1. A Novel Germline TP53 Mutation in a Patient With Li-Fraumeni Syndrome: Resolving a Variant of Uncertain Significance. Issue 8 (25th November 2021) Authors: Douglass, David P.; Stine, Kimo C.; Farrar, Jason E. Journal: Journal of pediatric hematology/oncology Issue: Volume 43:Issue 8(2021) Page Start: e1220 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Novel Germline TP53 Mutation in a Patient With Li-Fraumeni Syndrome: Resolving a Variant of Uncertain Significance. Issue 8 (November 2021) Authors: Douglass, David P.; Stine, Kimo C.; Farrar, Jason E. Journal: Journal of pediatric hematology/oncology Issue: Volume 43:Issue 8(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Diamond Blackfan anemia: A Cheshire cat of hematology. Issue 7 (14th March 2014) Authors: Farrar, Jason E. Journal: Pediatric blood & cancer Issue: Volume 61:Issue 7(2014:Jul.) Page Start: 1154 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Exploiting pre‐rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis. Issue 10 (4th August 2014) Authors: Farrar, Jason E.; Quarello, Paola; Fisher, Ross; O'Brien, Kelly A.; Aspesi, Anna; Parrella, Sara; Henson, Adrianna L.; Seidel, Nancy E.; Atsidaftos, Eva; Prakash, Supraja; Bari, Shahla; Garelli, Emanuela; Arceci, Robert J.; Dianzani, Irma; Ramenghi, Ugo; Vlachos, Adrianna; Lipton, Jeffrey M.; Bod... Journal: American journal of hematology Issue: Volume 89:Issue 10(2014:Oct.) Page Start: 985 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population: A Report of the Diamond Blackfan Anemia Registry. (May 2018) Authors: Vlachos, Adrianna; Osorio, Diana S.; Atsidaftos, Evangelia; Kang, Jessica; Lababidi, Mohammad Lutfi; Seiden, Howard S.; Gruber, Dorota; Glader, Bertil E.; Onel, Kenan; Farrar, Jason E.; Bodine, David M.; Aspesi, Anna; Dianzani, Irma; Ramenghi, Ugo; Ellis, Steven R.; Lipton, Jeffrey M. Journal: Circulation Issue: Volume 11:Number 5(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. L‐leucine improves anemia and growth in patients with transfusion‐dependent Diamond‐Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond‐Blackfan Anemia Registry. Issue 12 (6th October 2020) Authors: Vlachos, Adrianna; Atsidaftos, Evangelia; Lababidi, Mohammad Lutfi; Muir, Ellen; Rogers, Zora R.; Alhushki, Waseem; Bernstein, Jonathan; Glader, Bertil; Gruner, Barbara; Hartung, Helge; Knoll, Christine; Loew, Thomas; Nalepa, Grzegorz; Narla, Anupama; Panigrahi, Arun R.; Sieff, Colin A.; Walkovic... Journal: Pediatric blood & cancer Issue: Volume 67:Issue 12(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗