(Q28943508)

14 March 2017

title

A genome-wide scan for common alleles affecting risk for autism (English)

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14 March 2017

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Richard Anney

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Richard

Anney

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Lambertus Klei

Lambertus

Klei

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Dalila Pinto

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Regina Regan

Regina

Regan

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Judith Conroy

Judith

Conroy

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Catarina Correia

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Catarina

Correia

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Nuala Sykes

Nuala

Sykes

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Alistair T Pagnamenta

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Alistair T. Pagnamenta

author given names

Alistair T.

author last names

Pagnamenta

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Elena Bacchelli

Elena

Bacchelli

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Gillian Baird

Gillian

Baird

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Agatino Battaglia

Agatino

Battaglia

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Tom Berney

Tom

Berney

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Nadia Bolshakova

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Nadia

Bolshakova

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Sven Bölte

Sven

Bölte

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Thomas Bourgeron

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Thomas

Bourgeron

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Jessica Brian

Jessica

Brian

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Andrew Carson-Stevens

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Andrew R. Carson

Andrew R.

Carson

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Guillermo Casallo

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Jillian Casey

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Christina Corsello

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Andrew Crossett

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Geraldine Dawson

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Richard Delorme

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Irene Drmic

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Irene Drmic

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Eftichia Duketis

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Frederico Duque

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Annette Estes

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Annette Estes

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Penny Farrar

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Bridget A. Fernandez

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Susan E. Folstein

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Eric Fombonne

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Christine M Freitag

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Christine M. Freitag

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Christopher Gillberg

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Joseph T. Glessner

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ORCID Public Data File 2021

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Jonathan Green

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Hakon Hakonarson

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Elizabeth A Heron

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Elizabeth A. Heron

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Matthew Hill

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Vanessa Hus Bal

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Vanessa Hus

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Roberta Igliozzi

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Sabine M. Klauck

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Janine A. Lamb

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Olena Korvatska

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Vlad Kustanovich

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Clara M. Lajonchere

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Magdalena Laskawiec

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Marion Leboyer

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Ann Le Couteur

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Ann Le Couteur

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Bennett L. Leventhal

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Anath C. Lionel

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Xiao-Qing Liu

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Catherine Lord

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Catherine Lord

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Linda Lotspeich

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Sabata C. Lund

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Elena Maestrini

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Carine Mantoulan

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Christian R. Marshall

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Helen McConachie

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Christopher J McDougle

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Christopher J. McDougle

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Jane McGrath

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Nadine M Melhem

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Nadine M. Melhem

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Alison Merikangas

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Ohsuke Migita

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Ghazala K. Mirza

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Jeff Munson

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Stanley F. Nelson

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Gudrun Nygren

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Guiomar Oliveira

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Katerina Papanikolaou

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Katerina Papanikolaou

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Jeremy R. Parr

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Barbara Parrini

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Tara Paton

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Andrew Pickles

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Joseph Piven

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Joseph Piven

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Annemarie Poustka

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Fritz Poustka

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Aparna Prasad

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Jiannis Ragoussis

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Katy Renshaw

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Katy Renshaw

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Jessica Rickaby

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Wendy Roberts

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Kathryn Roeder

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Michael Rutter

Michael L. Rutter

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Laura J. Bierut

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Laura J. Bierut

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Jeff Salt

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Katherine Sansom

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Ricardo Segurado

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Lili Senman

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Lili Senman

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Naisha Shah

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Val C. Sheffield

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Latha Soorya

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Vera Stoppioni

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Christina Strawbridge

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Christina Strawbridge

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Raffaella Tancredi

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Bhooma Thiruvahindrapduram

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Katherine Tansey

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Bhooma Thiruvahindrapduram

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Susanne Thomson

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Ana Tryfon

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John Tsiantis

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Fred Volkmar

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Simon Wallace

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Kai Wang

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Zhouzhi Wang

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Thomas H. Wassink

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Kirsty Wing

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Brian L. Yaspan

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Brian L. Yaspan

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Danielle Zurawiecki

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Lonnie Zwaigenbaum

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Catalina Betancur

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Catalina Betancur

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Joseph Buxbaum

Joseph D. Buxbaum

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Rita M. Cantor

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Rita M. Cantor

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Edwin H. Cook

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Hilary Coon

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Michael L. Cuccaro

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Louise Gallagher

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Daniel Geschwind

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Daniel H. Geschwind

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Michael Gill

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Jonathan L Haines

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Jonathan L. Haines

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Anthony P. Monaco

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John I. Nurnberger

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John I. Nurnberger

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Margaret A. Pericak-Vance

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Andrew D. Paterson

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Margaret A. Pericak-Vance

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Gerard D Schellenberg

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Gerard D. Schellenberg

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Stephen W. Scherer

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James S. Sutcliffe

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Peter Szatmari

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Astrid M. Vicente

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Veronica J Vieland

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Veronica J. Vieland

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Ellen M. Wijsman

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Bernie Devlin

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Bernie Devlin

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Sean Ennis

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Joachim Hallmayer

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Joachim Hallmayer

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William M. McMahon

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John B. Vincent

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Maretha de Jonge

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Stephen J. Guter

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John P. Rice

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Inês Sousa

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David J. Posey

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Tiago R. Magalhaes

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Brett S. Abrahams

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Joana Almeida

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Anthony J. Bailey

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Patrick F. Bolton

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Sean Brennan

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Su H. Chu

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Lynne Cochrane

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Emily L. Crawford

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John Gilbert

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Jeremy Goldberg

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Richard Holt

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Jennifer L. Howe

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Gillian Hughes

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Cecilia Kim

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Alexander Kolevzon

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William Mahoney

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Nancy J. Minshew

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Carolyn Noakes

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Abdul Noor

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Bernadette Roge

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Daisuke Sato

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Ann P. Thompson

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Herman Van Engeland

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Kerstin Wittemeyer

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Shawn Wood

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Judith Miller

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14 March 2017

publication date

15 October 2010

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14 March 2017

published in

Human Molecular Genetics

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14 March 2017

volume

19

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14 March 2017

issue

20

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14 March 2017

page(s)

4072–4082

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Using ancestry matching to combine family-based and unrelated samples for genome-wide association studies

14 March 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Functional impact of global rare copy number variation in autism spectrum disorders

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Prevalence of autism-spectrum conditions: UK school-based population study

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

A genome-wide association study of autism reveals a common novel risk locus at 5p14.1

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Common genetic variants on 5p14.1 associate with autism spectrum disorders

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Epidemiology of Pervasive Developmental Disorders

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Copy-number variations associated with neuropsychiatric conditions

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Learning-associated regulation of polysialylated neural cell adhesion molecule expression in the rat prefrontal cortex is region-, cell type- and paradigm-specific

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Genome-wide linkage analyses of quantitative and categorical autism subphenotypes

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Advances in autism genetics: on the threshold of a new neurobiology

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Structural variation of chromosomes in autism spectrum disorder

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Association between microdeletion and microduplication at 16p11.2 and autism

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Strong association of de novo copy number mutations with autism

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

PTEN represses RNA Polymerase I transcription by disrupting the SL1 complex

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Intergenerational transmission of subthreshold autistic traits in the general population

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Autism as a strongly genetic disorder: evidence from a British twin study

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

A genome-wide association study of alcohol dependence

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Genome-wide association studies of MRI-defined brain infarcts: meta-analysis from the CHARGE Consortium

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

A genome-wide linkage and association scan reveals novel loci for autism

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Correcting "winner's curse" in odds ratios from genomewide association findings for major complex human diseases.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Phospholipase D signalling and its involvement in neurite outgrowth

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Genetic architecture of transcript-level variation in humans

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Recurrent 16p11.2 microdeletions in autism

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Regulation of metabotropic glutamate receptor signaling, desensitization and endocytosis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Association between polymorphisms in the promoter region of the sialyltransferase 8B (SIAT8B) gene and schizophrenia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Large upward bias in estimation of locus-specific effects from genomewide scans

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

PTEN mutation in a family with Cowden syndrome and autism

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Divergent impact of the polysialyltransferases ST8SiaII and ST8SiaIV on polysialic acid expression in immature neurons and interneurons of the adult cerebral cortex.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Autism spectrum disorder diagnoses in Stockholm preschoolers

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Discovering genetic ancestry using spectral graph theory

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Imbalance of neural cell adhesion molecule and polysialyltransferase alleles causes defective brain connectivity.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

The broad autism phenotype questionnaire.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Positive association between SIAT8B and schizophrenia in the Chinese Han population

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Combining information from multiple sources in the diagnosis of autism spectrum disorders.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Reduction of selection bias in genomewide studies by resampling.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

Case/pseudocontrol analysis in genetic association studies: A unified framework for detection of genotype and haplotype associations, gene-gene and gene-environment interactions, and parent-of-origin effects.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947401

26 November 2018

Identifiers

DOI

10.1093/HMG/DDQ307

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1 reference

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