--- _id: '2313' abstract: - lang: eng text: 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. author: - first_name: Tracy full_name: Dixon-Salazar, Tracy J last_name: Dixon Salazar - first_name: Jennifer full_name: Silhavy, Jennifer L last_name: Silhavy - first_name: Nitin full_name: Udpa, Nitin last_name: Udpa - first_name: Jana full_name: Schroth, Jana last_name: Schroth - first_name: Stephanie full_name: Bielas, Stephanie L last_name: Bielas - first_name: Ashleigh full_name: Schaffer, Ashleigh E last_name: Schaffer - first_name: Jesus full_name: Olvera, Jesus last_name: Olvera - first_name: Vineet full_name: Bafna, Vineet K last_name: Bafna - first_name: Maha full_name: Zaki, Maha S last_name: Zaki - first_name: Ghada full_name: Abdel-Salam, Ghada M last_name: Abdel Salam - first_name: Lobna full_name: Mansour, Lobna A last_name: Mansour - first_name: Laila full_name: Selim, Laila A last_name: Selim - first_name: Sawsan full_name: Abdel-Hadi, Sawsan S last_name: Abdel Hadi - first_name: Naima full_name: Marzouki, Naima last_name: Marzouki - first_name: Tawfeg full_name: Ben-Omran, Tawfeg I last_name: Ben Omran - first_name: Nouriya full_name: Al-Saana, Nouriya A last_name: Al Saana - first_name: Fatma full_name: Sönmez, Fatma M last_name: Sönmez - first_name: Figen full_name: Celep, Figen last_name: Celep - first_name: Matloob full_name: Azam, Matloob last_name: Azam - first_name: Kiley full_name: Hill, Kiley J last_name: Hill - first_name: Adrienne full_name: Collazo, Adrienne last_name: Collazo - first_name: Ali full_name: Fenstermaker, Ali G last_name: Fenstermaker - first_name: Gaia full_name: Gaia Novarino id: 3E57A680-F248-11E8-B48F-1D18A9856A87 last_name: Novarino orcid: 0000-0002-7673-7178 - first_name: Naiara full_name: Akizu, Naiara last_name: Akizu - first_name: Kiran full_name: Garimella, Kiran V last_name: Garimella - first_name: Carrie full_name: Sougnez, Carrie L last_name: Sougnez - first_name: Carsten full_name: Russ, Carsten last_name: Russ - first_name: Stacey full_name: Gabriel, Stacey B last_name: Gabriel - first_name: Joseph full_name: Gleeson, Joseph G last_name: Gleeson citation: ama: Dixon Salazar T, Silhavy J, Udpa N, et al. Exome sequencing can improve diagnosis and alter patient management. Science Translational Medicine. 2012;4(138). doi:10.1126/scitranslmed.3003544 apa: Dixon Salazar, T., Silhavy, J., Udpa, N., Schroth, J., Bielas, S., Schaffer, A., … Gleeson, J. (2012). Exome sequencing can improve diagnosis and alter patient management. Science Translational Medicine. American Association for the Advancement of Science. https://doi.org/10.1126/scitranslmed.3003544 chicago: Dixon Salazar, Tracy, Jennifer Silhavy, Nitin Udpa, Jana Schroth, Stephanie Bielas, Ashleigh Schaffer, Jesus Olvera, et al. “Exome Sequencing Can Improve Diagnosis and Alter Patient Management.” Science Translational Medicine. American Association for the Advancement of Science, 2012. https://doi.org/10.1126/scitranslmed.3003544. ieee: T. Dixon Salazar et al., “Exome sequencing can improve diagnosis and alter patient management,” Science Translational Medicine, vol. 4, no. 138. American Association for the Advancement of Science, 2012. ista: Dixon Salazar T, Silhavy J, Udpa N, Schroth J, Bielas S, Schaffer A, Olvera J, Bafna V, Zaki M, Abdel Salam G, Mansour L, Selim L, Abdel Hadi S, Marzouki N, Ben Omran T, Al Saana N, Sönmez F, Celep F, Azam M, Hill K, Collazo A, Fenstermaker A, Novarino G, Akizu N, Garimella K, Sougnez C, Russ C, Gabriel S, Gleeson J. 2012. Exome sequencing can improve diagnosis and alter patient management. Science Translational Medicine. 4(138). mla: Dixon Salazar, Tracy, et al. “Exome Sequencing Can Improve Diagnosis and Alter Patient Management.” Science Translational Medicine, vol. 4, no. 138, American Association for the Advancement of Science, 2012, doi:10.1126/scitranslmed.3003544. short: T. Dixon Salazar, J. Silhavy, N. Udpa, J. Schroth, S. Bielas, A. Schaffer, J. Olvera, V. Bafna, M. Zaki, G. Abdel Salam, L. Mansour, L. Selim, S. Abdel Hadi, N. Marzouki, T. Ben Omran, N. Al Saana, F. Sönmez, F. Celep, M. Azam, K. Hill, A. Collazo, A. Fenstermaker, G. Novarino, N. Akizu, K. Garimella, C. Sougnez, C. Russ, S. Gabriel, J. Gleeson, Science Translational Medicine 4 (2012). date_created: 2018-12-11T11:56:56Z date_published: 2012-06-13T00:00:00Z date_updated: 2021-01-12T06:56:43Z day: '13' doi: 10.1126/scitranslmed.3003544 extern: 1 intvolume: ' 4' issue: '138' month: '06' publication: Science Translational Medicine publication_status: published publisher: American Association for the Advancement of Science publist_id: '4614' quality_controlled: 0 status: public title: Exome sequencing can improve diagnosis and alter patient management type: journal_article volume: 4 year: '2012' ...