Detalhe da pesquisa
1.
Establishing the Medical Actionability of Genomic Variants.
Annu Rev Genomics Hum Genet
; 23: 173-192, 2022 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35363504
2.
Implementing Evidence-Based Assertions of Clinical Actionability in the Context of Secondary Findings: Updates from the ClinGen Actionability Working Group.
Genet Med
; : 101164, 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38757444
3.
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines.
J Med Genet
; 60(6): 568-575, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36600593
4.
EGFR internal tandem duplications in fusion-negative congenital and neonatal spindle cell tumors.
Genes Chromosomes Cancer
; 62(1): 17-26, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35801295
5.
Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
Am J Hum Genet
; 107(4): 596-611, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32853555
6.
ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents.
Genet Med
; 24(6): 1328-1335, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35341655
7.
Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant.
Rheumatology (Oxford)
; 62(1): 347-359, 2022 12 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35412596
8.
Detection of brain somatic variation in epilepsy-associated developmental lesions.
Epilepsia
; 63(8): 1981-1997, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35687047
9.
Management of Patients With Common Bile Duct Dilatation Without a Sonographic Evident Cause: Evaluating the Yield of Subsequent Magnetic Resonance Imaging and Findings Correlated With Causative Pancreaticobiliary Pathology.
J Comput Assist Tomogr
; 46(2): 163-168, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35297572
10.
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Hum Mutat
; 42(3): 223-236, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300245
11.
Discovery of clinically relevant fusions in pediatric cancer.
BMC Genomics
; 22(1): 872, 2021 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34863095
12.
Glanzmann thrombasthenia: genetic basis and clinical correlates.
Haematologica
; 105(4): 888-894, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32139434
13.
Expert and lay perspectives on burden, risk, tolerability, and acceptability of clinical interventions for genetic disorders.
Genet Med
; 21(11): 2561-2568, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31028355
14.
Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework.
Genet Med
; 21(7): 1507-1516, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30523343
15.
Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels.
Genet Med
; 21(7): 1497-1506, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30504931
16.
Factors influencing NCGENES research participants' requests for non-medically actionable secondary findings.
Genet Med
; 21(5): 1092-1099, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30237575
17.
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.
Genet Med
; 21(4): 987-993, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30181607
18.
Racial Categorization Predicts Implicit Racial Bias in Preschool Children.
Child Dev
; 90(1): 162-179, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28605007
19.
Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.
Hum Mutat
; 39(11): 1542-1552, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311369
20.
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
Hum Mutat
; 39(11): 1614-1622, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311389