--- res: bibo_abstract: - The translation of "next-generation" sequencing directly to the clinic is still being assessed but has the potential for genetic diseases to reduce costs, advance accuracy, and point to unsuspected yet treatable conditions. To study its capability in the clinic, we performed whole-exome sequencing in 118 probands with a diagnosis of a pediatric-onset neurodevelopmental disease in which most known causes had been excluded. Twenty-two genes not previously identified as disease-causing were identified in this study (19% of cohort), further establishing exome sequencing as a useful tool for gene discovery. New genes identified included EXOC8 in Joubert syndrome and GFM2 in a patient with microcephaly, simplified gyral pattern, and insulin-dependent diabetes. Exome sequencing uncovered 10 probands (8% of cohort) with mutations in genes known to cause a disease different from the initial diagnosis. Upon further medical evaluation, these mutations were found to account for each proband's disease, leading to a change in diagnosis, some of which led to changes in patient management. Our data provide proof of principle that genomic strategies are useful in clarifying diagnosis in a proportion of patients with neurodevelopmental disorders.@eng bibo_authorlist: - foaf_Person: foaf_givenName: Tracy foaf_name: Dixon-Salazar, Tracy J foaf_surname: Dixon Salazar - foaf_Person: foaf_givenName: Jennifer foaf_name: Silhavy, Jennifer L foaf_surname: Silhavy - foaf_Person: foaf_givenName: Nitin foaf_name: Udpa, Nitin foaf_surname: Udpa - foaf_Person: foaf_givenName: Jana foaf_name: Schroth, Jana foaf_surname: Schroth - foaf_Person: foaf_givenName: Stephanie foaf_name: Bielas, Stephanie L foaf_surname: Bielas - foaf_Person: foaf_givenName: Ashleigh foaf_name: Schaffer, Ashleigh E foaf_surname: Schaffer - foaf_Person: foaf_givenName: Jesus foaf_name: Olvera, Jesus foaf_surname: Olvera - foaf_Person: foaf_givenName: Vineet foaf_name: Bafna, Vineet K foaf_surname: Bafna - foaf_Person: foaf_givenName: Maha foaf_name: Zaki, Maha S foaf_surname: Zaki - foaf_Person: foaf_givenName: Ghada foaf_name: Abdel-Salam, Ghada M foaf_surname: Abdel Salam - foaf_Person: foaf_givenName: Lobna foaf_name: Mansour, Lobna A foaf_surname: Mansour - foaf_Person: foaf_givenName: Laila foaf_name: Selim, Laila A foaf_surname: Selim - foaf_Person: foaf_givenName: Sawsan foaf_name: Abdel-Hadi, Sawsan S foaf_surname: Abdel Hadi - foaf_Person: foaf_givenName: Naima foaf_name: Marzouki, Naima foaf_surname: Marzouki - foaf_Person: foaf_givenName: Tawfeg foaf_name: Ben-Omran, Tawfeg I foaf_surname: Ben Omran - foaf_Person: foaf_givenName: Nouriya foaf_name: Al-Saana, Nouriya A foaf_surname: Al Saana - foaf_Person: foaf_givenName: Fatma foaf_name: Sönmez, Fatma M foaf_surname: Sönmez - foaf_Person: foaf_givenName: Figen foaf_name: Celep, Figen foaf_surname: Celep - foaf_Person: foaf_givenName: Matloob foaf_name: Azam, Matloob foaf_surname: Azam - foaf_Person: foaf_givenName: Kiley foaf_name: Hill, Kiley J foaf_surname: Hill - foaf_Person: foaf_givenName: Adrienne foaf_name: Collazo, Adrienne foaf_surname: Collazo - foaf_Person: foaf_givenName: Ali foaf_name: Fenstermaker, Ali G foaf_surname: Fenstermaker - foaf_Person: foaf_givenName: Gaia foaf_name: Gaia Novarino foaf_surname: Novarino foaf_workInfoHomepage: http://www.librecat.org/personId=3E57A680-F248-11E8-B48F-1D18A9856A87 orcid: 0000-0002-7673-7178 - foaf_Person: foaf_givenName: Naiara foaf_name: Akizu, Naiara foaf_surname: Akizu - foaf_Person: foaf_givenName: Kiran foaf_name: Garimella, Kiran V foaf_surname: Garimella - foaf_Person: foaf_givenName: Carrie foaf_name: Sougnez, Carrie L foaf_surname: Sougnez - foaf_Person: foaf_givenName: Carsten foaf_name: Russ, Carsten foaf_surname: Russ - foaf_Person: foaf_givenName: Stacey foaf_name: Gabriel, Stacey B foaf_surname: Gabriel - foaf_Person: foaf_givenName: Joseph foaf_name: Gleeson, Joseph G foaf_surname: Gleeson bibo_doi: 10.1126/scitranslmed.3003544 bibo_issue: '138' bibo_volume: 4 dct_date: 2012^xs_gYear dct_publisher: American Association for the Advancement of Science@ dct_title: Exome sequencing can improve diagnosis and alter patient management@ ...