Tayoun ANA, Pesaran T, DiStefano MT, et al. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. Hum Mutat. 2018;39(11):1517-1524. doi:10.1002/humu.23626.

DiStefano MT, Hemphill SE, Cushman BJ, et al. Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants. J Mol Diagn. 2018;20(6):789-801. doi:10.1016/j.jmoldx.2018.06.005.

Bolze A, Boisson B, Bosch B, et al. Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated exons. Proc Natl Acad Sci U S A. 2018;115(34):E8007-E8016. doi:10.1073/pnas.1805437115.

Li J, Choi PS, Chaffer CL, et al. An alternative splicing switch in FLNB promotes the mesenchymal cell state in human breast cancer. Elife. 2018;7. doi:10.7554/eLife.37184.

Zhang S, Samocha KE, Rivas MA, et al. Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides. Genome Res. 2018;28(7):968-974. doi:10.1101/gr.231902.117.

Nguyen HT, Bryois J, Kim A, et al. Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders. Genome Med. 2017;9(1):114. doi:10.1186/s13073-017-0497-y.

Kumar R, Gardner A, Homan CC, et al. Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery. Hum Mutat. 2018;39(8):1126-1138. doi:10.1002/humu.23557.

Di Gioia SA, Shaaban S, Tuysuz B, et al. Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies. Am J Hum Genet. 2018;103(1):115-124. doi:10.1016/j.ajhg.2018.05.003.

Vetere A, Li W-C, Paroni F, et al. OVO homologue-like 1 (Ovol1) transcription factor: a novel target of neurogenin-3 in rodent pancreas. Diabetologia. 2010;53(1):115-22. doi:10.1007/s00125-009-1567-5.

Stransky N, Egloff AM, Tward AD, et al. The mutational landscape of head and neck squamous cell carcinoma. Science. 2011;333(6046):1157-60. doi:10.1126/science.1208130.