17 results on '"Ryan Taft"'
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2. P368: Novel mutation in ZIC3 in a Peruvian family with variable phenotype VACTERL-H association
3. P412: A heterozygous 287 kb deletion of the X chromosome in a Peruvian girl with dystrophinopathy
4. O35: Feasibility of expanded newborn screening using genome sequencing for early actionable conditions in a diverse city
5. P624: Performance and impact of clinical genome sequencing in patients with suspected rare genetic diseases in Peru
6. P636: Lp(a) genetic risk screening using genome sequencing
7. BRANCHED-CHAIN AMINO ACID TRANSAMINASE-1 (BCAT1) INVOLVEMENT IN NEURODEGENERATION: NEW INSIGHTS AND THERAPEUTIC IMPLICATIONS
8. P420: Development of a comprehensive cardiovascular disease whole genome sequencing test
9. O38: The impact of whole genome sequencing in a diverse global population of genetic disease patients
10. P471: Quad whole genome sequencing detects reciprocal copy number variants in affected siblings, consistent with familial translocation
11. P507: Implementation of automated pharmacogenomics reporting for a clinically validated whole genome sequencing test
12. P572: Detecting short tandem repeat expansions: Three-year experience with clinical whole genome sequencing (cWGS) for a rare and undiagnosed population
13. BRANCHED-CHAIN AMINO ACID TRANSAMINASE-1 (BCAT1) AS A NOVEL CANDIDATE GENE FOR PEDIATRIC NEURODEGENERATION
14. iHope Genetic Health: Enabling Genomic Medicine Across the Globe
15. eP329: Genome sequencing uncovers molecular cause in a case with epileptic encephalopathy
16. De novo missense variants in
17. Independent motile microplast formation correlates with glioma cell invasiveness.
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