Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants

Expanded Clinical Pharmacogenetics Implementation Consortium Guideline for Medication Use in the Context of G6PD Genotype

(2022) Roseann S. Gammal et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Measuring Pharmacogene Variant Function at Scale Using Multiplexed Assays

(2021) Renee C. Geck et al.   Annual Review of Pharmacology and Toxicology

Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN

(2021) Shawn Fayer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Incorporating G6PD genotyping to identify patients with G6PD deficiency

(2021) Sarah A. Morris et al.   Pharmacogenetics and Genomics

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Glucose-6-Phosphate Dehydrogenase Deficiency

(2020) Lucio Luzzatto et al.   BLOOD

Accessing NCBI data using the NCBI Sequence Viewer and Genome Data Viewer (GDV)

(2020) Sanjida H. Rangwala et al.   GENOME RESEARCH

Molecular Characterization of G6PD Deficiency: Report of Three Novel G6PD Variants

(2019) Arun Kumar Arunachalam et al.   INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION

Review and drug therapy implications of glucose-6-phosphate dehydrogenase deficiency

(2018) Kristen D. Belfield et al.   AMERICAN JOURNAL OF HEALTH-SYSTEM PHARMACY

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

(2018) Sean V Tavtigian et al.   GENETICS IN MEDICINE

Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes

(2018) Ibrahim Numanagić et al.   Nature Communications

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

African Glucose-6-Phosphate Dehydrogenase Alleles Associated with Protection from Severe Malaria in Heterozygous Females in Tanzania

(2015) Alphaxard Manjurano et al.   PLoS Genetics

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for Rasburicase Therapy in the Context of G6PD Deficiency Genotype

(2014) M V Relling et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Glucose-6-phosphate dehydrogenase (G6PD) mutations database: Review of the “old” and update of the new mutations

(2012) Angelo Minucci et al.   BLOOD CELLS MOLECULES AND DISEASES

Two new class III G6PD variants [G6PD Tunis (c.920A>C: p.307Gln>Pro) and G6PD Nefza (c.968T>C: p.323 Leu>Pro)] and overview of the spectrum of mutations in Tunisia

(2012) Ikbel Benmansour et al.   BLOOD CELLS MOLECULES AND DISEASES

PharmGKB summary

(2012) Ellen M. McDonagh et al.   Pharmacogenetics and Genomics

G6PD Deficiency Prevalence and Estimates of Affected Populations in Malaria Endemic Countries: A Geostatistical Model-Based Map

(2012) Rosalind E. Howes et al.   PLOS MEDICINE

The global prevalence of glucose-6-phosphate dehydrogenase deficiency: A systematic review and meta-analysis

(2009) Ella T. Nkhoma et al.   BLOOD CELLS MOLECULES AND DISEASES