High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome

Leanne de Kock; Yu Chang Wang; Timothee Revil; Dunarel Badescu; Barbara Rivera; Nelly Sabbaghian; Mona Wu; Evan Weber; Claudio Sandoval; Saskia M. J. Hopman; Johannes H. M. Merks; Johanna M. van Hagen; Antonia H. M. Bouts; David A. Plager; Aparna Ramasubramanian; Linus Forsmark; Kristine L. Doyle; Tonja Toler; Janine Callahan; Charlotte Engelenberg; Dorothee Bouron-Dal Soglio; John R. Priest; Jiannis Ragoussis; William D. Foulkes

doi:10.1136/jmedgenet-2015-103428

High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome

Leanne de Kock, Yu Chang Wang, Timothee Revil, Dunarel Badescu, Barbara Rivera, Nelly Sabbaghian, Mona Wu, Evan Weber, Claudio Sandoval, Saskia M. J. Hopman, Johannes H. M. Merks, Johanna M. van Hagen, Antonia H. M. Bouts, David A. Plager, Aparna Ramasubramanian, Linus Forsmark, Kristine L. Doyle, Tonja Toler, Janine Callahan, Charlotte EngelenbergDorothee Bouron-Dal Soglio, John R. Priest, Jiannis Ragoussis, William D. Foulkes

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

Original language	English
Pages (from-to)	43-52
Journal	Journal of Medical Genetics
Volume	53
Issue number	1
DOIs	https://doi.org/10.1136/jmedgenet-2015-103428
Publication status	Published - Jan 2016

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10.1136/jmedgenet-2015-103428

Cite this

de Kock, L., Wang, Y. C., Revil, T., Badescu, D., Rivera, B., Sabbaghian, N., Wu, M., Weber, E., Sandoval, C., Hopman, S. M. J., Merks, J. H. M., van Hagen, J. M., Bouts, A. H. M., Plager, D. A., Ramasubramanian, A., Forsmark, L., Doyle, K. L., Toler, T., Callahan, J., ... Foulkes, W. D. (2016). High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome. Journal of Medical Genetics, 53(1), 43-52. https://doi.org/10.1136/jmedgenet-2015-103428

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title = "High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome",

author = "{de Kock}, Leanne and Wang, {Yu Chang} and Timothee Revil and Dunarel Badescu and Barbara Rivera and Nelly Sabbaghian and Mona Wu and Evan Weber and Claudio Sandoval and Hopman, {Saskia M. J.} and Merks, {Johannes H. M.} and {van Hagen}, {Johanna M.} and Bouts, {Antonia H. M.} and Plager, {David A.} and Aparna Ramasubramanian and Linus Forsmark and Doyle, {Kristine L.} and Tonja Toler and Janine Callahan and Charlotte Engelenberg and {Bouron-Dal Soglio}, Dorothee and Priest, {John R.} and Jiannis Ragoussis and Foulkes, {William D.}",

year = "2016",

month = jan,

doi = "10.1136/jmedgenet-2015-103428",

language = "English",

volume = "53",

pages = "43--52",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "1",

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de Kock, L, Wang, YC, Revil, T, Badescu, D, Rivera, B, Sabbaghian, N, Wu, M, Weber, E, Sandoval, C, Hopman, SMJ, Merks, JHM, van Hagen, JM, Bouts, AHM, Plager, DA, Ramasubramanian, A, Forsmark, L, Doyle, KL, Toler, T, Callahan, J, Engelenberg, C, Bouron-Dal Soglio, D, Priest, JR, Ragoussis, J & Foulkes, WD 2016, 'High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome', Journal of Medical Genetics, vol. 53, no. 1, pp. 43-52. https://doi.org/10.1136/jmedgenet-2015-103428

TY - JOUR

T1 - High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome

AU - de Kock, Leanne

AU - Wang, Yu Chang

AU - Revil, Timothee

AU - Badescu, Dunarel

AU - Rivera, Barbara

AU - Sabbaghian, Nelly

AU - Wu, Mona

AU - Weber, Evan

AU - Sandoval, Claudio

AU - Hopman, Saskia M. J.

AU - Merks, Johannes H. M.

AU - van Hagen, Johanna M.

AU - Bouts, Antonia H. M.

AU - Plager, David A.

AU - Ramasubramanian, Aparna

AU - Forsmark, Linus

AU - Doyle, Kristine L.

AU - Toler, Tonja

AU - Callahan, Janine

AU - Engelenberg, Charlotte

AU - Bouron-Dal Soglio, Dorothee

AU - Priest, John R.

AU - Ragoussis, Jiannis

AU - Foulkes, William D.

PY - 2016/1

Y1 - 2016/1

U2 - 10.1136/jmedgenet-2015-103428

DO - 10.1136/jmedgenet-2015-103428

M3 - Article

C2 - 26475046

VL - 53

SP - 43

EP - 52

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 1

ER -