1. A Novel Human β-Globin Gene Variant [Hb London-Ontario, HBB: c.332T>G] is Associated with Transfusion-Dependent Anemia in a Patient with a Hemoglobin Electrophoresis Pattern Consistent with β-Thalassemia Trait. (4th March 2019) Authors: Bienz, Marc N.; Hsia, Cyrus; Waye, John S.; Bode, Margo; Solh, Ziad Journal: Hemoglobin Issue: Volume 43:Number 2(2019) Page Start: 129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Characterization of Two Novel Deletions Involving the 5′ Region of the β-Globin Gene. (2nd November 2017) Authors: Waye, John S.; Hanna, Meredith; Hohenadel, Betty-Ann; Nakamura, Lisa; Walker, Lynda; Eng, Barry Journal: Hemoglobin Issue: Volume 41:Number 4/5/6(2017) Page Start: 239 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical evaluation of a hemochromatosis next‐generation sequencing gene panel. (11th November 2016) Authors: Lanktree, Matthew B.; Sadikovic, Bekim; Waye, John S.; Levstik, Alexander; Lanktree, Bruce B.; Yudin, Jovana; Crowther, Mark A.; Pare, Guillaume; Adams, Paul C. Journal: European journal of haematology Issue: Volume 98:Number 3(2017:Mar.) Page Start: 228 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Hepatoblastoma in a Child With Early-onset Cirrhosis. Issue 1 (January 2019) Authors: Bennett, Julie; Kirby-Allen, Melanie; Ng, Vicky; Waye, John S.; Chung, Catherine T.; Shaikh, Furqan Journal: Journal of pediatric hematology/oncology Issue: Volume 41:Issue 1(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Microcytosis in patients with haemoglobin C trait: is α‐thalassaemia trait to blame?. (18th September 2020) Authors: Forté, Stéphanie; Eng, Barry; Verhovsek, Madeleine; Soulières, Denis; Waye, John S. Journal: British journal of haematology Issue: Volume 191:Number 5(2020) Page Start: e129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mild β+-Thalassemia Associated With Two Linked Sequence Variants: IVS-II-839 (T>C) and IVS-II-844 (C>A). (August 2013) Authors: Waye, John S.; Eng, Barry; Hellens, Laurie; Hohenadel, Betty-Ann; Nakamura, Lisa M.; Walker, Lynda Journal: Hemoglobin Issue: Volume 37:Number 4(2013) Page Start: 378 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Non-Thalassemic Phenotype Associated With the -83 (G > A) Mutation of the β-Globin Gene Promoter (HBB: c.-133G > A). (December 2014) Authors: Waye, John S.; Eng, Barry; Hanna, Meredith; Hohenadel, Betty-Ann; Nakamura, Lisa N.; Walker, Lynda Journal: Hemoglobin Issue: Volume 38:Number 6(2014) Page Start: 447 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Normal Hb A2 β-Thalassemia Trait: Frameshift Mutation (HBB: c.187_251dup) in Cis with the Hb A2' δ-Globin Gene Missense Mutation (HBD: c.49G>C). (April 2013) Authors: Waye, John S.; Eng, Barry; Hellens, Laurie; Hohenadel, Betty-Ann; Nakamura, Lisa M.; Walker, Lynda Journal: Hemoglobin Issue: Volume 37:Number 2(2013) Page Start: 201 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TTT>TTG); HBB: c.258T>G]. (2nd January 2020) Authors: Nabhani, Ibrahim Al; Aneke, John C.; Verhovsek, Madeleine; Eng, Barry; Kuo, Kevin H.M.; Rudinskas, Leona C.; Waye, John S. Journal: Hemoglobin Issue: Volume 44:Number 1(2020) Page Start: 10 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗