Detalhe da pesquisa
1.
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
2.
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.
Am J Hum Genet
; 107(5): 932-941, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33108757
3.
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
4.
Response of Central Giant Cell Granuloma of the Jaw to Imatinib.
J Pediatr Hematol Oncol
; 45(5): 278-280, 2023 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36706268
5.
The Burden of COVID-19 on Caregivers of Children with Suspected Genetic Conditions: A Therapeutic Odyssey.
Phys Occup Ther Pediatr
; 43(3): 257-271, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36310386
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.
A review and definition of 'usual care' in genetic counseling trials to standardize use in research.
J Genet Couns
; 30(1): 42-50, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33278053
8.
Genomic knowledge in the context of diagnostic exome sequencing: changes over time, persistent subgroup differences, and associations with psychological sequencing outcomes.
Genet Med
; 22(1): 60-68, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31312045
9.
Correction: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Genet Med
; 22(8): 1426, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32555414
10.
An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Genet Med
; 22(5): 954-961, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31974414
11.
Referencing BRCA in hereditary cancer risk discussions: In search of an anchor in a sea of uncertainty.
J Genet Couns
; 29(6): 949-959, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31967382
12.
Correction: Genomic knowledge in the context of diagnostic exome sequencing: changes over time, persistent subgroup differences, and associations with psychological sequencing outcomes.
Genet Med
; 21(12): 2846, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31341244
13.
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
14.
An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.
J Pediatr
; 209: 68-76, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30851990
15.
An examination of the factors contributing to the expansion of subspecialty genetic counseling.
J Genet Couns
; 28(3): 616-625, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30706979
16.
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Genome Res
; 25(3): 305-15, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25637381
17.
The who, what, and why of research participants' intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study.
Genet Med
; 20(7): 760-769, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29261173
18.
Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges.
Genet Med
; 19(11): 1207-1216, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28518170
19.
A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.
Genet Med
; 18(5): 467-75, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26270767
20.
The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.
Am J Med Genet A
; 167A(9): 2176-81, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25920937