders. This report summarizes the proceedings of the 4th International Symposium on Genetic Disorders of the Ras/MAPK pathway and highlights gaps in the field.

Original languageEnglish (US)
Pages (from-to)1959-1966
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume170
Issue number8
DOIs
StatePublished - Aug 1 2016
Externally publishedYes

Fingerprint

LEOPARD Syndrome
Inborn Genetic Diseases
Costello Syndrome
Neurofibromatosis 1
Genes

Keywords

  • cancer
  • clinical trials
  • experimental models
  • rare disorders
  • Ras/MAPK
  • RASopathy

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Stevenson, D. A., Schill, L., Schoyer, L., Andresen, B. S., Bakker, A., Bayrak-Toydemir, P., ... Widemann, B. C. (2016). The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway. American Journal of Medical Genetics, Part A, 170(8), 1959-1966. https://doi.org/10.1002/ajmg.a.37723

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway. / Stevenson, David A.; Schill, Lisa; Schoyer, Lisa; Andresen, Brage S.; Bakker, Annette; Bayrak-Toydemir, Pinar; Burkitt-Wright, Emma; Chatfield, Kathryn; Elefteriou, Florent; Elgersma, Ype; Fisher, Michael J.; Franz, David; Gelb, Bruce D.; Goriely, Anne; Gripp, Karen W.; Hardan, Antonio Y.; Keppler-Noreuil, Kim M.; Kerr, Bronwyn; Korf, Bruce; Leoni, Chiara; McCormick, Frank; Plotkin, Scott R.; Rauen, Katherine A.; Reilly, Karlyne; Roberts, Amy; Sandler, Abby; Siegel, Dawn; Walsh, Karin; Widemann, Brigitte C.

In: American Journal of Medical Genetics, Part A, Vol. 170, No. 8, 01.08.2016, p. 1959-1966.

Research output: Contribution to journalArticle

Stevenson, DA, Schill, L, Schoyer, L, Andresen, BS, Bakker, A, Bayrak-Toydemir, P, Burkitt-Wright, E, Chatfield, K, Elefteriou, F, Elgersma, Y, Fisher, MJ, Franz, D, Gelb, BD, Goriely, A, Gripp, KW, Hardan, AY, Keppler-Noreuil, KM, Kerr, B, Korf, B, Leoni, C, McCormick, F, Plotkin, SR, Rauen, KA, Reilly, K, Roberts, A, Sandler, A, Siegel, D, Walsh, K & Widemann, BC 2016, 'The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway', American Journal of Medical Genetics, Part A, vol. 170, no. 8, pp. 1959-1966. https://doi.org/10.1002/ajmg.a.37723
Stevenson DA, Schill L, Schoyer L, Andresen BS, Bakker A, Bayrak-Toydemir P et al. The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway. American Journal of Medical Genetics, Part A. 2016 Aug 1;170(8):1959-1966. https://doi.org/10.1002/ajmg.a.37723
Stevenson, David A. ; Schill, Lisa ; Schoyer, Lisa ; Andresen, Brage S. ; Bakker, Annette ; Bayrak-Toydemir, Pinar ; Burkitt-Wright, Emma ; Chatfield, Kathryn ; Elefteriou, Florent ; Elgersma, Ype ; Fisher, Michael J. ; Franz, David ; Gelb, Bruce D. ; Goriely, Anne ; Gripp, Karen W. ; Hardan, Antonio Y. ; Keppler-Noreuil, Kim M. ; Kerr, Bronwyn ; Korf, Bruce ; Leoni, Chiara ; McCormick, Frank ; Plotkin, Scott R. ; Rauen, Katherine A. ; Reilly, Karlyne ; Roberts, Amy ; Sandler, Abby ; Siegel, Dawn ; Walsh, Karin ; Widemann, Brigitte C. / The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway. In: American Journal of Medical Genetics, Part A. 2016 ; Vol. 170, No. 8. pp. 1959-1966.
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