P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency*

Bibliographic Details
Main Authors: Shruthi Mohan, Renee Geck, Shawn Fayer, Roseann Donnelly, Mary Relling, Tom Vulliamy, Kelly Caudle, Amber Waddell, Essence Kendall, Gonzalo Domingo, Angelo Minucci, Benedikt Ley, Cindy Chu, Cyrine Haidar, Howard McLeod, Josef Prchal, Mahmoud Sirdah, Vimla Aggarwal, Weiying Jiang, Emily Kyle, Meredith Weaver, Michelle Whirl-Carrillo, Andrew Stergachis
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774424000311
_version_ 1797267626912645120
author Shruthi Mohan
Renee Geck
Shawn Fayer
Roseann Donnelly
Mary Relling
Tom Vulliamy
Kelly Caudle
Amber Waddell
Essence Kendall
Gonzalo Domingo
Angelo Minucci
Benedikt Ley
Cindy Chu
Cyrine Haidar
Howard McLeod
Josef Prchal
Mahmoud Sirdah
Vimla Aggarwal
Weiying Jiang
Emily Kyle
Meredith Weaver
Michelle Whirl-Carrillo
Andrew Stergachis
author_facet Shruthi Mohan
Renee Geck
Shawn Fayer
Roseann Donnelly
Mary Relling
Tom Vulliamy
Kelly Caudle
Amber Waddell
Essence Kendall
Gonzalo Domingo
Angelo Minucci
Benedikt Ley
Cindy Chu
Cyrine Haidar
Howard McLeod
Josef Prchal
Mahmoud Sirdah
Vimla Aggarwal
Weiying Jiang
Emily Kyle
Meredith Weaver
Michelle Whirl-Carrillo
Andrew Stergachis
author_sort Shruthi Mohan
collection DOAJ
first_indexed 2024-04-25T01:19:35Z
format Article
id doaj.art-bea17b054abe4a83a7e7e16cc0023536
institution Directory Open Access Journal
issn 2949-7744
language English
last_indexed 2024-04-25T01:19:35Z
publishDate 2024-01-01
publisher Elsevier
record_format Article
series Genetics in Medicine Open
spelling doaj.art-bea17b054abe4a83a7e7e16cc00235362024-03-09T09:29:59ZengElsevierGenetics in Medicine Open2949-77442024-01-012100885P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency*Shruthi Mohan0Renee Geck1Shawn Fayer2Roseann Donnelly3Mary Relling4Tom Vulliamy5Kelly Caudle6Amber Waddell7Essence Kendall8Gonzalo Domingo9Angelo Minucci10Benedikt Ley11Cindy Chu12Cyrine Haidar13Howard McLeod14Josef Prchal15Mahmoud Sirdah16Vimla Aggarwal17Weiying Jiang18Emily Kyle19Meredith Weaver20Michelle Whirl-Carrillo21Andrew Stergachis22University of North Carolina at Chapel HillUniversity of WashingtonUniversity of WashingtonMassachusetts College of Pharmacy and Health SciencesSt. Jude Children's Research HospitalQueen Mary University of LondonSt. Jude Children's Research HospitalUniversity of North Carolina at Chapel HillUniversity of North Carolina at Chapel HillPATHFondazione Policlinico Universitario Agostino Gemelli IRCCSMenzies School of Health Research and Charles Darwin University, Darwin, AustraliaLao Oxford Mahidol Wellcome Research Unit & Centre for Tropical Medicine and Global HealthSt. Jude Children's Research HospitalUtah Tech UniversityHematology, University of UtahAl Azhar University – GazaColumbia University Medical CenterSun yat-sen UniversityAmerican College of Medical Genetics and GenomicsAmerican College of Medical Genetics and GenomicsStanford UniversityUniversity of Washingtonhttp://www.sciencedirect.com/science/article/pii/S2949774424000311
spellingShingle Shruthi Mohan
Renee Geck
Shawn Fayer
Roseann Donnelly
Mary Relling
Tom Vulliamy
Kelly Caudle
Amber Waddell
Essence Kendall
Gonzalo Domingo
Angelo Minucci
Benedikt Ley
Cindy Chu
Cyrine Haidar
Howard McLeod
Josef Prchal
Mahmoud Sirdah
Vimla Aggarwal
Weiying Jiang
Emily Kyle
Meredith Weaver
Michelle Whirl-Carrillo
Andrew Stergachis
P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency*
Genetics in Medicine Open
title P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency*
title_full P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency*
title_fullStr P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency*
title_full_unstemmed P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency*
title_short P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency*
title_sort p008 clingen glucose 6 phosphate dehydrogenase g6pd variant curation expert panel addressing the need for genetic variant classification in g6pd deficiency
url http://www.sciencedirect.com/science/article/pii/S2949774424000311
work_keys_str_mv AT shruthimohan p008clingenglucose6phosphatedehydrogenaseg6pdvariantcurationexpertpaneladdressingtheneedforgeneticvariantclassificationing6pddeficiency
AT reneegeck p008clingenglucose6phosphatedehydrogenaseg6pdvariantcurationexpertpaneladdressingtheneedforgeneticvariantclassificationing6pddeficiency
AT shawnfayer p008clingenglucose6phosphatedehydrogenaseg6pdvariantcurationexpertpaneladdressingtheneedforgeneticvariantclassificationing6pddeficiency
AT roseanndonnelly p008clingenglucose6phosphatedehydrogenaseg6pdvariantcurationexpertpaneladdressingtheneedforgeneticvariantclassificationing6pddeficiency
AT maryrelling p008clingenglucose6phosphatedehydrogenaseg6pdvariantcurationexpertpaneladdressingtheneedforgeneticvariantclassificationing6pddeficiency
AT tomvulliamy p008clingenglucose6phosphatedehydrogenaseg6pdvariantcurationexpertpaneladdressingtheneedforgeneticvariantclassificationing6pddeficiency
AT kellycaudle p008clingenglucose6phosphatedehydrogenaseg6pdvariantcurationexpertpaneladdressingtheneedforgeneticvariantclassificationing6pddeficiency
AT amberwaddell p008clingenglucose6phosphatedehydrogenaseg6pdvariantcurationexpertpaneladdressingtheneedforgeneticvariantclassificationing6pddeficiency
AT essencekendall p008clingenglucose6phosphatedehydrogenaseg6pdvariantcurationexpertpaneladdressingtheneedforgeneticvariantclassificationing6pddeficiency
AT gonzalodomingo p008clingenglucose6phosphatedehydrogenaseg6pdvariantcurationexpertpaneladdressingtheneedforgeneticvariantclassificationing6pddeficiency
AT angelominucci p008clingenglucose6phosphatedehydrogenaseg6pdvariantcurationexpertpaneladdressingtheneedforgeneticvariantclassificationing6pddeficiency
AT benediktley p008clingenglucose6phosphatedehydrogenaseg6pdvariantcurationexpertpaneladdressingtheneedforgeneticvariantclassificationing6pddeficiency
AT cindychu p008clingenglucose6phosphatedehydrogenaseg6pdvariantcurationexpertpaneladdressingtheneedforgeneticvariantclassificationing6pddeficiency
AT cyrinehaidar p008clingenglucose6phosphatedehydrogenaseg6pdvariantcurationexpertpaneladdressingtheneedforgeneticvariantclassificationing6pddeficiency
AT howardmcleod p008clingenglucose6phosphatedehydrogenaseg6pdvariantcurationexpertpaneladdressingtheneedforgeneticvariantclassificationing6pddeficiency
AT josefprchal p008clingenglucose6phosphatedehydrogenaseg6pdvariantcurationexpertpaneladdressingtheneedforgeneticvariantclassificationing6pddeficiency
AT mahmoudsirdah p008clingenglucose6phosphatedehydrogenaseg6pdvariantcurationexpertpaneladdressingtheneedforgeneticvariantclassificationing6pddeficiency
AT vimlaaggarwal p008clingenglucose6phosphatedehydrogenaseg6pdvariantcurationexpertpaneladdressingtheneedforgeneticvariantclassificationing6pddeficiency
AT weiyingjiang p008clingenglucose6phosphatedehydrogenaseg6pdvariantcurationexpertpaneladdressingtheneedforgeneticvariantclassificationing6pddeficiency
AT emilykyle p008clingenglucose6phosphatedehydrogenaseg6pdvariantcurationexpertpaneladdressingtheneedforgeneticvariantclassificationing6pddeficiency
AT meredithweaver p008clingenglucose6phosphatedehydrogenaseg6pdvariantcurationexpertpaneladdressingtheneedforgeneticvariantclassificationing6pddeficiency
AT michellewhirlcarrillo p008clingenglucose6phosphatedehydrogenaseg6pdvariantcurationexpertpaneladdressingtheneedforgeneticvariantclassificationing6pddeficiency
AT andrewstergachis p008clingenglucose6phosphatedehydrogenaseg6pdvariantcurationexpertpaneladdressingtheneedforgeneticvariantclassificationing6pddeficiency