Results 161 to 170 of about 15,343 (276)

Advantages of Exome Sequencing Over Panel Testing for Individuals With a Seizure Indication

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective Our aim was to investigate the advantages of exome sequencing versus panel testing for patients with unexplained seizures. Methods We reviewed the diagnostic outcomes of exome sequencing by a commercial genetics laboratory for more than 16 000 individuals with a clinical history of seizures or suspected seizures.
Michelle M. Morrow, Elizabeth Butler, Melanie P. Napier, Lindsay Havens‐Dyer, Annabelle Tuttle, Patricia C. Lopes, Britt A. Johnson, Paul Kruszka, Kirsty McWalter   +8 more
wiley   +1 more source

Accurate Runs of Homozygosity Estimation From Low Coverage Genome Sequences in Non-Model Species. [PDF]

Mol Ecol Resour
Taylor RS, Manseau M, Wilson PJ.
europepmc   +1 more source

Lower Dose‐Normalized Tacrolimus Exposure in CYP3A5*6 vs. *3 Loss‐of‐Function Allele Carriers: A Longitudinal Retrospective Real‐World Study in Kidney Transplant Recipients

Clinical Pharmacology &Therapeutics, EarlyView.
Pharmacogenomic research has historically focused on individuals of European ancestry, leading to the underrepresentation of genetic variants common in non‐European populations. This bias is exemplified by CYP3A5*6, a functionally consequential variant common in individuals of African ancestry (MAF: 11–19%) but virtually absent in Europeans (MAF: 0.15%)
Amar D. Levens, Dirk Jan A. R. Moes, Yanick Boer, Aiko P. J. de Vries, Dorottya K. de Vries, Danny van der Helm, Soufian Meziyerh, Dave L. Roelen, Stefan Böhringer, Teun Van Gelder, Jesse J. Swen   +10 more
wiley   +1 more source

Optimising Genome-Wide Detection of Runs of Homozygosity: Impacts of Reference Genome Quality and Sequencing Parameters on Inbreeding Assessment. [PDF]

Mol Ecol Resour
Shi M, Li H, Shafer ABA, Lan T.
europepmc   +1 more source

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Thiopurine Dosing Based on TPMT and NUDT15 Genotypes: 2025 Update

Clinical Pharmacology &Therapeutics, EarlyView.
Thiopurine methyltransferase (TPMT) and Nudix hydrolase 15 (NUDT15) are key enzymes that catabolize thiopurines. Decreased or no‐function alleles in TPMT and NUDT15 are associated with reduced or no enzyme activity and predictive of pronounced adverse effects, including severe myelosuppression, that may occur among individuals treated with standard ...
Maud Maillard, Matthias Schwab, Michelle Whirl‐Carrillo, Ann M. Moyer, Guilherme Suarez‐Kurtz, Ching‐Hon Pui, C. Michael Stein, Teri E. Klein, Claire Spahn, Sooyeon Kwon, Juanda Leo Hartono, Nanne K. de Boer, Tariq Ahmad, Federico Guillermo Antillon‐Klussmann, Kelly E. Caudle, Motohiro Kato, Allen E. J. Yeoh, Kjeld Schmiegelow, Jun J. Yang   +18 more
wiley   +1 more source

Genomic Scan for Runs of Homozygosity and Identification of Candidate Genes Under Domestication in Fengjing Pigs. [PDF]

Life (Basel)
Ni L, Gan H, Gu Z, Li S, Zhang J, Zhou C, Wang X, Xu P.   +7 more
europepmc   +1 more source

Genomic Characterization of Peruvian Creole Goats: Insights into Population Structure and Runs of Homozygosity. [PDF]

Animals (Basel)
Corredor FA, Godoy-Padilla D, Sessarego EA, Temoche-Socola V, Paredes Chocce ME, Escobar Robledo H, Ramírez Antaurco MF, Burgos-Paz W, Ruiz J, Cruz J, Mulim HA, Oliveira HR.   +11 more
europepmc   +1 more source

Behavioral and epileptic phenotypes in a CHD2‐related developmental delay model

Epilepsia, EarlyView.
Abstract Objective Heterozygous loss‐of‐function mutations in the CHD2 gene, encoding chromodomain helicase DNA‐binding protein 2, are associated with severe childhood onset epilepsy, global developmental delay, and autistic features. Animal models that accurately recapitulate human phenotypes are crucial for understanding rare neurodevelopmental ...
Anat Mavashov, Shaked Turk, Yael Sarusi, Marina Brusel, Rotem Ben Tov Perry, Shir Quinn, Yael Almog, Karni Vilian, Mor Yam, Igor Ulitsky, Moran Rubinstein   +10 more
wiley   +1 more source

Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases. [PDF]

Genet Med Open
Sivakumaran TA, Azab B, Hershman E, Sivakumaran A, Friedman NR, Raz D, Neilson D, Grebe TA.   +7 more
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source