Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

Yu-Ri Lee; Kamal Khan; Kim Armfield-Uhas; Sujata Srikanth; Nicola A. Thompson; Mercedes Pardo; Lu Yu; Joy W. Norris; Yunhui Peng; Karen W. Gripp; Kirk A. Aleck; Chumei Li; Ed Spence; Tae-Ik Choi; Soo Jeong Kwon; Hee-Moon Park; Daseuli Yu; Won Do Heo; Marie R. Mooney; Shahid M. Baig; Ingrid M. Wentzensen; Aida Telegrafi; Kirsty McWalter; Trevor Moreland; Chelsea Roadhouse; Keri Ramsey; Michael J. Lyons; Cindy Skinner; Emil Alexov; Nicholas Katsanis; Roger E. Stevenson; Jyoti S. Choudhary; David J. Adams; Cheol-Hee Kim; Erica E. Davis; Charles E. Schwartz

doi:10.1038/s41467-020-17452-6

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

Yu-Ri Lee
, Kamal Khan
, Kim Armfield-Uhas
, Sujata Srikanth
, Nicola A. Thompson
, Mercedes Pardo
, Lu Yu
, Joy W. Norris
, Yunhui Peng
, Karen W. Gripp
, Kirk A. Aleck
, Chumei Li
, Ed Spence
, Tae-Ik Choi
, Soo Jeong Kwon
, Hee-Moon Park
, Daseuli Yu
, Won Do Heo
, Marie R. Mooney
, Shahid M. Baig

Ingrid M. Wentzensen, Aida Telegrafi, Kirsty McWalter, Trevor Moreland, Chelsea Roadhouse, Keri Ramsey, Michael J. Lyons, Cindy Skinner, Emil Alexov, Nicholas Katsanis, Roger E. Stevenson, Jyoti S. Choudhary, David J. Adams, Cheol-Hee Kim, Erica E. Davis, Charles E. Schwartz

Biology

Producción científica: Article › revisión exhaustiva

Idioma original	English
Publicación	Nature Communications
Volumen	11
N.º	1
DOI	https://doi.org/10.1038/s41467-020-17452-6
Estado	Published - 2020

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10.1038/s41467-020-17452-6

https://www.nature.com/articles/s41467-020-17452-6

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Lee, Y.-R., Khan, K., Armfield-Uhas, K., Srikanth, S., Thompson, N. A., Pardo, M., Yu, L., Norris, J. W., Peng, Y., Gripp, K. W., Aleck, K. A., Li, C., Spence, E., Choi, T.-I., Kwon, S. J., Park, H.-M., Yu, D., Heo, W. D., Mooney, M. R., ... Schwartz, C. E. (2020). Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. Nature Communications, 11(1). https://doi.org/10.1038/s41467-020-17452-6

Lee, Y-R, Khan, K, Armfield-Uhas, K, Srikanth, S, Thompson, NA, Pardo, M, Yu, L, Norris, JW, Peng, Y, Gripp, KW, Aleck, KA, Li, C, Spence, E, Choi, T-I, Kwon, SJ, Park, H-M, Yu, D, Heo, WD, Mooney, MR, Baig, SM, Wentzensen, IM, Telegrafi, A, McWalter, K, Moreland, T, Roadhouse, C, Ramsey, K, Lyons, MJ, Skinner, C, Alexov, E, Katsanis, N, Stevenson, RE, Choudhary, JS, Adams, DJ, Kim, C-H, Davis, EE & Schwartz, CE 2020, 'Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy', Nature Communications, vol. 11, n.º 1. https://doi.org/10.1038/s41467-020-17452-6

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title = "Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy",

author = "Yu-Ri Lee and Kamal Khan and Kim Armfield-Uhas and Sujata Srikanth and Thompson, \{Nicola A.\} and Mercedes Pardo and Lu Yu and Norris, \{Joy W.\} and Yunhui Peng and Gripp, \{Karen W.\} and Aleck, \{Kirk A.\} and Chumei Li and Ed Spence and Tae-Ik Choi and Kwon, \{Soo Jeong\} and Hee-Moon Park and Daseuli Yu and Heo, \{Won Do\} and Mooney, \{Marie R.\} and Baig, \{Shahid M.\} and Wentzensen, \{Ingrid M.\} and Aida Telegrafi and Kirsty McWalter and Trevor Moreland and Chelsea Roadhouse and Keri Ramsey and Lyons, \{Michael J.\} and Cindy Skinner and Emil Alexov and Nicholas Katsanis and Stevenson, \{Roger E.\} and Choudhary, \{Jyoti S.\} and Adams, \{David J.\} and Cheol-Hee Kim and Davis, \{Erica E.\} and Schwartz, \{Charles E.\}",

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doi = "10.1038/s41467-020-17452-6",

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T1 - Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

AU - Lee, Yu-Ri

AU - Khan, Kamal

AU - Armfield-Uhas, Kim

AU - Srikanth, Sujata

AU - Thompson, Nicola A.

AU - Pardo, Mercedes

AU - Yu, Lu

AU - Norris, Joy W.

AU - Peng, Yunhui

AU - Gripp, Karen W.

AU - Aleck, Kirk A.

AU - Li, Chumei

AU - Spence, Ed

AU - Choi, Tae-Ik

AU - Kwon, Soo Jeong

AU - Park, Hee-Moon

AU - Yu, Daseuli

AU - Heo, Won Do

AU - Mooney, Marie R.

AU - Baig, Shahid M.

AU - Wentzensen, Ingrid M.

AU - Telegrafi, Aida

AU - McWalter, Kirsty

AU - Moreland, Trevor

AU - Roadhouse, Chelsea

AU - Ramsey, Keri

AU - Lyons, Michael J.

AU - Skinner, Cindy

AU - Alexov, Emil

AU - Katsanis, Nicholas

AU - Stevenson, Roger E.

AU - Choudhary, Jyoti S.

AU - Adams, David J.

AU - Kim, Cheol-Hee

AU - Davis, Erica E.

AU - Schwartz, Charles E.

PY - 2020

Y1 - 2020

U2 - 10.1038/s41467-020-17452-6

DO - 10.1038/s41467-020-17452-6

M3 - Article

VL - 11

JO - Nature Communications

JF - Nature Communications

IS - 1

ER -