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

DA Stevenson; L Schill; L Schoyer; BS Andresen; Anne Bakker; P Bayrak-Toydemir; E Burkitt-Wright; K Chatfield; F Elefteriou; Ype Elgersma; MJ Fisher; D Franz; BD Gelb; A Goriely; KW Gripp; AY Hardan; KM Keppler-Noreuil; B Kerr; B Korf; C Leoni; F McCormick; SR Plotkin; KA Rauen; K Reilly; A Roberts; A Sandler; D Siegel; K Walsh; BC Widemann

doi:10.1002/ajmg.a.37723

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

DA Stevenson
, L Schill
, L Schoyer
, BS Andresen
, Anne Bakker
, P Bayrak-Toydemir
, E Burkitt-Wright
, K Chatfield
, F Elefteriou
, Ype Elgersma
, MJ Fisher
, D Franz
, BD Gelb
, A Goriely
, KW Gripp
, AY Hardan
, KM Keppler-Noreuil
, B Kerr
, B Korf
, C Leoni

F McCormick, SR Plotkin, KA Rauen, K Reilly, A Roberts, A Sandler, D Siegel, K Walsh, BC Widemann

Neurosciences

Research output: Contribution to journal › Article › Academic › peer-review

26 Citations (Scopus)

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. (c) 2016 Wiley Periodicals, Inc.

Original language	Undefined/Unknown
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
Publication status	Published - 2016

Research programs

EMC ONWAR-01-94-01

Access to Document

10.1002/ajmg.a.37723

http://hdl.handle.net/1765/86134

Cite this

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., ... Widemann, BC. (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

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title = "The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway",

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. (c) 2016 Wiley Periodicals, Inc.",

author = "DA Stevenson and L Schill and L Schoyer and BS Andresen and Anne Bakker and P Bayrak-Toydemir and E Burkitt-Wright and K Chatfield and F Elefteriou and Ype Elgersma and MJ Fisher and D Franz and BD Gelb and A Goriely and KW Gripp and AY Hardan and KM Keppler-Noreuil and B Kerr and B Korf and C Leoni and F McCormick and SR Plotkin and KA Rauen and K Reilly and A Roberts and A Sandler and D Siegel and K Walsh and BC Widemann",

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journal = "American Journal of Medical Genetics Part A",

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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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T1 - The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

AU - Stevenson, DA

AU - Schill, L

AU - Schoyer, L

AU - Andresen, BS

AU - Bakker, Anne

AU - Bayrak-Toydemir, P

AU - Burkitt-Wright, E

AU - Chatfield, K

AU - Elefteriou, F

AU - Elgersma, Ype

AU - Fisher, MJ

AU - Franz, D

AU - Gelb, BD

AU - Goriely, A

AU - Gripp, KW

AU - Hardan, AY

AU - Keppler-Noreuil, KM

AU - Kerr, B

AU - Korf, B

AU - Leoni, C

AU - McCormick, F

AU - Plotkin, SR

AU - Rauen, KA

AU - Reilly, K

AU - Roberts, A

AU - Sandler, A

AU - Siegel, D

AU - Walsh, K

AU - Widemann, BC

PY - 2016

Y1 - 2016

N2 - 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. (c) 2016 Wiley Periodicals, Inc.

AB - 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. (c) 2016 Wiley Periodicals, Inc.

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DO - 10.1002/ajmg.a.37723

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