Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Evidence for the etiology of autism spectrum disorders (ASDs) has consistently pointed to a strong genetic component complicated by substantial locus heterogeneity. We sequenced the exomes of 20 individuals with sporadic ASD (cases) and their parents, reasoning that these families would be enriched...

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Egile Nagusiak:	O'Roak, B, Deriziotis, P, Lee, C, Vives, L, Schwartz, J, Girirajan, S, Karakoc, E, MacKenzie, A, Ng, S, Baker, C, Rieder, M, Nickerson, D, Bernier, R, Fisher, S, Shendure, J, Eichler, E
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	2011

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. nork O'Roak, B, Deriziotis, P, Lee, C, Vives, L, Schwartz, J, Girirajan, S, Karakoc, E, Mackenzie, A, Ng, S, Baker, C, Rieder, M, Nickerson, D, Bernier, R, Fisher, S, Shendure, J, Eichler, E

Argitaratua 2011

Journal article

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. nork O'Roak, B, Deriziotis, P, Lee, C, Vives, L, Schwartz, J, Girirajan, S, Karakoc, E, Mackenzie, A, Ng, S, Baker, C, Rieder, M, Nickerson, D, Bernier, R, Fisher, S, Shendure, J, Eichler, E

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