Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development

Yuqi Qiu; Thomas Arbogast; Sandra Martin Lorenzo; Hongying Li; Shih C. Tang; Ellen Richardson; Oanh Hong; Shawn Cho; Omar Shanta; Timothy Pang; Christina Corsello; Curtis K. Deutsch; Claire Chevalier; Erica E. Davis; Lilia M. Iakoucheva; Yann Herault; Nicholas Katsanis; Karen Messer; Jonathan Sebat

doi:10.1016/j.celrep.2019.08.071

Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development

Yuqi Qiu
, Thomas Arbogast
, Sandra Martin Lorenzo
, Hongying Li
, Shih C. Tang
, Ellen Richardson
, Oanh Hong
, Shawn Cho
, Omar Shanta
, Timothy Pang
, Christina Corsello
, Curtis K. Deutsch
, Claire Chevalier
, Erica E. Davis
, Lilia M. Iakoucheva
, Yann Herault
, Nicholas Katsanis
, Karen Messer
, Jonathan Sebat^*

^*此作品的通讯作者

University of California at San Diego
Duke University
Université de Strasbourg
CNRS
Institut national de la santé et de la recherche médicale
Rady Children's Hospital
University of Massachusetts Medical School

科研成果: 期刊稿件 › 文章 › 同行评审

33 引用（Scopus）

摘要

Using 3D morphometric imaging, Qiu et al. demonstrate that large copy-number variants (CNVs) of 16p11.2 have significant effects on craniofacial structure that are conserved in humans and model organisms, and they demonstrate that these craniofacial phenotypes are attributable to the dosage effects of multiple genes within the CNV region.

源语言	英语
页（从-至）	3320-3328.e4
期刊	Cell Reports
卷	28
期	13
DOI	https://doi.org/10.1016/j.celrep.2019.08.071
出版状态	已出版 - 24 9月 2019
已对外发布	是

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10.1016/j.celrep.2019.08.071

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Qiu, Y., Arbogast, T., Lorenzo, S. M., Li, H., Tang, S. C., Richardson, E., Hong, O., Cho, S., Shanta, O., Pang, T., Corsello, C., Deutsch, C. K., Chevalier, C., Davis, E. E., Iakoucheva, L. M., Herault, Y., Katsanis, N., Messer, K., & Sebat, J. (2019). Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development. Cell Reports, 28(13), 3320-3328.e4. https://doi.org/10.1016/j.celrep.2019.08.071

@article{9fa6dac4d01148f5a27da0416c3439d2,

title = "Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development",

abstract = "Using 3D morphometric imaging, Qiu et al. demonstrate that large copy-number variants (CNVs) of 16p11.2 have significant effects on craniofacial structure that are conserved in humans and model organisms, and they demonstrate that these craniofacial phenotypes are attributable to the dosage effects of multiple genes within the CNV region.",

author = "Yuqi Qiu and Thomas Arbogast and Lorenzo, \{Sandra Martin\} and Hongying Li and Tang, \{Shih C.\} and Ellen Richardson and Oanh Hong and Shawn Cho and Omar Shanta and Timothy Pang and Christina Corsello and Deutsch, \{Curtis K.\} and Claire Chevalier and Davis, \{Erica E.\} and Iakoucheva, \{Lilia M.\} and Yann Herault and Nicholas Katsanis and Karen Messer and Jonathan Sebat",

note = "Publisher Copyright: {\textcopyright} 2019 The Authors",

year = "2019",

month = sep,

day = "24",

doi = "10.1016/j.celrep.2019.08.071",

language = "英语",

volume = "28",

pages = "3320--3328.e4",

journal = "Cell Reports",

issn = "2639-1856",

publisher = "Elsevier B.V.",

number = "13",

}

Qiu, Y, Arbogast, T, Lorenzo, SM, Li, H, Tang, SC, Richardson, E, Hong, O, Cho, S, Shanta, O, Pang, T, Corsello, C, Deutsch, CK, Chevalier, C, Davis, EE, Iakoucheva, LM, Herault, Y, Katsanis, N, Messer, K & Sebat, J 2019, 'Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development', Cell Reports, 卷 28, 号码 13, 页码 3320-3328.e4. https://doi.org/10.1016/j.celrep.2019.08.071

TY - JOUR

T1 - Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development

AU - Qiu, Yuqi

AU - Arbogast, Thomas

AU - Lorenzo, Sandra Martin

AU - Li, Hongying

AU - Tang, Shih C.

AU - Richardson, Ellen

AU - Hong, Oanh

AU - Cho, Shawn

AU - Shanta, Omar

AU - Pang, Timothy

AU - Corsello, Christina

AU - Deutsch, Curtis K.

AU - Chevalier, Claire

AU - Davis, Erica E.

AU - Iakoucheva, Lilia M.

AU - Herault, Yann

AU - Katsanis, Nicholas

AU - Messer, Karen

AU - Sebat, Jonathan

PY - 2019/9/24

Y1 - 2019/9/24

N2 - Using 3D morphometric imaging, Qiu et al. demonstrate that large copy-number variants (CNVs) of 16p11.2 have significant effects on craniofacial structure that are conserved in humans and model organisms, and they demonstrate that these craniofacial phenotypes are attributable to the dosage effects of multiple genes within the CNV region.

AB - Using 3D morphometric imaging, Qiu et al. demonstrate that large copy-number variants (CNVs) of 16p11.2 have significant effects on craniofacial structure that are conserved in humans and model organisms, and they demonstrate that these craniofacial phenotypes are attributable to the dosage effects of multiple genes within the CNV region.

UR - https://www.scopus.com/pages/publications/85072287011

U2 - 10.1016/j.celrep.2019.08.071

DO - 10.1016/j.celrep.2019.08.071

M3 - 文章

C2 - 31553903

AN - SCOPUS:85072287011

SN - 2639-1856

VL - 28

SP - 3320-3328.e4

JO - Cell Reports

JF - Cell Reports

IS - 13

ER -

Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development

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