The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

被引：512

作者：

Fischbach, Gerald D. ^{[1
]}

Lord, Catherine ^{[2
]}

机构：

[1] Simons Fdn Autism Res Initiat, New York, NY 10010 USA

[2] Univ Michigan, Dept Psychol Pediat & Psychiat, Ann Arbor, MI 48109 USA

来源：

NEURON | 2010年 / 68卷 / 02期

关键词：

NEUROPSYCHIATRIC CONDITIONS; SPECTRUM; DISORDERS;

D O I：

10.1016/j.neuron.2010.10.006

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

In an effort to identify de novo genetic variants that contribute to the overall risk of autism, the Simons Foundation Autism Research Initiative (SFARI) has gathered a unique sample called the Simons Simplex Collection (SSC). More than 2000 families have been evaluated to date. On average, probands in the current sample exhibit moderate to severe autistic symptoms with relatively little intellectual disability. An interactive database has been created to facilitate correlations between clinical, genetic, and neurobiological data.

引用

页码：192 / 195

页数：4

共 10 条

[1] Advances in autism genetics: on the threshold of a new neurobiology [J].

Abrahams, Brett S. ;

Geschwind, Daniel H. .

NATURE REVIEWS GENETICS, 2008, 9 (05) :341-355

[2] Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder [J].

Christian, Susan L. ;

Brune, Camille W. ;

Sudi, Jyotsna ;

Kumar, Ravinesh A. ;

Liu, Shaung ;

Karamohamed, Samer ;

Badner, Judith A. ;

Matsui, Seiichi ;

Conroy, Jeffrey ;

McQuaid, Devin ;

Gergel, James ;

Hatchwell, Eli ;

Gilliam, T. Conrad ;

Gershon, Elliot S. ;

Nowak, Norma J. ;

Dobyns, William B. ;

Cook, Edwin H., Jr. .

BIOLOGICAL PSYCHIATRY, 2008, 63 (12) :1111-1117

[3] Copy-number variations associated with neuropsychiatric conditions [J].

Cook, Edwin H., Jr. ;

Scherer, Stephen W. .

NATURE, 2008, 455 (7215) :919-923

[4] The Autism Genetic Resource Exchange: A resource for the study of autism and related neuropsychiatric conditions [J].

Geschwind, DH ;

Sowinski, J ;

Lord, C ;

Iversen, P ;

Shestack, J ;

Jones, P ;

Ducat, L ;

Spence, SJ .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (02) :463-466

[5] Standardizing ADOS Scores for a Measure of Severity in Autism Spectrum Disorders [J].

Gotham, Katherine ;

Pickles, Andrew ;

Lord, Catherine .

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 2009, 39 (05) :693-705

[6] Using global unique identifiers to link autism collections [J].

Johnson, Stephen B. ;

Whitney, Glen ;

McAuliffe, Matthew ;

Wang, Hailong ;

McCreedy, Evan ;

Rozenblit, Leon ;

Evans, Clark C. .

JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION, 2010, 17 (06) :689-695

[7] The Autism Diagnostic Observation Schedule-Generic: A standard measure of social and communication deficits associated with the spectrum of autism [J].

Lord, C ;

Risi, S ;

Lambrecht, L ;

Cook, EH ;

Leventhal, BL ;

DiLavore, PC ;

Pickles, A ;

Rutter, M .

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 2000, 30 (03) :205-223

[8] AUTISM DIAGNOSTIC INTERVIEW-REVISED - A REVISED VERSION OF A DIAGNOSTIC INTERVIEW FOR CAREGIVERS OF INDIVIDUALS WITH POSSIBLE PERVASIVE DEVELOPMENTAL DISORDERS [J].

LORD, C ;

RUTTER, M ;

LECOUTEUR, A .

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 1994, 24 (05) :659-685

[9] Strong association of de novo copy number mutations with autism [J].

Sebat, Jonathan ;

Lakshmi, B. ;

Malhotra, Dheeraj ;

Troge, Jennifer ;

Lese-Martin, Christa ;

Walsh, Tom ;

Yamrom, Boris ;

Yoon, Seungtai ;

Krasnitz, Alex ;

Kendall, Jude ;

Leotta, Anthony ;

Pai, Deepa ;

Zhang, Ray ;

Lee, Yoon-Ha ;

Hicks, James ;

Spence, Sarah J. ;

Lee, Annette T. ;

Puura, Kaija ;

Lehtimaeki, Terho ;

Ledbetter, David ;

Gregersen, Peter K. ;

Bregman, Joel ;

Sutcliffe, James S. ;

Jobanputra, Vaidehi ;

Chung, Wendy ;

Warburton, Dorothy ;

King, Mary-Claire ;

Skuse, David ;

Geschwind, Daniel H. ;

Gilliam, T. Conrad ;

Ye, Kenny ;

Wigler, Michael .

SCIENCE, 2007, 316 (5823) :445-449

[10] 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

← 1 →