1. An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3. Issue 12 (12th September 2019) Authors: Castelluccio, Valerie J.; Vetrini, Francesco; Lynnes, Ty; Jones, Julie; Holloway, Lynda; Belonis, Alyce; Breman, Amy M.; Graham, Brett H.; Sapp, Katherine; Wilson, Theodore; Schwartz, Charles E.; Pratt, Victoria M.; Weaver, David D. Journal: American journal of medical genetics Issue: Volume 179:Issue 12(2019) Page Start: 2357 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Exome sequencing identified a novel HIST1H1E heterozygous protein‐truncating variant in a 6‐month‐old male patient with Rahman syndrome: A case report. Issue 2 (7th February 2022) Authors: Indugula, Subba Rao; Ayala, Sofia Saenz; Vetrini, Francesco; Belonis, Alyce; Zhang, Wenying Journal: Clinical case reports Issue: Volume 10:Issue 2(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗