Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

Margaret j. Mcmillin; Anita e. Beck; Jessica x. Chong; Kathryn m. Shively; Kati j. Buckingham; Heidi i.s. Gildersleeve; Mariana i. Aracena; Arthur s. Aylsworth; Pierre Bitoun; John c. Carey; Carol l. Clericuzio; Yanick j. Crow; Cynthia j. Curry; Koenraad Devriendt; David b. Everman; Alan Fryer; Kate Gibson; Maria luisa Giovannucci uzielli; John m. Graham; Judith g. Hall; Jacqueline t. Hecht; Randall a. Heidenreich; Jane a. Hurst; Sarosh Irani; Ingrid p.c. Krapels; Jules g. Leroy; David Mowat; Gordon t. Plant; Stephen p. Robertson; Elizabeth k. Schorry; Richard h. Scott; Laurie h. Seaver; Elliott Sherr; Miranda Splitt; Helen Stewart; Constance Stumpel; Sehime g. Temel; David d. Weaver; Margo Whiteford; Marc s. Williams; Holly k. Tabor; Joshua d. Smith; Jay Shendure; Deborah a. Nickerson; Michael j. Bamshad

doi:10.1016/j.ajhg.2014.03.015

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

Margaret j. Mcmillin, Anita e. Beck, Jessica x. Chong, Kathryn m. Shively, Kati j. Buckingham, Heidi i.s. Gildersleeve, Mariana i. Aracena, Arthur s. Aylsworth, Pierre Bitoun, John c. Carey, Carol l. Clericuzio, Yanick j. Crow, Cynthia j. Curry, Koenraad Devriendt, David b. Everman, Alan Fryer, Kate Gibson, Maria luisa Giovannucci uzielli, John m. Graham, Judith g. HallJacqueline t. Hecht, Randall a. Heidenreich, Jane a. Hurst, Sarosh Irani, Ingrid p.c. Krapels, Jules g. Leroy, David Mowat, Gordon t. Plant, Stephen p. Robertson, Elizabeth k. Schorry, Richard h. Scott, Laurie h. Seaver, Elliott Sherr, Miranda Splitt, Helen Stewart, Constance Stumpel, Sehime g. Temel, David d. Weaver, Margo Whiteford, Marc s. Williams, Holly k. Tabor, Joshua d. Smith, Jay Shendure, Deborah a. Nickerson, Michael j. Bamshad

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

Original language	English
Pages (from-to)	734-744
Journal	American Journal of Human Genetics
Volume	94
Issue number	5
Early online date	10 Apr 2014
DOIs	https://doi.org/10.1016/j.ajhg.2014.03.015
Publication status	Published - 1 May 2014

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10.1016/j.ajhg.2014.03.015

http://linkinghub.elsevier.com/retrieve/pii/S0002929714001177

Cite this

Mcmillin, M., Beck, A., Chong, J., Shively, K., Buckingham, K., Gildersleeve, H. S., Aracena, M., Aylsworth, A., Bitoun, P., Carey, J., Clericuzio, C., Crow, Y., Curry, C., Devriendt, K., Everman, D., Fryer, A., Gibson, K., Giovannucci uzielli, M., Graham, J., ... Bamshad, M. (2014). Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5. American Journal of Human Genetics, 94(5), 734-744. https://doi.org/10.1016/j.ajhg.2014.03.015

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title = "Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5",

author = "Margaret j. Mcmillin and Anita e. Beck and Jessica x. Chong and Kathryn m. Shively and Kati j. Buckingham and Heidi i.s. Gildersleeve and Mariana i. Aracena and Arthur s. Aylsworth and Pierre Bitoun and John c. Carey and Carol l. Clericuzio and Yanick j. Crow and Cynthia j. Curry and Koenraad Devriendt and David b. Everman and Alan Fryer and Kate Gibson and Maria luisa Giovannucci uzielli and John m. Graham and Judith g. Hall and Jacqueline t. Hecht and Randall a. Heidenreich and Jane a. Hurst and Sarosh Irani and Ingrid p.c. Krapels and Jules g. Leroy and David Mowat and Gordon t. Plant and Stephen p. Robertson and Elizabeth k. Schorry and Richard h. Scott and Laurie h. Seaver and Elliott Sherr and Miranda Splitt and Helen Stewart and Constance Stumpel and Sehime g. Temel and David d. Weaver and Margo Whiteford and Marc s. Williams and Holly k. Tabor and Joshua d. Smith and Jay Shendure and Deborah a. Nickerson and Michael j. Bamshad",

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Mcmillin, M, Beck, A, Chong, J, Shively, K, Buckingham, K, Gildersleeve, HS, Aracena, M, Aylsworth, A, Bitoun, P, Carey, J, Clericuzio, C, Crow, Y, Curry, C, Devriendt, K, Everman, D, Fryer, A, Gibson, K, Giovannucci uzielli, M, Graham, J, Hall, J, Hecht, J, Heidenreich, R, Hurst, J, Irani, S, Krapels, IC, Leroy, J, Mowat, D, Plant, G, Robertson, S, Schorry, E, Scott, R, Seaver, L, Sherr, E, Splitt, M, Stewart, H, Stumpel, C, Temel, S, Weaver, D, Whiteford, M, Williams, M, Tabor, H, Smith, J, Shendure, J, Nickerson, D & Bamshad, M 2014, 'Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5', American Journal of Human Genetics, vol. 94, no. 5, pp. 734-744. https://doi.org/10.1016/j.ajhg.2014.03.015

TY - JOUR

T1 - Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

AU - Mcmillin, Margaret j.

AU - Beck, Anita e.

AU - Chong, Jessica x.

AU - Shively, Kathryn m.

AU - Buckingham, Kati j.

AU - Gildersleeve, Heidi i.s.

AU - Aracena, Mariana i.

AU - Aylsworth, Arthur s.

AU - Bitoun, Pierre

AU - Carey, John c.

AU - Clericuzio, Carol l.

AU - Crow, Yanick j.

AU - Curry, Cynthia j.

AU - Devriendt, Koenraad

AU - Everman, David b.

AU - Fryer, Alan

AU - Gibson, Kate

AU - Giovannucci uzielli, Maria luisa

AU - Graham, John m.

AU - Hall, Judith g.

AU - Hecht, Jacqueline t.

AU - Heidenreich, Randall a.

AU - Hurst, Jane a.

AU - Irani, Sarosh

AU - Krapels, Ingrid p.c.

AU - Leroy, Jules g.

AU - Mowat, David

AU - Plant, Gordon t.

AU - Robertson, Stephen p.

AU - Schorry, Elizabeth k.

AU - Scott, Richard h.

AU - Seaver, Laurie h.

AU - Sherr, Elliott

AU - Splitt, Miranda

AU - Stewart, Helen

AU - Stumpel, Constance

AU - Temel, Sehime g.

AU - Weaver, David d.

AU - Whiteford, Margo

AU - Williams, Marc s.

AU - Tabor, Holly k.

AU - Smith, Joshua d.

AU - Shendure, Jay

AU - Nickerson, Deborah a.

AU - Bamshad, Michael j.

PY - 2014/5/1

Y1 - 2014/5/1

U2 - 10.1016/j.ajhg.2014.03.015

DO - 10.1016/j.ajhg.2014.03.015

M3 - Article

SN - 0002-9297

VL - 94

SP - 734

EP - 744

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 5

ER -