1. Expansion of NEUROD2 phenotypes to include developmental delay without seizures. Issue 4 (13th January 2021) Authors: Mis, Emily K.; Sega, Annalisa G.; Signer, Rebecca H.; Cartwright, Tracy; Ji, Weizhen; Martinez‐Agosto, Julian A.; Nelson, Stanley F.; Palmer, Christina G. S.; Lee, Hane; Mitzelfelt, Thomas; Konstantino, Monica; Jeffries, Lauren; Khokha, Mustafa K.; Marco, Elysa; Martin, Martin G.; Lakhani, Saquib A. Journal: American journal of medical genetics Issue: Volume 185:Issue 4(2021) Page Start: 1076 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Mutations in STAG2 cause an X‐linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males. Issue 2 (16th November 2018) Authors: Mullegama, Sureni V.; Klein, Steven D.; Signer, Rebecca H.; Vilain, Eric; Martinez‐Agosto, Julian A. Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 2(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗