Sherri J. Bale

TL;DR: Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends thatclinical molecular genetic testing should be performed in a Clinical Laboratory Improvement Amendments–approved laboratory, with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or the equivalent.

TL;DR: It is shown that two independent loss-of-function genetic variants (R510X and 2282del4) in the gene encoding filaggrin (FLG) are very strong predisposing factors for atopic dermatitis.

TL;DR: The new process for accepting and evaluating nominations for updates to the secondary findings list is described, and the updated secondary findings minimum list includes 59 medically actionable genes recommended for return in clinical genomic sequencing.

TL;DR: It is found that loss or reduction of this major structural protein, filaggrin, leads to varying degrees of impaired keratinization.

TL;DR: The frequency of the clinical and radiological anomalies in Nevoid basal cell carcinoma syndrome in a large population of US patients is delineated and guidelines for diagnosis and management are discussed.