Results 171 to 180 of about 215,860 (303)

Clinical relevance of mosaic variants detected by exome sequencing. [PDF]

J Allergy Clin Immunol
Ghosh R, Fazal Z, Oler AJ, Tokita MJ, Lewis KL, Paul AJ, Schmitz EG, Saucier N, Yan J, Kamen M, Seifert BA, NIAID Centralized Sequencing Program,, Klion AD, Khoury P, Delmonte OM, Notarangelo LD, Freeman AF, Zerbe CS, Uzel G, Metcalfe DD, Komarow HD, Carter MC, McDermott DH, Murphy PM, Olivier KN, Fuss I, Strober W, Rao VK, Bergerson JRE, Almeida de Jesus A, Goldbach-Mansky R, Al-Herz W, Holland SM, Cooper MA, Similuk MN, Walkiewicz MA.   +35 more
europepmc   +1 more source

The Role of Microbiota Metabolites Propionic Acid, p‐Cresol, and 4‐Ethylphenyl Sulfate in Autism Susceptibility: A Systematic Review

Autism Research, EarlyView.
ABSTRACT The etiopathogenesis of Autism Spectrum Disorder (ASD) encompasses complex interactions between genetic and environmental risk factors. The high prevalence of gastrointestinal disorders in autistic individuals has propelled a growing interest in the possible involvement of gut dysbiosis in ASD pathogenesis.
Laura Sandoni, Lisa Asta, Nicole Giompaolo, Rinvil Renaldi, Alberto Amaretti, Maddalena Rossi, Antonio M. Persico   +6 more
wiley   +1 more source

Whole exome sequencing: a new era in prenatal diagnostics. [PDF]

J Transl Med
Shi P, Wang C, Xia Y, Li Z, Gao Z, Kong X.   +5 more
europepmc   +1 more source

Precision medicine in paediatrics: Progress and priorities

British Journal of Clinical Pharmacology, EarlyView.
Precision medicine is revolutionizing personalized healthcare, advancing both diagnostics and therapeutics at an unprecedented pace. Reviewing the paediatric applications of pharmacometrics, pharmacogenomics and advanced therapy medicinal products highlights not only the relevance of these exciting innovations to frontline care but also the significant
Nicola Husain, Claire Booth, Joseph F. Standing, Charlotte I. S. Barker   +3 more
wiley   +1 more source

The ageing holobiont: crosstalk between telomere dynamics, oxidative stress and the gut microbiome

Biological Reviews, EarlyView.
ABSTRACT The gut tissue is at the frontline of early onset of ageing. It exhibits high cell turnover rates and rapid telomere shortening, which can have systemic effects on the developing or senescing organism. We conducted a literature review of studies on the crosstalk between telomere length dynamics, telomerase activity, oxidative stress, and gut ...
Michael L. Pepke, Søren B. Hansen, Morten T. Limborg   +2 more
wiley   +1 more source

Diagnostic Genetic Findings From Exome Sequencing in a Cohort of 1,109 Children With Epilepsy. [PDF]

Neurol Genet
Wu F, Ji X, Cheng P, Zhao S, Feng S, Liu W, Chen J, Zhang X, Wang H, Chen Q.   +9 more
europepmc   +1 more source

Identification of rare variants in Alzheimer\u27s disease [PDF]

, 2014
Cruchaga, Carlos, Lord, Jenny, Lu, Alexander J   +2 more
core   +1 more source

Whole Exome Sequencing [PDF]

, 2020
openaire   +1 more source

CYP2C19 Genotype is Associated with Citalopram Treatment Outcomes in a Real‐World Setting

Clinical Pharmacology &Therapeutics, EarlyView.
CYP2C19 metabolizes various selective serotonin reuptake inhibitors (SSRIs) and genetic CYP2C19 variants are associated with SSRI tolerability and response. Yet, whether CYP2C19 variability also impacts citalopram response remained unclear. We here evaluated associations between CYP2C19 genotypes and citalopram prescription data of 11,079 patients from
Yoomi Park, Yitian Zhou, Volker M. Lauschke   +2 more
wiley   +1 more source

Genomic Insights Into Risperidone Treatment Outcomes in Children and Adolescents: Experience From a Psychiatric Hospital Serving Rural Youth

Clinical Pharmacology &Therapeutics, EarlyView.
Risperidone is a commonly used antipsychotic for treating psychiatric illness in children and adolescents. There is a large variability in risperidone response and discontinuation rates remain high. Pharmacogenomics offers the opportunity to improve risperidone outcomes, yet studies in pediatric populations are limited.
Jack W. Staples, Shayna R. Killam, Karen E. Brown, Rachel Dalton, Elizabeth Sather, Qiang Chen, Joshua Loveland, Corbin Schwanke, Abdallah F. Elias, Kristin L. Bigos, Erica L. Woodahl   +10 more
wiley   +1 more source