Genotype-First Analysis of the 16p11.2 Deletion Defines a New Type of "Autism"

被引：13

作者：

Duyzend, Michael H. ^{[1
]}

Eichler, Evan E. ^{[1
,2
]}

机构：

[1] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA

[2] Univ Washington, Sch Med, Howard Hughes Med Inst, Seattle, WA 98195 USA

来源：

BIOLOGICAL PSYCHIATRY | 2015年 / 77卷 / 09期

关键词：

D O I：

10.1016/j.biopsych.2015.02.032

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

引用

页码：769 / 771

页数：3

共 10 条

[1] Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development [J].

Bernier, Raphael ;

Golzio, Christelle ;

Xiong, Bo ;

Stessman, Holly A. ;

Coe, Bradley P. ;

Penn, Osnat ;

Witherspoon, Kali ;

Gerdts, Jennifer ;

Baker, Carl ;

Vulto-van Silfhout, Anneke T. ;

Schuurs-Hoeijmakers, Janneke H. ;

Fichera, Marco ;

Bosco, Paolo ;

Buono, Serafino ;

Alberti, Antonino ;

Failla, Pinella ;

Peeters, Hilde ;

Steyaert, Jean ;

Vissers, Lisenka E. L. M. ;

Francescatto, Ludmila ;

Mefford, Heather C. ;

Rosenfeld, Jill A. ;

Bakken, Trygve ;

O'Roak, Brian J. ;

Pawlus, Matthew ;

Moon, Randall ;

Shendure, Jay ;

Amaral, David G. ;

Lein, Ed ;

Rankin, Julia ;

Romano, Corrado ;

de Vries, Bert B. A. ;

Katsanis, Nicholas ;

Eichler, Evan E. .

CELL, 2014, 158 (02) :263-276

[2] The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population [J].

Hanson, Ellen ;

Bernier, Raphael ;

Porche, Ken ;

Jackson, Frank I. ;

Goin-Kochel, Robin P. ;

Snyder, LeeAnne Green ;

Snow, Anne V. ;

Wallace, Arianne Stevens ;

Campe, Katherine L. ;

Zhang, Yuan ;

Chen, Qixuan ;

D'Angelo, Debra ;

Moreno-De-Luca, Andres ;

Orr, Patrick T. ;

Boomer, K. B. ;

Evans, David W. ;

Kanne, Stephen ;

Berry, Leandra ;

Miller, Fiona K. ;

Olson, Jennifer ;

Sherr, Elliot ;

Martin, Christa L. ;

Ledbetter, David H. ;

Spiro, John E. ;

Chung, Wendy K. .

BIOLOGICAL PSYCHIATRY, 2015, 77 (09) :785-793

[3] Recurrent 16p11.2 microdeletions in autism [J].

Kumar, Ravinesh A. ;

KaraMohamed, Samer ;

Sudi, Jyotsna ;

Conrad, Donald F. ;

Brune, Camille ;

Badner, Judith A. ;

Gilliam, T. Conrad ;

Nowak, Norma J. ;

Cook, Edwin H., Jr. ;

Dobyns, William B. ;

Christian, Susan L. .

HUMAN MOLECULAR GENETICS, 2008, 17 (04) :628-638

[4] Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size [J].

Shinawi, Marwan ;

Liu, Pengfei ;

Kang, Sung-Hae L. ;

Shen, Joseph ;

Belmont, John W. ;

Scott, Daryl A. ;

Probst, Frank J. ;

Craigen, William J. ;

Graham, Brett H. ;

Pursley, Amber ;

Clark, Gary ;

Lee, Jennifer ;

Proud, Monica ;

Stocco, Amber ;

Rodriguez, Diana L. ;

Kozel, Beth A. ;

Sparagana, Steven ;

Roeder, Elizabeth R. ;

McGrew, Susan G. ;

Kurczynski, Thaddeus W. ;

Allison, Leslie J. ;

Amato, Stephen ;

Savage, Sarah ;

Patel, Ankita ;

Stankiewicz, Pawel ;

Beaudet, Arthur L. ;

Cheung, Sau Wai ;

Lupski, James R. .

JOURNAL OF MEDICAL GENETICS, 2010, 47 (05) :332-341

[5] Simons Variation in Individuals Project (Simons VIP): A Genetics-First Approach to Studying Autism Spectrum and Related Neurodevelopmental Disorders [J].

NEURON, 2012, 73 (06) :1063-1067

[6] CNVs conferring risk of autism or schizophrenia affect cognition in controls [J].

Stefansson, Hreinn ;

Meyer-Lindenberg, Andreas ;

Steinberg, Stacy ;

Magnusdottir, Brynja ;

Morgen, Katrin ;

Arnarsdottir, Sunna ;

Bjornsdottir, Gyda ;

BragiWalters, G. ;

Jonsdottir, Gudrun A. ;

Doyle, Orla M. ;

Tost, Heike ;

Grimm, Oliver ;

Kristjansdottir, Solveig ;

Snorrason, Heimir ;

Davidsdottir, Solveig R. ;

Gudmundsson, Larus J. ;

Jonsson, Gudbjorn F. ;

Stefansdottir, Berglind ;

Helgadottir, Isafold ;

Haraldsson, Magnus ;

Jonsdottir, Birna ;

Thygesen, Johan H. ;

Schwarz, Adam J. ;

Didriksen, Michael ;

Stensbol, Tine B. ;

Brammer, Michael ;

Kapur, Shitij ;

Halldorsson, Jonas G. ;

Hreidarsson, Stefan ;

Saemundsen, Evald ;

Sigurdsson, Engilbert ;

Stefansson, Kari .

NATURE, 2014, 505 (7483) :361-+

[7] A Genotype-First Approach to Defining the Subtypes of a Complex Disease [J].

Stessman, Holly A. ;

Bernier, Raphael ;

Eichler, Evan E. .

CELL, 2014, 156 (05) :872-877

[8] Association between microdeletion and microduplication at 16p11.2 and autism [J].

Weiss, Lauren A. ;

Shen, Yiping ;

Korn, Joshua M. ;

Arking, Dan E. ;

Miller, David T. ;

Fossdal, Ragnheidur ;

Saemundsen, Evald ;

Stefansson, Hreinn ;

Ferreira, Manuel A. R. ;

Green, Todd ;

Platt, Orah S. ;

Ruderfer, Douglas M. ;

Walsh, Christopher A. ;

Altshuler, David ;

Chakravarti, Aravinda ;

Tanzi, Rudolph E. ;

Stefansson, Kari ;

Santangelo, Susan L. ;

Gusella, James F. ;

Sklar, Pamela ;

Wu, Bai-Lin ;

Daly, Mark J. .

NEW ENGLAND JOURNAL OF MEDICINE, 2008, 358 (07) :667-675

[9] CEREBRAL ASYMMETRY AND HANDEDNESS [J].

WHITE, LE ;

LUCAS, G ;

RICHARDS, A ;

PURVES, D .

NATURE, 1994, 368 (6468) :197-198

[10] A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders [J].

Zufferey, Flore ;

Sherr, Elliott H. ;

Beckmann, Noam D. ;

Hanson, Ellen ;

Maillard, Anne M. ;

Hippolyte, Loyse ;

Mace, Aurelien ;

Ferrari, Carina ;

Kutalik, Zoltan ;

Andrieux, Joris ;

Aylward, Elizabeth ;

Barker, Mandy ;

Bernier, Raphael ;

Bouquillon, Sonia ;

Conus, Philippe ;

Delobel, Bruno ;

Faucett, WAndrew ;

Goin-Kochel, Robin P. ;

Grant, Ellen ;

Harewood, Louise ;

Hunter, Jill V. ;

Lebon, Sebastien ;

Ledbetter, David H. ;

Martin, Christa Lese ;

Maennik, Katrin ;

Martinet, Danielle ;

Mukherjee, Pratik ;

Ramocki, Melissa B. ;

Spence, Sarah J. ;

Steinman, Kyle J. ;

Tjernagel, Jennifer ;

Spiro, John E. ;

Reymond, Alexandre ;

Beckmann, Jacques S. ;

Chung, Wendy K. ;

Jacquemont, Sebastien .

JOURNAL OF MEDICAL GENETICS, 2012, 49 (10) :660-668

← 1 →