ArticleProceedings of the National Academy of Sciences of the United States of America2020
Massively parallel variant characterization identifies
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Article in Proceedings of the National Academy of Sciences of the United States of America, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers.
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71citing papers in PubMed
16.8field-weighted citation impact, top 1% of its field
What it found
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Who cites it
71 citing papers in PubMed, 139 citations in OpenAlex.
- Germ line genetic NBN variation and predisposition to B-cell acute lymphoblastic leukemia in children.Blood · 2024Trial
- Personalized Therapy with Mercaptopurine in Acute Lymphoblastic Leukemia: Current Advances and Challenges.Current treatment options in oncology · 2026Review
- Combining multiplexed functional data to improve variant classification.Genome medicine · 2026Article
- Allostery is a widespread cause of loss-of-function variant pathogenicity.Nature communications · 2026Article
- Pharmacogenomics and Epigenetic Regulation Transforming Pediatric Precision Therapeutics.Journal of personalized medicine · 2026Review
- Article
- Supervised learning of protein variant effects across large-scale mutagenesis datasets.Protein science : a publication of the Protein Society · 2026Article
- The evolving landscape of pharmacogenomics: Current achievements and future directions.Pharmacological reviews · 2026Review
- Deconvolving mutation effects on protein stability and function with disentangled protein language models.bioRxiv : the preprint server for biology · 2026Article
- A near-complete map of human cytosolic degrons and their relevance for disease.Science advances · 2026Article
- Multiplexed assays of variant effect for clinical variant interpretation.Nature reviews. Genetics · 2026Review
- Multiplex and multimodal mapping of variant effects in secreted proteins via MultiSTEP.Nature structural & molecular biology · 2025Article
- Clinical Utility and Cost-Effectiveness of Pretreatment NUDT15 Pharmacogenetic Testing to Prevent Thiopurine-Induced Myelosuppression: A Genotype-First Reverse Phenotyping Cohort Study Within the UK NIHR Inflammatory Bowel Disease Bioresource.Alimentary pharmacology & therapeutics · 2025Article
- Review
- PreMode predicts mode-of-action of missense variants by deep graph representation learning of protein sequence and structural context.Nature communications · 2025Article
- A probabilistic graphical model for estimating selection coefficients of nonsynonymous variants from human population sequence data.Nature communications · 2025Article
- Pharmacogenomic Testing in the Clinical Laboratory: Historical Progress and Future Opportunities.Annals of laboratory medicine · 2025Review
- Clinical Actionability of the NUDT15 *4 (p.R139H) Allele and Its Association With Hispanic Ethnicity.Clinical pharmacology and therapeutics · 2025Article
- Translating pharmacogenomic sequencing data into drug response predictions-How to interpret variants of unknown significance.British journal of clinical pharmacology · 2025Review
- Multiplex, multimodal mapping of variant effects in secreted proteins.bioRxiv : the preprint server for biology · 2025Article
11 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
32 authors at 14 institutions in 11 countries.
Chase C SuiterDepartment of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN 38105.
Takaya MoriyamaDepartment of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN 38105.
Kenneth A MatreyekDepartment of Genome Sciences, University of Washington, Seattle, WA 98195.
Wentao YangDepartment of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN 38105.
Emma Rose ScalettiDepartment of Biochemistry and Biophysics, Arrhenius Laboratories for Natural Sciences, Stockholm University, 106 91 Stockholm, Sweden.
Rina NishiiDepartment of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN 38105.
Wenjian YangDepartment of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN 38105.ORCID 0000-0002-7305-5649
Keito HoshitsukiDepartment of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN 38105.
Minu SinghDepartment of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education & Research, 160012 Chandigarh, India.
Amita TrehanDepartment of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education & Research, 160012 Chandigarh, India.
Chris ParishDepartment of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN 38105.
Colton SmithDepartment of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN 38105.
Lie LiDepartment of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN 38105.
Deepa BhojwaniDepartment of Pediatrics, Children's Hospital of Los Angeles, Los Angeles, CA 90027.
Liz Y P YuenDepartment of Pathology, Hong Kong Children's Hospital, Hong Kong.
Chi-Kong LiDepartment of Paediatrics, The Chinese University of Hong Kong, Hong Kong.
Chak-Ho LiDepartment of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, Hong Kong.
Yung-Li YangDepartment of Laboratory Medicine and Pediatrics, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei 10617, Taiwan.
Gareth J WalkerDepartment of Gastroenterology, Royal Devon and Exeter Hospital NHS Foundation Trust, Exeter EX2 5DW, England.
James R GoodhandDepartment of Gastroenterology, Royal Devon and Exeter Hospital NHS Foundation Trust, Exeter EX2 5DW, England.
Nicholas A KennedyDepartment of Gastroenterology, Royal Devon and Exeter Hospital NHS Foundation Trust, Exeter EX2 5DW, England.
Federico Antillon KlussmannUnidad Nacional de Oncología Pediátrica, Guatemala City 01011, Guatemala.
Smita BhatiaDivision of Pediatric Hematology/Oncology, Institute for Cancer Outcomes and Survivorship, School of Medicine, University of Alabama, Birmingham, AL 35294.
Mary V RellingDepartment of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN 38105.
Motohiro KatoDepartment of Pediatric Hematology and Oncology Research, National Center for Child Health and Development, Tokyo 157-8535, Japan.
Hiroki HoriDepartment of Pediatrics, Mie University Graduate School of Medicine, Mie 514-8507, Japan.
Prateek BhatiaDepartment of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education & Research, 160012 Chandigarh, India.
Tariq AhmadDepartment of Gastroenterology, Royal Devon and Exeter Hospital NHS Foundation Trust, Exeter EX2 5DW, England.
Allen E J YeohCentre for Translational Research in Acute Leukaemia, Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117599.
Pål StenmarkDepartment of Biochemistry and Biophysics, Arrhenius Laboratories for Natural Sciences, Stockholm University, 106 91 Stockholm, Sweden.ORCID 0000-0003-4777-3417
Douglas M FowlerDepartment of Genome Sciences, University of Washington, Seattle, WA 98195.
Jun J YangDepartment of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN 38105; jun.yang@stjude.org.
St. Jude Children's Research Hospital · USUniversity of Exeter · GBPost Graduate Institute of Medical Education and Research · INChinese University of Hong Kong · HKStockholm University · SECanadian Institute for Advanced Research · CAChildren's Hospital of Los Angeles · USLiga Nacional Contra el Cáncer · GTMie University · JPNational Center For Child Health and Development · JPNational Taiwan University Hospital · TWNational University of Singapore · SGUniversity of Alabama at Birmingham · USUniversity of Washington · US
Funding
NCTN BIQSFP ANBL1531 (NRT)U10CA180886 · NCI · PUBLIC HEALTH INSTITUTE · PI Douglas S. Hawkins · 2014 to 2026
$390.6MCOG FOREIGN ACCRUALU10CA098543 · NCI · NATIONAL CHILDHOOD CANCER FOUNDATION · PI ADAMSON, PETER C. · 2003 to 2013
$335.5MViral Vector Technology (VVTSR)P30CA021765 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI CHARLES ROBERTS · 1985 to 2026
$166.9MCOG SDMC - Statistics CoreU10CA180899 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI TODD A ALONZO · 2014 to 2026
$132.8MChildren's Oncology Group Statistics &Data Center GrantU10CA098413 · NCI · UNIVERSITY OF NEBRASKA MEDICAL CENTER · PI DEVIDAS, MEENAKSHI · 2003 to 2013
$67.5MCommunity Clinical Oncology Program Research BaseU10CA095861 · NCI · NATIONAL CHILDHOOD CANCER FOUNDATION · PI POLLOCK, BRAD H · 2002 to 2013
$19.5MCPML - Project 3: Genome-wide Studies of Adverse EffectsP50GM115279 · NIGMS · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI LOH, MIGNON LEE-CHEUN, RELLING, MARY V · 2015 to 2019
$15.1MPROFESSIONAL ONCOLOGY EDUCATION PROGRAMR25CA023944 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI SUZANNE A. GRONEMEYER · 1986 to 2026
$8.3MEthnic Differences in Survival after Childhood ALLR01CA096670 · NCI · CITY OF HOPE/BECKMAN RESEARCH INSTITUTE · PI BHATIA, SMITA · 2004 to 2009
$2.7MGenetics-guided Individualization of Thiopurine TherapyR01GM118578 · NIGMS · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI YANG, JUN J. · 2017 to 2020
$2.2MNCI NIH HHS P30 CA021765NCI NIH HHS R01 CA096670NCI NIH HHS R25 CA023944NCI NIH HHS U10 CA095861NCI NIH HHS U10 CA098413NCI NIH HHS U10 CA098543NCI NIH HHS U10 CA180886NCI NIH HHS U10 CA180899NIGMS NIH HHS P50 GM115279NIGMS NIH HHS R01 GM118578
Abstract
As a prototype of genomics-guided precision medicine, individualized thiopurine dosing based on pharmacogenetics is a highly effective way to mitigate hematopoietic toxicity of this class of drugs. Recently,
Indexed as
Pharmacogenomic VariantsAllelesAmino Acid SubstitutionAntimetabolitesDose-Response Relationship, DrugEndpoint DeterminationEnzyme StabilityHEK293 CellsHumansMercaptopurineMutation, MissenseNudix HydrolasesPrecision MedicineProtein Conformation, alpha-HelicalPyrophosphatasesRiskAntimetabolitesMercaptopurineNudix HydrolasesNUDT15 protein, humanPyrophosphatasesmassively parallel variant function assayNUDT15pharmacogeneticsthiopurines
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.