210 results on '"Mester, Jessica"'
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2. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
3. Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants
4. Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
5. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
6. ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines
7. Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
8. Genotype-phenotype correlations among TP53 carriers: Literature review and analysis of probands undergoing multi-gene panel testing and single-gene testing
9. The Evolution of Constitutional Sequence Variant Interpretation
10. International consensus guidelines for constitutional sequence variant interpretation
11. Contributors
12. Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.
13. Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
14. Utility of Expedited Hereditary Cancer Testing in the Surgical Management of Patients with a New Breast Cancer Diagnosis
15. Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
16. PTEN Hamartoma Tumor Syndrome
17. Supplementary Figure 1 from A Novel Germline Mutation in BAP1 Predisposes to Familial Clear-Cell Renal Cell Carcinoma
18. Supplementary Methods from A Novel Germline Mutation in BAP1 Predisposes to Familial Clear-Cell Renal Cell Carcinoma
19. Supplementary Figure 2 from A Novel Germline Mutation in BAP1 Predisposes to Familial Clear-Cell Renal Cell Carcinoma
20. Supplementary Figure Legend from A Novel Germline Mutation in BAP1 Predisposes to Familial Clear-Cell Renal Cell Carcinoma
21. Data from A Novel Germline Mutation in BAP1 Predisposes to Familial Clear-Cell Renal Cell Carcinoma
22. Rare variants inPPFIA3cause delayed development, intellectual disability, autism, and epilepsy
23. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
24. Pulmonary arterial hypertension in a patient with Cowden syndrome and the PTEN mutation
25. Fibroblast testing can inform medical management in individuals with mosaic variants detected on hereditary cancer panels
26. Germline compound heterozygous poly-glutamine deletion in USF3 may be involved in predisposition to heritable and sporadic epithelial thyroid carcinoma
27. OP014: Fibroblast testing can inform medical management in individuals with mosaic variants detected on hereditary cancer panels
28. PTEN hamartoma tumor syndrome
29. Frequent Gastrointestinal Polyps and Colorectal Adenocarcinomas in a Prospective Series of PTEN Mutation Carriers
30. Germline PTEN, SDHB-D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden-like syndromes: An international, multicenter, prospective study
31. Cowden syndrome: Recognizing and managing a not-so-rare hereditary cancer syndrome
32. Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome
33. ClinGen Variant Curation Interface: A Variant Classification Platform for the Application of Evidence Criteria from ACMG/AMP Guidelines
34. Gastrointestinal polyposis and PTEN mutations: an under-acknowledged diagnostic criterion
35. Germline and somatic KLLN alterations in breast cancer dysregulate G2 arrest
36. When Overgrowth Bumps Into Cancer:: The PTEN-Opathies
37. Utility of PTEN Protein Dosage in Predicting for Underlying Germline PTEN Mutations among Patients Presenting with Thyroid Cancer and Cowden-Like Phenotypes
38. Should patients with Cowden syndrome undergo prophylactic thyroidectomy?
39. Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53
40. Incidence and Clinical Characteristics of Thyroid Cancer in Prospective Series of Individuals with Cowden and Cowden-Like Syndrome Characterized by Germline PTEN, SDH, or KLLN Alterations
41. The Evolution of Constitutional Sequence Variant Interpretation
42. Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants
43. Apparently Heterozygous TP53 Pathogenic Variants May Be Blood Limited in Patients Undergoing Hereditary Cancer Panel Testing
44. Perceptions of Licensure: A Survey of Michigan Genetic Counselors
45. Papillary Renal Cell Carcinoma Is Associated With PTEN Hamartoma Tumor Syndrome
46. With Regard to PTEN Promoter Testing for Hereditary Cancer Risk Assessment
47. Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.
48. Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel
49. ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation
50. Mosaic TP53 pathogenic variants on multi-gene hereditary cancer panel testing: Clinical characteristics and follow-up testing.
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