Associated Papers
Genetic variants in patients with multiple arterial aneurysms.
Körfer D et al.
Langenbeck's Archives of Surgery, 2024
In utero tumor development and identification of CTNNB1 mutation in a newborn case of ossifying renal tumor of infancy.
Kasai S et al.
Pediatric Blood & Cancer, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population.
Rouskas K et al.
Bmc Genomics, 2023
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Immanuel SRC et al.
Npj Systems Biology and Applications, 2021
Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.
Aboul-Soud MAM et al.
Saudi Journal of Biological Sciences, 2021
Targeted next generation sequencing as a tool for precision medicine.
Gulilat M et al.
Bmc Medical Genomics, 2019
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
Pharmacogenetic Variation in Over 100 Genes in Patients Receiving Acenocumarol.
Gonzalez-Covarrubias V et al.
Frontiers in Pharmacology, 2017
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
Ilyas M et al.
Bmc Genomics, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population.
Rodriguez-Flores JL et al.
Plos One, 2012
Characterization of sulfoxygenation and structural implications of human flavin-containing monooxygenase isoform 2 (FMO2.1) variants S195L and N413K.
Krueger SK et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
The potentially deleterious functional variant flavin-containing monooxygenase 2*1 is at high frequency throughout sub-Saharan Africa.
Veeramah KR et al.
Pharmacogenetics and Genomics, 2008
Mammalian flavin-containing monooxygenases: structure/function, genetic polymorphisms and role in drug metabolism.
Krueger SK et al.
Pharmacology & Therapeutics, 2005
Haplotype and functional analysis of four flavin-containing monooxygenase isoform 2 (FMO2) polymorphisms in Hispanics.
Krueger SK et al.
Pharmacogenetics and Genomics, 2005
Identification of novel variants of the flavin-containing monooxygenase gene family in African Americans.
Furnes B et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2003