Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment. | ORKG Ask

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High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility

Maestrini, E.
Pagnamenta, A. T.
Lamb, J. A.
Bacchelli, E.
Sykes, N. H.
Sousa, I.
Toma, C.
Barnby, G.
Butler, H.
Winchester, L.
Scerri, T. S.
Minopoli, F.
Reichert, J.
Cai, G.
Buxbaum, J. D.
Korvatska, O.
Schellenberg, G. D.
Dawson, G.
de Bildt, A.
Minderaa, R. B.
Mulder, E. J.
Morris, A. P.
Bailey, A. J.
Monaco, A. P.

September 2010

Autism spectrum disorders are a group of highly heritable neurodevelopmental disorders with a comple...

Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment.

Newbury, D.F.
Warburton, P.C.
Wilson, N.
Bacchelli, E.
Carone, S.
International Molecular Genetic Study of Autism Consortium
Lamb, J.A.
Maestrini, E.
Monaco, A.P.
Volpi, E.
Newbury, D.F.
Warburton, P.C.
Wilson, N.
Bacchelli, E.
Carone, S.
International Molecular Genetic Study of Autism Consortium
Lamb, J.A.
Maestrini, E.
Monaco, A.P.
Volpi, E.

January 2009

Autism is a neurodevelopmental disorder characterized by deficits in reciprocal social interaction a...

Presence of large deletions in kindreds with autism.

Yu, Chang-En
Dawson, Geraldine
Munson, Jeffrey
D'Souza, Ian
Osterling, Julie
Estes, Annette
Leutenegger, Anne-Louise
Flodman, Pamela
Smith, Moyra
Raskind, Wendy H
Spence, M Anne
McMahon, William
Wijsman, Ellen M
Schellenberg, Gerard D

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Autism is caused, in part, by inheritance of multiple interacting susceptibility alleles. To identif...

Presence of Large Deletions in Kindreds with Autism

Yu, Chang-En
Dawson, Geraldine
Munson, Jeffrey
D’Souza, Ian
Osterling, Julie
Estes, Annette
Leutenegger, Anne-Louise
Flodman, Pamela
Smith, Moyra
Raskind, Wendy H.
Spence, M. Anne
McMahon, William
Wijsman, Ellen M.
Schellenberg, Gerard D.

July 2002

Autism is caused, in part, by inheritance of multiple interacting susceptibility alleles. To identif...

Identifying autism loci and genes by tracing recent shared ancestry

Eric M. Morrow
Seung-yun Yoo
Steven W. Flavell
Tae-kyung Kim
Yingxi Lin
Robert Sean Hill
Nahit M. Mukaddes
Soher Balkhy
Generoso Gascon
Asif Hashmi
Samira Al-saad
Janice Ware
Robert M. Joseph
Rachel Greenblatt
Danielle Gleason
Julia A. Ertelt
Kira A. Apse
Adria Bodell
Jennifer N. Partlow
Brenda Barry
Hui Yao
Kyriacos Markianos
Russell J. Ferl
Michael E. Greenberg
Christopher A. Walsh

January 2008

To find inherited causes of autism-spectrum disorders, we studied families in which parents share an...

De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder

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Summary: Whole-exome sequencing (WES) studies have demonstrated the contribution of de novo loss-of-...

Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders

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Most genetic studies consider autism spectrum disorder (ASD) and developmental disorder (DD) separat...

A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium.

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Autism is characterized by impairments in reciprocal social interaction and communication, and restr...

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Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families)...

De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder

October 2014

SummaryWhole-exome sequencing (WES) studies have demonstrated the contribution of de novo loss-of-fu...

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

September 2015

SummaryAnalysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 fa...

A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium

January 1998

Autism is characterized by impairments in reciprocal social interaction and communication, and restr...

High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility

Maestrini, E.
Pagnamenta, A. T.
Lamb, J. A.
Bacchelli, E.
Sykes, N. H.
Sousa, I.
Toma, C.
Barnby, G.
Butler, H.
Winchester, L.
Scerri, T. S.
Minopoli, F.
Reichert, J.
Cai, G.
Buxbaum, J. D.
Korvatska, O.
Schellenberg, G. D.
Dawson, G.
de Bildt, A.
Minderaa, R. B.
Mulder, E. J.
Morris, A. P.
Bailey, A. J.
Monaco, A. P.

September 2010

Autism spectrum disorders are a group of highly heritable neurodevelopmental disorders with a comple...

Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment.

Newbury, D.F.
Warburton, P.C.
Wilson, N.
Bacchelli, E.
Carone, S.
International Molecular Genetic Study of Autism Consortium
Lamb, J.A.
Maestrini, E.
Monaco, A.P.
Volpi, E.
Newbury, D.F.
Warburton, P.C.
Wilson, N.
Bacchelli, E.
Carone, S.
International Molecular Genetic Study of Autism Consortium
Lamb, J.A.
Maestrini, E.
Monaco, A.P.
Volpi, E.

January 2009

Autism is a neurodevelopmental disorder characterized by deficits in reciprocal social interaction a...

Presence of Large Deletions in Kindreds with Autism

Yu, Chang-En
Dawson, Geraldine
Munson, Jeffrey
D’Souza, Ian
Osterling, Julie
Estes, Annette
Leutenegger, Anne-Louise
Flodman, Pamela
Smith, Moyra
Raskind, Wendy H.
Spence, M. Anne
McMahon, William
Wijsman, Ellen M.
Schellenberg, Gerard D.

July 2002

Autism is caused, in part, by inheritance of multiple interacting susceptibility alleles. To identif...

Identifying autism loci and genes by tracing recent shared ancestry

Eric M. Morrow
Seung-yun Yoo
Steven W. Flavell
Tae-kyung Kim
Yingxi Lin
Robert Sean Hill
Nahit M. Mukaddes
Soher Balkhy
Generoso Gascon
Asif Hashmi
Samira Al-saad
Janice Ware
Robert M. Joseph
Rachel Greenblatt
Danielle Gleason
Julia A. Ertelt
Kira A. Apse
Adria Bodell
Jennifer N. Partlow
Brenda Barry
Hui Yao
Kyriacos Markianos
Russell J. Ferl
Michael E. Greenberg
Christopher A. Walsh

January 2008

To find inherited causes of autism-spectrum disorders, we studied families in which parents share an...

De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder

October 2014

Summary: Whole-exome sequencing (WES) studies have demonstrated the contribution of de novo loss-of-...

Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders

November 2022

Most genetic studies consider autism spectrum disorder (ASD) and developmental disorder (DD) separat...

A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium.

March 1998

Autism is characterized by impairments in reciprocal social interaction and communication, and restr...

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

September 2015

Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families)...

De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder

October 2014

SummaryWhole-exome sequencing (WES) studies have demonstrated the contribution of de novo loss-of-fu...

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

September 2015

SummaryAnalysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 fa...

A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium

January 1998

Autism is characterized by impairments in reciprocal social interaction and communication, and restr...

High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility

Maestrini, E.
Pagnamenta, A. T.
Lamb, J. A.
Bacchelli, E.
Sykes, N. H.
Sousa, I.
Toma, C.
Barnby, G.
Butler, H.
Winchester, L.
Scerri, T. S.
Minopoli, F.
Reichert, J.
Cai, G.
Buxbaum, J. D.
Korvatska, O.
Schellenberg, G. D.
Dawson, G.
de Bildt, A.
Minderaa, R. B.
Mulder, E. J.
Morris, A. P.
Bailey, A. J.
Monaco, A. P.

September 2010

Autism spectrum disorders are a group of highly heritable neurodevelopmental disorders with a comple...