138 results on '"Abou Tayoun, Ahmad N."'
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2. A draft human pangenome reference
3. The genomic landscape of rare disorders in the Middle East
4. A rapid whole-genome sequencing service for infants with rare diseases in the United Arab Emirates
5. Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss
6. Pan-conserved segment tags identify ultra-conserved sequences across assemblies in the human pangenome
7. Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations
8. Genomic medicine in the Middle East
9. Unequal global implementation of genomic newborn screening
10. Genetic variation in the Middle East—an opportunity to advance the human genetics field
11. Pan-conserved segment tags identify ultra-conserved sequences across assemblies in the human pangenome
12. A draft human pangenome reference
13. A multiplex PCR assay for the simultaneous detection of Chlamydia trachomatis, Neisseria gonorrhoeae, and Trichomonas vaginalis
14. Super-enhancer associated core regulatory circuits mediate susceptibility to retinoic acid in neuroblastoma cells
15. Super-enhancer associated core regulatory circuits mediate susceptibility to retinoic acid in neuroblastoma cells
16. Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss
17. A rapid RT-PCR assay for the detection of HIV-1 in human plasma specimens
18. Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations
19. Comprehensive Genomic Sequencing–Based Screening for Hearing Loss in the Neonatal Intensive Care Setting—Is It Time?
20. MicroRNAs as diagnostic markers for pancreatic ductal adenocarcinoma and its precursor, pancreatic intraepithelial neoplasm
21. Evaluating the impact of in silico predictors on clinical variant classification
22. Evaluating the impact ofin silicopredictors on clinical variant classification
23. Ceramide kinase regulates phospholipase C and phosphatidylinositol 4, 5, bisphosphate in phototransduction
24. Advances in Molecular Pathology
25. Molecular Pathology: Another Year of Innovation
26. Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
27. Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets
28. A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern
29. Automated Clinical Exome Reanalysis Reveals Novel Diagnoses
30. AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss
31. Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
32. Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants
33. Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing datasets
34. Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin
35. ExomeSlicer: a resource for the development and validation of exome-based clinical panels
36. Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation
37. Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations
38. Development of a rapid clinical TPMT genotyping assay
39. Sequencing-based diagnostics for pediatric genetic diseases: progress and potential
40. Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation
41. Understanding Genotypes and Phenotypes in Epileptic Encephalopathies
42. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.
43. Evaluating the thermostability of commercial fast real-time PCR master mixes
44. Democratizing Molecular Diagnostics for the Developing World
45. The Development and Validation of Clinical Exome-Based Panels Using ExomeSlicer
46. A Comprehensive Assay for CFTR Mutational Analysis Using Next-Generation Sequencing
47. A clinical PCR fragment analysis assay for TA repeat sizing in the UGT1A1 promoter region
48. A Comprehensive Assay for CFTR Mutational Analysis Using Next‐Generation Sequencing
49. Roles of the Drosophila SK Channel (dSK) in Courtship Memory
50. The Drosophila SK Channel (dSK) Contributes to Photoreceptor Performance by Mediating Sensitivity Control at the First Visual Network.
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