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