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An evaluation of genetic causes and environmental risks for bilateral optic atrophy

PloS one, 2019-11, Vol.14 (11), p.e0225656

2019

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Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

Nature genetics, 2011-04, Vol.43 (4), p.295-301

2011

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The duplication mutation of Quebec platelet disorder dysregulates PLAU, but not C10orf55, selectively increasing production of normal PLAU transcripts by megakaryocytes but not granulocytes

PloS one, 2017-03, Vol.12 (3), p.e0173991-e0173991

2017

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Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis

The Journal of molecular diagnostics : JMD, 2016-09, Vol.18 (5), p.657-667

2016

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Hb S/β+-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the β locus control region

Haematologica (Roma), 2015-05, Vol.100 (5), p.e166

2015

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Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes

Blood, 2009-02, Vol.113 (7), p.1543-1546

2009

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Examining the clinical use of hemochromatosis genetic testing

Canadian journal of gastroenterology & hepatology, 2015-01, Vol.29 (1), p.41-45

2015

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Microcytosis in patients with haemoglobin C trait: is α‐thalassaemia trait to blame?

British journal of haematology, 2020-12, Vol.191 (5), p.e129-e131

2020

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Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel

Human mutation, 2022-08, Vol.43 (8), p.1089-1096

2022

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Splice Acceptor Mutation [ HBB :c.93-2A > T] in a Patient with Hb S/β 0 -Thalassemia

Hemoglobin, 2024-03, Vol.48 (2), p.116-117

2024

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Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/β0-Thalassemia

Hemoglobin, 2024-03, Vol.48 (2), p.116-117

2024

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Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation ( HBB :c.336dup)

Hemoglobin, 2024-03, Vol.48 (2), p.113-115

2024

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β0-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T]

Hemoglobin, 2024-01, Vol.48 (1), p.69-70

2024

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β 0 -Thalassemia Caused by a Novel Nonsense Mutation [ HBB: c.199A > T]

Hemoglobin, 2024-01, Vol.48 (1), p.69-70

2024

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Outcomes of haemoglobin Bart's hydrops fetalis following intrauterine transfusion in Ontario, Canada

Archives of disease in childhood. Fetal and neonatal edition, 2021-01, Vol.106 (1), p.51

2021

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Clinical evaluation of a hemochromatosis next‐generation sequencing gene panel

European journal of haematology, 2017-03, Vol.98 (3), p.228-234

2017

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Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene

Blood, 2010-02, Vol.115 (6), p.1264-1266

2010

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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

Hemoglobin, 2019-03, Vol.43 (2), p.129-131

2019

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Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TTT>TTG); HBB: c.258T>G]

Hemoglobin, 2020-01, Vol.44 (1), p.10-12

2020

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Characterization of Two Novel Deletions Involving the 5′ Region of the β-Globin Gene

Hemoglobin, 2017-11, Vol.41 (4-6), p.239-242

2017

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Changes in the epidemiology of thalassemia in North America: a new minority disease

Pediatrics (Evanston), 2005-12, Vol.116 (6), p.e818

2005

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Multiplex Allele-Specific PCR for Simultaneous Detection of H63D and C282Y HFE Mutations in Hereditary Hemochromatosis

The journal of applied laboratory medicine, 2018-07, Vol.3 (1), p.10-17

2018

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α0-Thalassemia Due to a 90.7 kb Deletion (- -NFLD)

Hemoglobin, 2017-05, Vol.41 (3), p.218-219

2017

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α 0 -Thalassemia Due to a 90.7 kb Deletion (- - NFLD )

Hemoglobin, 2017-05, Vol.41 (3), p.218-219

2017

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An evaluation of genetic causes and environmental risks for bilateral optic atrophy

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

The duplication mutation of Quebec platelet disorder dysregulates PLAU, but not C10orf55, selectively increasing production of normal PLAU transcripts by megakaryocytes but not granulocytes

Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis

Hb S/β+-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the β locus control region

Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes

Examining the clinical use of hemochromatosis genetic testing

Microcytosis in patients with haemoglobin C trait: is α‐thalassaemia trait to blame?

Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel

Splice Acceptor Mutation [ HBB :c.93-2A > T] in a Patient with Hb S/β 0 -Thalassemia

Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/β0-Thalassemia

Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation ( HBB :c.336dup)

β0-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T]

β 0 -Thalassemia Caused by a Novel Nonsense Mutation [ HBB: c.199A > T]

Outcomes of haemoglobin Bart's hydrops fetalis following intrauterine transfusion in Ontario, Canada

Clinical evaluation of a hemochromatosis next‐generation sequencing gene panel

Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene

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

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TTT>TTG); HBB: c.258T>G]

Characterization of Two Novel Deletions Involving the 5′ Region of the β-Globin Gene

Changes in the epidemiology of thalassemia in North America: a new minority disease

Multiplex Allele-Specific PCR for Simultaneous Detection of H63D and C282Y HFE Mutations in Hereditary Hemochromatosis

α0-Thalassemia Due to a 90.7 kb Deletion (- -NFLD)

α 0 -Thalassemia Due to a 90.7 kb Deletion (- - NFLD )

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