Whole Genome SNP Genotyping and Exome Sequencing Reveal Novel Genetic Variants and Putative Causative Genes in Congenital Hyperinsulinism

Maria Carla Proverbio; Eleonora Mangano; Alessandra Gessi; Roberta Bordoni; Roberta Spinelli; Rosanna Asselta; Paola Sogno Valin; Stefania Di Candia; Ilaria Zamproni; Cecilia Diceglie; Stefano Mora; Manuela Caruso-Nicoletti; Alessandro Salvatoni; Gianluca De Bellis; Cristina Battaglia

doi:10.1371/journal.pone.0068740

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Open Access

Peer-reviewed

Research Article

Whole Genome SNP Genotyping and Exome Sequencing Reveal Novel Genetic Variants and Putative Causative Genes in Congenital Hyperinsulinism

Maria Carla Proverbio,

Affiliation Dipartimento di Fisiopatologia e dei Trapianti (DePT), Università degli Studi di Milano, Milan, Italy
⨯
Eleonora Mangano,

Affiliation Institute of Biomedical Technologies (ITB), CNR, Segrate, Milan, Italy
⨯
Alessandra Gessi,

Affiliation Scuola di Dottorato di Medicina Molecolare, Università degli Studi di Milano, Milan, Italy
⨯
Roberta Bordoni,

Affiliation Institute of Biomedical Technologies (ITB), CNR, Segrate, Milan, Italy
⨯
Roberta Spinelli,

Affiliation Institute of Biomedical Technologies (ITB), CNR, Segrate, Milan, Italy
⨯
Rosanna Asselta,

Affiliation Dipartimento di Biotecnologie Mediche e Medicina Traslazionale (BIOMETRA), Università degli Studi di Milano, Milan, Italy
⨯
Paola Sogno Valin,

Affiliation Department of Pediatrics, San Raffaele Scientific Institute, Milan, Italy
⨯
Stefania Di Candia,

Affiliation Department of Pediatrics, San Raffaele Scientific Institute, Milan, Italy
⨯
Ilaria Zamproni,

Affiliation Laboratory of Pediatric Endocrinology, Division of Metabolic and Cardiovascular Sciences, San Raffaele Scientific Institute, Milan, Italy
⨯
Cecilia Diceglie,

Affiliation Laboratory of Pediatric Endocrinology, Division of Metabolic and Cardiovascular Sciences, San Raffaele Scientific Institute, Milan, Italy
⨯
Stefano Mora,

Affiliation Laboratory of Pediatric Endocrinology, Division of Metabolic and Cardiovascular Sciences, San Raffaele Scientific Institute, Milan, Italy
⨯
Manuela Caruso-Nicoletti,

Affiliation Dipartimento di Scienze Mediche e Pediatriche, Università di Catania, Catania, Italy
⨯
Alessandro Salvatoni,

Affiliation Department of Clinical and Experimental Medicine, Pediatric Unit, Insubria University, Varese, Italy
⨯
Gianluca De Bellis,

Affiliation Institute of Biomedical Technologies (ITB), CNR, Segrate, Milan, Italy
⨯
Cristina Battaglia

* E-mail: cristina.battaglia@unimi.it

Affiliations Institute of Biomedical Technologies (ITB), CNR, Segrate, Milan, Italy, Dipartimento di Biotecnologie Mediche e Medicina Traslazionale (BIOMETRA), Università degli Studi di Milano, Milan, Italy
⨯

Whole Genome SNP Genotyping and Exome Sequencing Reveal Novel Genetic Variants and Putative Causative Genes in Congenital Hyperinsulinism

Maria Carla Proverbio,
Eleonora Mangano,
Alessandra Gessi,
Roberta Bordoni,
Roberta Spinelli,
Rosanna Asselta,
Paola Sogno Valin,
Stefania Di Candia,
Ilaria Zamproni,
Cecilia Diceglie

Published: July 15, 2013
https://doi.org/10.1371/journal.pone.0068740

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