Tamara T. Koopmann

Room 1725D, 555 University Avenue
Toronto, ON, Canada

Last Updated: 09/26/2026

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Found 45 publications

Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntington's disease.

Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntington's disease.

Journal: Journal of medical genetics

Published: January 20, 2026

Ebstein's anomaly with life-threatening arrhythmia: an unusual cardiovascular manifestation of Williams syndrome - a case report.

Ebstein's anomaly with life-threatening arrhythmia: an unusual cardiovascular manifestation of Williams syndrome - a case report.

Journal: BMC cardiovascular disorders

Published: April 16, 2025

Unusual Causes of β Thalassemia Trait: Discovery of another Three Novel SUPT5H Variants.

Unusual Causes of β Thalassemia Trait: Discovery of another Three Novel SUPT5H Variants.

Journal: Hemoglobin

Published: March 31, 2025

Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder.

Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder.

Journal: American journal of human genetics

Published: July 24, 2024

Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia.

Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia.

Journal: International journal of molecular sciences

Published: July 04, 2024

Alpha Thalassemia Screening in Multiethnic Population in Northern Europe Using Hb Bart's Immunochromatographic Test.

Alpha Thalassemia Screening in Multiethnic Population in Northern Europe Using Hb Bart's Immunochromatographic Test.

Journal: International journal of laboratory hematology

Published: July 03, 2024

Heterozygous Beta-Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions.

Heterozygous Beta-Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions.

Journal: Prenatal diagnosis

Published: June 08, 2024

A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II.

A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II.

Journal: American journal of medical genetics. Part A

Published: April 29, 2024

A PDLIM7 Variant in Familial Mitral Valve Prolapse: A Case Series.

A PDLIM7 Variant in Familial Mitral Valve Prolapse: A Case Series.

Journal: Clinical case reports

Published: April 12, 2024

Machine Learning-Based Prediction of Hemoglobinopathies Using Complete Blood Count Data.

Machine Learning-Based Prediction of Hemoglobinopathies Using Complete Blood Count Data.

Journal: Clinical chemistry

Published: January 12, 2024

Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with LMNA-Gene Variants.

Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with LMNA-Gene Variants.

Journal: Journal of cardiovascular development and disease

Published: December 30, 2023

Moderate-severe beta-thalassemia intermedia phenotype caused by sextuplicated alpha-globin gene allele in two beta-thalassemia carriers.

Moderate-severe beta-thalassemia intermedia phenotype caused by sextuplicated alpha-globin gene allele in two beta-thalassemia carriers.

Journal: American journal of hematology

Published: December 06, 2023

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Last Updated: 09/26/2026