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; Frank McCormick; Scott R. Plotkin; Katherine A. Rauen; Karlyne Reilly; Amy Roberts; Abby Sandler; Dawn Siegel; Karin Walsh; Brigitte C. Widemann

doi:10.1002/ajmg.a.37723

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 LeoniFrank McCormick, Scott R. Plotkin, Katherine A. Rauen, Karlyne Reilly, Amy Roberts, Abby Sandler, Dawn Siegel, Karin Walsh, Brigitte C. Widemann

School of Medicine

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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 language	English (US)
Pages (from-to)	1959-1966
Number of pages	8
Journal	American Journal of Medical Genetics, Part A
Volume	170
Issue number	8
DOIs	https://doi.org/10.1002/ajmg.a.37723
State	Published - Aug 1 2016

Keywords

RASopathy
Ras/MAPK
cancer
clinical trials
experimental models
rare disorders

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.37723

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Stevenson, D. A., Schill, L., Schoyer, L., Andresen, B. S., Bakker, A., Bayrak-Toydemir, P., Burkitt-Wright, E., Chatfield, K., Elefteriou, F., Elgersma, Y., Fisher, M. J., Franz, D., Gelb, B. D., Goriely, A., Gripp, K. W., Hardan, A. Y., Keppler-Noreuil, K. M., Kerr, B., Korf, B., ... 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

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

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

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Keywords

ASJC Scopus subject areas

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