1. EVEN‐PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction. Issue 11 (1st September 2020) Authors: Younger, Georgianne; Vetrini, Francesco; Weaver, David D.; Lynnes, Ty C.; Treat, Kayla; Pratt, Victoria M.; Torres‐Martinez, Wilfredo Journal: American journal of medical genetics Issue: Volume 182:Issue 11(2020) Page Start: 2501 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Phenotype delineation of ZNF462 related syndrome. Issue 10 (30th July 2019) Authors: Kruszka, Paul; Hu, Tommy; Hong, Sungkook; Signer, Rebecca; Cogné, Benjamin; Isidor, Betrand; Mazzola, Sarah E.; Giltay, Jacques C.; van Gassen, Koen L. I.; England, Eleina M.; Pais, Lynn; Ockeloen, Charlotte W.; Sanchez‐Lara, Pedro A.; Kinning, Esther; Adams, Darius J.; Treat, Kayla; Torres‐Marti... Journal: American journal of medical genetics Issue: Volume 179:Issue 10(2019) Page Start: 2075 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗