Author Contributions: Drs Napolitano and Priori had full access to all of the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis.
Study concept and design: Napolitano, Priori.
Acquisition of data: Napolitano, Bloise, Ronchetti, Nastoli, Bottelli, Cerrone, Leonardi.
Analysis and interpretation of data: Napolitano, Priori, Schwartz, Ronchetti, Nastoli, Bottelli, Leonardi.
Drafting of the manuscript: Napolitano, Priori, Ronchetti, Nastoli, Bottelli, Cerrone, Leonardi.
Critical revision of the manuscript for important intellectual content: Napolitano, Priori, Schwartz, Bloise, Cerrone.
Statistical analysis: Napolitano, Priori, Bloise, Ronchetti, Nastoli, Bottelli, Leonardi.
Obtained funding: Priori.
Administrative, technical, or material support: Priori, Schwartz.
Study supervision: Priori, Bloise.
Financial Disclosures: Dr Priori has a patent pending for the proposed screening algorithm. Otherwise, none were reported.
Funding/Support: This work was supported by grants GP0227Y01 and GGP04066 Telethon, 2003/180 Ricerca Finalizzata, RBNE01XMP4_006 and RBLA035A4X_002FIRB, 2001067817_003 COFIN, HL68880 National Institutes of Health.
Role of the Sponsors: The funding organizations did not participate in the design and conduct of the study, and in the collection, analysis, and interpretation of the data, or in the preparation, review, or approval of the manuscript.
Additional Information: The eTable of novel mutations is available here.