1. Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel. Issue 8 (24th September 2021) Authors: Kountouris, Petros; Stephanou, Coralea; Lederer, Carsten W.; Traeger‐Synodinos, Joanne; Bento, Celeste; Harteveld, Cornelis L.; Fylaktou, Eirini; Koopmann, Tamara T.; Halim‐Fikri, Hashim; Michailidou, Kyriaki; Nfonsam, Landry E.; Waye, John S.; Zilfalil, Bin A.; Kleanthous, Marina Other Names: Laner Andreas guestEditor.; Maver Ales guestEditor.; den Dunnen Johan T. guestEditor. Journal: Human mutation Issue: Volume 43:Issue 8(2022) Page Start: 1089 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Gene Therapy Getting Personal: Mutation-Specific Editing and Gene Addition Strategies for β-Thalassaemia. (2nd November 2019) Authors: Lederer, Carsten W.; Patsali, Petros; Mussolino, Claudio; Turchiano, Giandomenico; Papasavva, Panayiota; Romito, Marianna; Stephanou, Coralea; Cornu, Tatjana I.; Kolnagou, Annita; Christou, Soteroula; Sitarou, Maria; Antoniou, Mike N.; Cathomen, Toni; Kleanthous, Marina Journal: Hemoglobin Issue: Volume 43:Number 6(2019) Page Start: 330 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. ITHANET: An Information and Database Community Portal for Hemoglobinopathies. (2nd November 2019) Authors: Stephanou, Coralea; Kountouris, Petros; Tamana, Stella; Minaidou, Anna; Lederer, Carsten W.; Kleanthous, Marina Journal: Hemoglobin Issue: Volume 43:Number 6(2019) Page Start: 363 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The International Hemoglobinopathy Research Network (INHERENT): An international initiative to study the role of genetic modifiers in hemoglobinopathies. Issue 11 (30th August 2021) Authors: Kountouris, Petros; Stephanou, Coralea; Archer, Natasha; Bonifazi, Fedele; Giannuzzi, Viviana; Kuo, Kevin H. M.; Maggio, Aurelio; Makani, Julie; Mañú‐Pereira, María del Mar; Michailidou, Kyriaki; Nkya, Siana; Nnodu, Obiageli E.; Trompeter, Sara; Tshilolo, Léon; Wonkam, Ambroise; Zilfalil, Bin Alw... Journal: American journal of hematology Issue: Volume 96:Issue 11(2021) Page Start: E416 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. The ITHANET-Human Variome Project: Moving Functional Annotation Forward. (2nd November 2019) Authors: Kountouris, Petros; Stephanou, Coralea; Lederer, Carsten W.; Tamana, Stella; Minaidou, Anna; Xenophontos, Maria; Angastiniotis, Michael; Eleftheriou, Androulla; Zilfalil, Bin Alwi; Ramesar, Raj S.; Elion, Jacques; Robinson, Helen M.; Kleanthous, Marina Journal: Hemoglobin Issue: Volume 43:Number 6(2019) Page Start: 327 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Variant Curation: Overview and Challenges. (2nd November 2019) Authors: Stephanou, Coralea; Kountouris, Petros; Lederer, Carsten W.; Kleanthous, Marina Journal: Hemoglobin Issue: Volume 43:Number 6(2019) Page Start: 325 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Variant Scoring Based on ClinGen Tools and Hemoglobinopathy-Specific Criteria. (2nd November 2019) Authors: Bento, Celeste; Kountouris, Petros; Stephanou, Coralea; Lederer, Carsten W.; Kleanthous, Marina Journal: Hemoglobin Issue: Volume 43:Number 6(2019) Page Start: 326 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗