Výsledky vyhledávání - "Elizna M. Schoeman"

Akademický článek

RBCeq: A robust and scalable algorithm for accurate genetic blood typing

Autor: Sudhir Jadhao, Candice L. Davison, Eileen V. Roulis, Elizna M. Schoeman, Mayur Divate, Mitchel Haring, Chris Williams, Arvind Jaya Shankar, Simon Lee, Natalie M. Pecheniuk, David O Irving, Catherine A. Hyland, Robert L. Flower, Shivashankar H. Nagaraj

Publikováno v: EBioMedicine, Vol 76, Iss , Pp 103759- (2022)

Summary: Background: While blood transfusion is an essential cornerstone of hematological care, patients requiring repetitive transfusion remain at persistent risk of alloimmunization due to the diversity of human blood group polymorphisms. Despite t

Externí odkaz: https://doaj.org/article/24764dc89c7f48f082d294932d5fc3a1

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RBCeq: A robust and scalable algorithm for accurate genetic blood typing

Publikováno v: EBioMedicine
EBioMedicine, Vol 76, Iss, Pp 103759-(2022)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51c8091759228cecdfc335e43918b438
https://pubmed.ncbi.nlm.nih.gov/35033986

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RBCeq: An Integrated Bioinformatics Algorithm Designed to Improve Blood Type Compatibility Testing

Autor: Natalie M. Pecheniuk, David O. Irving, Arvind Jaya Shankar, Robert L. Flower, Catherine A. Hyland, Candice Davison, Sudhir Jadhao, Simon Lee, Elizna M. Schoeman, Eileen Roulis, Shivashankar H. Nagaraj, Mayur D Divate

While blood transfusion is an essential cornerstone of hematological care, patients that require repetitive transfusion remain at persistent risk of alloimmunization due to the diversity of human blood group polymorphisms. Next-generation sequencing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dcb36dbd865582849b314ebbc679fae5
https://doi.org/10.1101/2021.01.13.426510

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Targeted exome sequencing designed for blood group, platelet, and neutrophil antigen investigations: Proof-of-principle study for a customized single-test system

Autor: Yew-Wah Liew, Mark Burton, Greg Jones, Robert L. Flower, Matthew Hobbs, Gail Pahn, Eileen Roulis, Elizna M. Schoeman, Catherine A. Hyland

Publikováno v: TransfusionREFERENCES. 60(9)

Background Immunohematology reference laboratories provide red blood cell (RBC), platelet (PLT), and neutrophil typing to resolve complex cases, using serology and commercial DNA tests that define clinically important antigens. Broad-range exome sequ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::932d1f071aa746b37df6bfd0438bcda1
https://pubmed.ncbi.nlm.nih.gov/32687227

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Investigation of the variable In(Lu) phenotype caused byKLF1variants

Autor: Melinda M. Dean, Assia Moussa, Nicole S. Fraser, Terry Walsh, Catherine A. Hyland, Andrew C. Perkins, Christine Knauth, Robert L. Flower, Glenda M. Millard, Elizna M. Schoeman

Publikováno v: Transfusion. 58:2414-2420

KLF1 is an essential transcriptional activator that drives erythropoiesis. KLF1 variants can result in the Inhibitor of Lutheran, or In(Lu), phenotype where red blood cells (RBCs) have reduced BCAM (LU) and CD44 (IN). Other RBC surface molecules also

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::055a0fb599cadd398e3910279bdd2797
https://doi.org/10.1111/trf.14926

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Severe hemolytic disease of the fetus and newborn due to allo-anti-D in a patient with a partial DEL phenotype arising from the variant allele described asRHD*148+1T (RHD*01EL.31)

Autor: Eunike C. McGowan, Marie-France Delisle, Amanda Skoll, Catherine A. Hyland, Elona Turley, Tanya N. Nelson, Robert L. Flower, Elizna M. Schoeman, Nicholas Au, Gwen Clarke

Publikováno v: Transfusion. 58:2260-2264

BACKGROUND: RhD DEL variants may show complete or partial expression of RhD epitopes. There have been only rare reports of anti‐D causing hemolytic disease of the fetus and newborn (HDFN) in this context. We report a case of severe HDFN associated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bafa42fb365eb210122c9e2d3d769c6b
https://doi.org/10.1111/trf.14944

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A DEL phenotype attributed toRHDExon 9 sequence deletion: slipped-strand mispairing and blood group polymorphisms

Autor: Robyn M Turner, Elizna M. Schoeman, Robert L. Flower, Eunike C. McGowan, Glenda M. Millard, Yew-Wah Liew, Helen O'Brien, Catherine A. Hyland, Genghis H. Lopez, Amanda J Allen, Eileen Roulis, Stacy A. Scott

Publikováno v: Transfusion. 58:685-691

Background The RhD blood group antigen is extremely polymorphic and the DEL phenotype represents one such class of polymorphisms. The DEL phenotype prevalent in East Asian populations arises from a synonymous substitution defined as RHD*1227A. Howeve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0cb2cf64da9222b4c8354ee8f9dbff95
https://doi.org/10.1111/trf.14439

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Non-invasive fetal RHD genotyping for RhD negative women stratified into RHD gene deletion or variant groups: comparative accuracy using two blood collection tube types

Autor: Glenn Gardener, Anne Tremellen, J. Hyett, Eunike C. McGowan, Rachel Puddephatt, Kirsten Gaerty, Catherine A. Hyland, Genghis H. Lopez, Robert L. Flower, Glenda M. Millard, Helen O'Brien, Elizna M. Schoeman

Publikováno v: Pathology. 49:757-764

Non-invasive fetal RHD genotyping in Australia to reduce anti-D usage will need to accommodate both prolonged sample transport times and a diverse population demographic harbouring a range of RHD blood group gene variants. We compared RHD genotyping

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eca4804508e466c5081658a005bd2106
https://doi.org/10.1016/j.pathol.2017.08.010

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Targeted exome sequencing defines novel and rare variants in complex blood group serology cases for a red blood cell reference laboratory setting

Autor: Brett Wilson, Catherine A. Hyland, Jennifer A. Condon, Robert L. Flower, Helen O'Brien, Genghis H. Lopez, Glenda M. Millard, Jacqueline R. Martin, Tanya Powley, Elizna M. Schoeman, Yew-Wah Liew, Eunike C. McGowan, Eileen Roulis

Publikováno v: Transfusion. 58:284-293

BACKGROUND: We previously demonstrated that targeted exome sequencing accurately defined blood group genotypes for reference panel samples characterized by serology and single-nucleotide polymorphism (SNP) genotyping. Here we investigate the applicat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7f077bfb0b768ddaea04348830d0b8f9
https://doi.org/10.1111/trf.14393

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