1. A Minimal Set of SNPs for the Noninvasive Prenatal Diagnosis of β‐Thalassaemia. (31st January 2013) Authors: Papasavva, Thessalia E.; Lederer, Carsten W.; Traeger‐Synodinos, Jan; Mavrou, Ariadne; Kanavakis, Emmanuel; Ioannou, Christiana; Makariou, Christiana; Kleanthous, Marina Journal: Annals of human genetics Issue: Volume 77:Number 2(2013:Mar.) Page Start: 115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β‐thalassemia major. Issue 10 (24th June 2019) Authors: Fanis, Pavlos; Kousiappa, Ioanna; Phylactides, Marios; Kyrri, Andreani; Hadjigavriel, Michael; Christou, Soteroula; Sitarou, Maria; Kleanthous, Marina Journal: Human mutation Issue: Volume 40:Issue 10(2019) Page Start: 1768 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. Beta testing: preclinical genome editing in β-globin disorders. Issue 2 (2015) Authors: Lederer, Carsten W; Kleanthous, Marina Journal: Cell & gene therapy insights Issue: Volume 1:Issue 2(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Beta thalassaemia intermedia due to co‐inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis. (29th July 2016) Authors: Clark, Barnaby; Shooter, Claire; Smith, Frances; Brawand, David; Steedman, Laura; Oakley, Matthew; Rushton, Peter; Rooks, Helen; Wang, Xunde; Drousiotou, Anthi; Kyrri, Andriani; Hadjigavriel, Michael; Will, Andrew; Fisher, Chris; Higgs, Douglas R.; Phylipsen, Marion; Harteveld, Cornelis; Kleantho... Journal: British journal of haematology Issue: Volume 180:Number 1(2018) Page Start: 160 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Challenges and Opportunities of Precision Medicine in Sickle Cell Disease: Novel European Approach by GenoMed4All Consortium and ERN-EuroBloodNet. Issue 3 (22nd March 2023) Authors: Collado, Anna; Boaro, Maria Paola; van der Veen, Sigrid; Idrizovic, Amira; Biemond, Bart J.; Beneitez Pastor, David; Ortuño, Ana; Cela, Elena; Ruiz-Llobet, Anna; Bartolucci, Pablo; de Montalembert, Marianne; Castellani, Gastone; Biondi, Riccardo; Manara, Renzo; Sanavia, Tiziana; Fariselli, Piero;... Journal: HemaSphere Issue: Volume 7:Issue 3(2023) Page Start: e844 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. Hb A2 Episkopi – a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot–Lebanese descent. Issue 5 (28th May 2017) Authors: Lederer, Carsten W.; Pavlou, Eleni; Tanteles, George A.; Evangelidou, Paola; Sismani, Carolina; Kolnagou, Annita; Sitarou, Maria; Christou, Soteroulla; Hadjigavriel, Michael; Kleanthous, Marina Journal: Hematology Issue: Volume 22:Issue 5(2017) Page Start: 304 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗
10. KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β-hemoglobinopathy patients. (October 2012) Authors: Borg, Joseph; Phylactides, Marios; Bartsakoulia, Marina; Tafrali, Christina; Lederer, Carsten; Felice, Alexander E; Papachatzopoulou, Adamantia; Kourakli, Alexandra; Stavrou, Eleana F; Christou, Soteroula; Hou, Jun; Karkabouna, Sophia; Lappa-Manakou, Christina; Özgur, Zeliha; van IJcken, Wilfred;... Journal: Pharmacogenomics Issue: Volume 13:Number 13(2012) Page Start: 1487 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗