Juan-Sebastian Saldivar

TL;DR: A family with a wide variation in neuropsychiatric illness associated with a deletion of exons 4, 5, and 6 of NLGN4 is described, an autistic boy with a motor tic and his brother has Tourette syndrome and attention deficit hyperactivity disorder.

TL;DR: Analysis of somatic EGFR mutations in non‐small‐cell lung cancer (NSCLC) and associated epidemiological and methodological data, including response to the tyrosine kinase inhibitors Gefitinib and Erlotinib finds that the mutation pattern does not differ significantly with respect to gender, age, or tumor histology.

TL;DR: A brief overview of how noninvasive prenatal testing using next‐generation sequencing is performed is provided.

TL;DR: This unit provides a protocol to perform germline mutation analysis of the p53 gene, designed for detecting germline alterations from DNA extracted from blood; however, with some additional optimization, it could also be used to detect somatic mutations inDNA extracted from tumors.

TL;DR: An effort to establish evidence-based recommendations for the molecular analysis of lung cancers required to guide EGFR- and ALK-directed therapies, addressing which patients and samples should be tested, and when and how testing should be performed is established.