148 results on '"Collins, Christin"'
Search Results
2. Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test
3. Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients
4. Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing
5. Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features.
6. The role of clinical response to treatment in determining pathogenicity of genomic variants
7. At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children
8. Developmental Delay: Gene Testing
9. Response to Biesecker et al.
10. P729: Identification of multiple diagnoses in pediatric patients through genome sequencing
11. P714: Genome screening of newborns: Sequencing is easy, assessing the clinical utility of genomic findings uncovered in asymptomatic children is challenging
12. P696: Case presentation: Co-segregation of a rare GLA variant of uncertain significance within 2 multiplex families facilitates variant reclassification to pathogenic
13. P679: Ultrarapid whole genome sequencing facilitates early definitive diagnosis of rare genetic disorders
14. P638: Genomic breakpoint analysis facilitates identification of complex rearrangements and re-classification of non-tandem duplications in the DMD gene
15. P599: Beyond single nucleotide variants and copy number variations: Spinal muscular atrophy and repeat expansion disorders screening by whole genome sequencing
16. P581: Comparison of GLA variant profile in newborn screening confirmatory testing and diagnostic testing for Fabry disease*
17. Aesthetic Effect of Steri-Strip Orientation on Healing and Scar Appearance in Breast Surgery: Preliminary Results
18. P567: Comprehensive genetic testing gives a high diagnostic yield in the Indian sub-continent compared to the western population
19. P157: Efficiency of genome sequencing in establishing molecular diagnosis in undiagnosed patients
20. P426: Recognizing the promise and potential pitfalls of genomic medicine through routine rapid whole genome sequencing
21. P443: Genetic screening of a reportedly healthy population for familial hypercholesterolemia, hereditary breast and ovarian cancer syndrome, and Lynch syndrome
22. P389: Real-world evidence demonstrating why genome sequencing should be recommended as the first-tier genetic test*
23. P566: Importance Of parental segregation studies and its role in variant classification
24. P425: Unparalleled power of genome sequencing in screening ostensibly healthy newborns and children: Findings from the first real-world dataset
25. P502: How does multiomics help variant reclassification?
26. P441: Genomic and biochemical profile of pseudodeficiency in lysosomal storage disorders
27. Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy
28. eP357: Molecular diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD) using optical genome mapping
29. eP331: Next-generation sequencing testing in identification and differential diagnosis of hereditary anemia due to erythrocyte membrane disorders, enzymopathies and related disorders
30. eP371: A diverse set of case presentation highlight the power of genome sequencing – What next?
31. eP356: Exome sequencing expands the sensitivity and specificity of identification of sequence variants and CNVs in phenotypic females with DSD
32. eP355: Repeat expansion disorders screening by genome sequencing: Strategy and stumbling blocks
33. eP414: Diagnostic yield and clinical utility of nephrolithiasis and primary hyperoxaluaria sequencing panels
34. eP335: Genetic testing for APOB, LDLR, PCSK9, and LDLRAP1 suggest that FH testing may be underutilized
35. A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield
36. Genome and exome analysis for detection of coding and non-coding sequencing and copy number variants in disorders of sexual development
37. Concomitant mitochondrial genome coverage in whole exome and whole genome sequencing
38. Genetic screening of a reportedly healthy population for familial hypercholesterolemia
39. Genetic basis of oculopharyngeal muscular dystrophy: detection of alanine repeats in PABPN1 gene by next generation sequencing
40. Towards implementation whole genome sequencing as a first tier test in genomic testing
41. Global approach to prenatal testing
42. Comment on “Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients”
43. Molecular Pathways Altered by Insulin B9-23 Immunization
44. The meaning and uses of privatization: the case of the Ethiopian developmental state
45. Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar
46. 15. A validation study of copy number variant (CNVs) detection to replace constitutional microarray from low resolution whole genome sequencing data
47. Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features
48. Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis
49. A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield
50. Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
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