Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

Sergio I. Nemirovsky; Marta Córdoba; Jonathan J. Zaiat; Sabrina P. Completa; Patricia A. Vega; Dolores González-Morón; Nancy M. Medina; Mónica Fabbro; Soledad Romero; Bianca Brun; Santiago Revale; María Florencia Ogara; Adali Pecci; Marcelo Marti; Martin Vazquez; Adrián Turjanski; Marcelo A. Kauffman

doi:10.1371/journal.pone.0116358

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Peer-reviewed

Research Article

Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

Sergio I. Nemirovsky ,

¶‡ These authors contributed equally to this work.

Affiliation Plataforma de Bioinformática Argentina, Instituto de Cálculo, Pabellón 2, Ciudad Universitaria, Facultad de Ciencias Exactas y Naturales, UBA, Buenos Aires, Argentina
⨯
Marta Córdoba ,

¶‡ These authors contributed equally to this work.

Affiliation Consultorio y Laboratorio de Neurogenética. Hospital JM Ramos Mejía. IBCN Eduardo de Robertis UBA-CONICET, Buenos Aires, Argentina
⨯
Jonathan J. Zaiat,

Affiliation Plataforma de Bioinformática Argentina, Instituto de Cálculo, Pabellón 2, Ciudad Universitaria, Facultad de Ciencias Exactas y Naturales, UBA, Buenos Aires, Argentina
⨯
Sabrina P. Completa,

Affiliation Plataforma de Bioinformática Argentina, Instituto de Cálculo, Pabellón 2, Ciudad Universitaria, Facultad de Ciencias Exactas y Naturales, UBA, Buenos Aires, Argentina
⨯
Patricia A. Vega,

Affiliation Consultorio y Laboratorio de Neurogenética. Hospital JM Ramos Mejía. IBCN Eduardo de Robertis UBA-CONICET, Buenos Aires, Argentina
⨯
Dolores González-Morón,

Affiliation Consultorio y Laboratorio de Neurogenética. Hospital JM Ramos Mejía. IBCN Eduardo de Robertis UBA-CONICET, Buenos Aires, Argentina
⨯
Nancy M. Medina,

Affiliation Consultorio y Laboratorio de Neurogenética. Hospital JM Ramos Mejía. IBCN Eduardo de Robertis UBA-CONICET, Buenos Aires, Argentina
⨯
Mónica Fabbro,

Affiliation Instituto de Agrobiotecnología de Rosario (INDEAR), CONICET, Predio CCT, Rosario, Argentina
⨯
Soledad Romero,

Affiliation Instituto de Agrobiotecnología de Rosario (INDEAR), CONICET, Predio CCT, Rosario, Argentina
⨯
Bianca Brun,

Affiliation Instituto de Agrobiotecnología de Rosario (INDEAR), CONICET, Predio CCT, Rosario, Argentina
⨯
Santiago Revale,

Affiliation Instituto de Agrobiotecnología de Rosario (INDEAR), CONICET, Predio CCT, Rosario, Argentina
⨯
María Florencia Ogara,

Affiliation Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, IFIBYNE-CONICET, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires, Argentina
⨯
Adali Pecci,

Affiliation Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, IFIBYNE-CONICET, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires, Argentina
⨯
Marcelo Marti,

Affiliations Plataforma de Bioinformática Argentina, Instituto de Cálculo, Pabellón 2, Ciudad Universitaria, Facultad de Ciencias Exactas y Naturales, UBA, Buenos Aires, Argentina, Departamento de Química Biológica, Pabellón 2, Ciudad Universitaria, Facultad de Ciencias Exactas y Naturales, UBA, INQUIMAE/CONICET, Buenos Aires, Argentina
⨯
Martin Vazquez,

Affiliation Instituto de Agrobiotecnología de Rosario (INDEAR), CONICET, Predio CCT, Rosario, Argentina
⨯
Adrián Turjanski,

Affiliations Plataforma de Bioinformática Argentina, Instituto de Cálculo, Pabellón 2, Ciudad Universitaria, Facultad de Ciencias Exactas y Naturales, UBA, Buenos Aires, Argentina, Departamento de Química Biológica, Pabellón 2, Ciudad Universitaria, Facultad de Ciencias Exactas y Naturales, UBA, INQUIMAE/CONICET, Buenos Aires, Argentina
⨯
[ ... ],
Marcelo A. Kauffman

* E-mail: marcelokauffman@gmail.com

Affiliation Consultorio y Laboratorio de Neurogenética. Hospital JM Ramos Mejía. IBCN Eduardo de Robertis UBA-CONICET, Buenos Aires, Argentina
⨯
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Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

Sergio I. Nemirovsky,
Marta Córdoba,
Jonathan J. Zaiat,
Sabrina P. Completa,
Patricia A. Vega,
Dolores González-Morón,
Nancy M. Medina,
Mónica Fabbro,
Soledad Romero,
Bianca Brun

Published: February 3, 2015
https://doi.org/10.1371/journal.pone.0116358

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20 Feb 2015
22:56 GMT
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mosaicism Posted by wijsman on 19 Feb 2015 at 20:08 GMT

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