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^*

^*Corresponding author for this work

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

30 Scopus citations

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.

Original language	English
Pages (from-to)	3320-3328.e4
Journal	Cell Reports
Volume	28
Issue number	13
DOIs	https://doi.org/10.1016/j.celrep.2019.08.071
State	Published - 24 Sep 2019
Externally published	Yes

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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, vol. 28, no. 13, pp. 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

Abstract

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