Search Results - "Abouelhoda, Mohammed"
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Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population
Published in PloS one (28-01-2022)“…It is well documented that drug responses are related to Absorption, Distribution, Metabolism, and Excretion (ADME) characteristics of individual patients…”
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Large-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi population
Published in Human genomics (25-03-2024)“…SLCO1B1 plays an important role in mediating hepatic clearance of many different drugs including statins, angiotensin-converting enzyme inhibitors,…”
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Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients
Published in Npj genomic medicine (14-02-2019)“…Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding disorder. Around 490 mutations in ITGA2B and ITGB3 genes were reported. We aimed to use…”
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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
Published in American journal of human genetics (06-06-2019)“…We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of…”
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Informing Clinical Decision and Policy Making in Blood Related Disorders Using Targeted Next Generation Sequencing
Published in Blood (13-11-2019)“…Decision making in the public healthcare system is heavily invested in screening and preventative medicine in addition to the translation of national…”
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Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families
Published in Nature communications (29-08-2023)“…Despite large sequencing and data sharing efforts, previously characterized pathogenic variants only account for a fraction of Mendelian disease patients,…”
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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
Published in American journal of human genetics (03-10-2019)Get full text
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