Building the foundation for genomics in precision medicine

SJ Aronson, HL Rehm - Nature, 2015 - nature.com
Precision medicine has the potential to profoundly improve the practice of medicine.
However, the advances required will take time to implement. Genetics is already being used …

Acute lymphoblastic leukaemia

H Inaba, M Greaves, CG Mullighan - The Lancet, 2013 - thelancet.com
Acute lymphoblastic leukaemia occurs in both children and adults but its incidence peaks
between 2 and 5 years of age. Causation is multifactorial and exogenous or endogenous …

Multiplex assessment of protein variant abundance by massively parallel sequencing

KA Matreyek, LM Starita, JJ Stephany, B Martin… - Nature …, 2018 - nature.com
Determining the pathogenicity of genetic variants is a critical challenge, and functional
assessment is often the only option. Experimentally characterizing millions of possible …

NUDT15 polymorphisms alter thiopurine metabolism and hematopoietic toxicity

T Moriyama, R Nishii, V Perez-Andreu, W Yang… - Nature …, 2016 - nature.com
Widely used as anticancer and immunosuppressive agents, thiopurines have narrow
therapeutic indices owing to frequent toxicities, partly explained by TPMT genetic …

Inherited NUDT15 Variant Is a Genetic Determinant of Mercaptopurine Intolerance in Children With Acute Lymphoblastic Leukemia

JJ Yang, W Landier, W Yang, C Liu… - Journal of clinical …, 2015 - ascopubs.org
Purpose Mercaptopurine (MP) is the mainstay of curative therapy for acute lymphoblastic
leukemia (ALL). We performed a genome-wide association study (GWAS) to identify …

PharmGKB: a worldwide resource for pharmacogenomic information

JM Barbarino, M Whirl‐Carrillo… - … : Systems Biology and …, 2018 - Wiley Online Library
As precision medicine becomes increasingly relevant in healthcare, the field of
pharmacogenomics (PGx) also continues to gain prominence in the clinical setting. Leading …

CPIC: clinical pharmacogenetics implementation consortium of the pharmacogenomics research network

MV Relling, TE Klein - Clinical Pharmacology & Therapeutics, 2011 - Wiley Online Library
The slow rate at which pharmacogenetic tests are being adopted in clinical practice is partly
due to the lack of specific guidelines on how to adjust medications on the basis of the …

Preemptive clinical pharmacogenetics implementation: current programs in five US medical centers

HM Dunnenberger, KR Crews… - Annual review of …, 2015 - annualreviews.org
Although the field of pharmacogenetics has existed for decades, practioners have been slow
to implement pharmacogenetic testing in clinical care. Numerous publications describe the …

Synthesis of biologically active molecules through multicomponent reactions

D Insuasty, J Castillo, D Becerra, H Rojas, R Abonia - Molecules, 2020 - mdpi.com
Focusing on the literature progress since 2002, the present review explores the highly
significant role that multicomponent reactions (MCRs) have played as a very important tool …

Pediatric acute lymphoblastic leukemia: where are we going and how do we get there?

CH Pui, CG Mullighan, WE Evans… - Blood, The Journal of …, 2012 - ashpublications.org
Improved supportive care, more precise risk stratification, and personalized chemotherapy
based on the characteristics of leukemic cells and hosts (eg, pharmacokinetics and …