Results 161 to 170 of about 67,526 (234)

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

open access: yesClinical Genetics, Volume 109, Issue 4, Page 717-724, April 2026.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald   +10 more
wiley   +1 more source

Pharmacogenomics to optimise psychotropic prescribing: a survey of mental health professionals' perceptions, knowledge, and educational needs. [PDF]

open access: yesPharmacogenomics J
Panconesi D   +45 more
europepmc   +1 more source

Impact of Pharmacokinetic Gene Polymorphisms on Statin‐Induced Myotoxicity in Thai Patients Treated With Simvastatin

open access: yesClinical and Translational Science, Volume 19, Issue 4, April 2026.
ABSTRACT Statin‐induced myotoxicity (SIM) is a common adverse effect of simvastatin therapy, which can negatively impact patient adherence and treatment outcomes. This study aims to investigate the impacts of pharmacokinetic (PK) gene polymorphisms on SIM in Thai population treated with simvastatin.
Sayanit Tipnoppanon   +6 more
wiley   +1 more source

The role of pharmacogenomics in the discontinuation of psychotropic medication: a scoping review protocol. [PDF]

open access: yesHRB Open Res
Stollarova N   +5 more
europepmc   +1 more source

Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care

open access: yesInternational Journal of Laboratory Hematology, Volume 48, Issue 2, Page 295-304, April 2026.
ABSTRACT Sickle cell disease (SCD) is one of the most frequent monogenic diseases worldwide and a highly heterogeneous and complex disease. SCD care carries several challenges. This includes early and accurate diagnosis as well as optimal red blood cell transfusion matching in this population carrying a high risk of alloimmunization.
Thomas Pincez, Yves D. Pastore
wiley   +1 more source

ABCB1 Polymorphisms Influence on Temozolomide Resistance and Overall Survival in Glioblastoma Patients: A Systematic Review of Clinical Evidence

open access: yesJournal of Cellular and Molecular Medicine, Volume 30, Issue 7, April 2026.
ABSTRACT Glioblastoma (GB), defined as IDH‐wildtype CNS WHO grade 4 tumour according to the 2021 WHO classification of CNS tumours, remains a uniformly lethal malignancy in which the efficacy of temozolomide (TMZ) continues to be constrained by both intrinsic tumur biology and the pharmacological barrier imposed by the blood–brain barrier (BBB).
Fabiola De Luca   +7 more
wiley   +1 more source

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