1,373 results on '"Biesecker, Leslie G."'
Search Results
2. Quantification of Proteus syndrome-associated lung disease
3. ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification
4. Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth
5. Derived myeloid lineage induced pluripotent stem as a platform to study human C-C chemokine receptor type 5Δ32 homozygotes
6. A dyadic approach to the delineation of diagnostic entities in clinical genomics
7. Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
8. Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies.
9. Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries
10. A commentary on actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes
11. Response to Kiel and Kozaric regarding “Comparison of Literature Mining Tools for Variant Classification: Through the Lens of Fifty RYR1 Variants” by Wermers et al.
12. Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants
13. NAA10 polyadenylation signal variants cause syndromic microphthalmia
14. A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers
15. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
16. The role of future-oriented affect in engagement with genomic testing results
17. Development of the Clinical Gestalt Assessment: a visual clinical global impression scale for Proteus syndrome
18. Dyadic concordance and associations of beliefs with intentions to learn carrier results from genomic sequencing
19. A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings
20. The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations
21. Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility
22. Hypertrichotic patches as a mosaic manifestation of Proteus syndrome
23. DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)
24. Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number
25. Roles of attitudes and injunctive norms in decisional conflict and disclosure following receipt of genome sequencing results
26. Strategic vision for improving human health at The Forefront of Genomics
27. A six-attribute classification of genetic mosaicism
28. SomatoSim: precision simulation of somatic single nucleotide variants
29. Cardiothoracic imaging findings of Proteus syndrome
30. Actionable exomic incidental findings in 6503 participants: challenges of variant classification
31. Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studies
32. Invited Commentary on “My Research Results: a program to facilitate return of clinically actionable genomic research findings” by Willis et al.
33. Redefining the Etiologic Landscape of Cerebellar Malformations
34. Hypothalamic Hamartomas: Evolving Understanding and Management
35. A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.
36. Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma
37. Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
38. Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12
39. Ethnic identity and engagement with genome sequencing research
40. Knowledge, motivations, expectations, and traits of an African, African-American, and Afro-Caribbean sequencing cohort and comparisons to the original ClinSeq® cohort
41. Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study
42. Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum
43. Health behaviors among unaffected participants following receipt of variants of uncertain significance in cardiomyopathy-associated genes
44. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
45. Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
46. 32 - Clinical Genomics—Genome Structure and Variation
47. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
48. Management of Secondary Genomic Findings
49. Genomic screening and genomic diagnostic testing—two very different kettles of fish
50. Genome-wide identification of dominant polyadenylation hexamers for use in variant classification.
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