1. GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK. Issue 10 (6th August 2015) Authors: Au, P. Y. Billie; You, Jing; Caluseriu, Oana; Schwartzentruber, Jeremy; Majewski, Jacek; Bernier, Francois P.; Ferguson, Marcia; Valle, David; Parboosingh, Jillian S.; Sobreira, Nara; Innes, A. Micheil; Kline, Antonie D. Journal: Human mutation Issue: Volume 36:Issue 10(2015:Oct.) Page Start: 1009 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗