Detalhe da pesquisa
1.
A Randomized Trial of Two Remote Health Care Delivery Models on the Uptake of Genetic Testing and Impact on Patient-Reported Psychological Outcomes in Families With Pancreatic Cancer: The Genetic Education, Risk Assessment, and Testing (GENERATE) Study.
Gastroenterology
; 166(5): 872-885.e2, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38320723
2.
Introduction of the genetic counseling profession by teachers in BIPOC-majority high schools.
J Genet Couns
; 32(2): 411-424, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36330613
3.
Impact of Genetic Counseling on Patient-Reported Electronic Cancer Family History Collection.
J Natl Compr Canc Netw
; 20(8): 898-905.e2, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35948032
4.
A randomized controlled trial of an online health tool about Down syndrome.
Genet Med
; 23(1): 163-173, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32879436
5.
Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study.
Am J Med Genet A
; 173(6): 1539-1545, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28332275
6.
Correction: A randomized controlled trial of an online health tool about Down syndrome.
Genet Med
; 23(1): 236, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33169000
7.
Rapid clinical deterioration in an individual with Down syndrome.
Am J Med Genet A
; 170(7): 1899-902, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27149638
8.
Detecting celiac disease in patients with Down syndrome.
Am J Med Genet A
; 170(12): 3098-3105, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27605215
9.
Down syndrome: Cognitive and behavioral functioning across the lifespan.
Am J Med Genet C Semin Med Genet
; 169(2): 135-49, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25989505
10.
National down syndrome patient database: Insights from the development of a multi-center registry study.
Am J Med Genet A
; 167A(11): 2520-6, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26249752
11.
Development and evaluation of INT2GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome.
Front Oncol
; 13: 1284690, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38344144
12.
An optimized protocol for evaluating pathogenicity of VHL germline variants in patients suspected with von Hippel-Lindau syndrome: Using somatic genome to inform the role of germline variants.
MethodsX
; 9: 101761, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35774415
13.
Vulvar Melanoma in association with germline MITF p.E318K variant.
Cancer Genet
; 262-263: 102-106, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35220194
14.
Clonal Hematopoiesis and Mosaicism Revealed by a Multi-Tissue Analysis of Constitutional TP53 Status.
Cancer Epidemiol Biomarkers Prev
; 31(8): 1621-1629, 2022 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35654360
15.
An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes.
Front Oncol
; 12: 942741, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36091175
16.
Assessment of genomic alterations in non-syndromic von Hippel-Lindau: Insight from integrating somatic and germline next generation sequencing genomic data.
Data Brief
; 39: 107653, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34934780
17.
Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results.
Eur J Med Genet
; 64(12): 104359, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34628056
18.
Evaluation of TP53 Variants Detected on Peripheral Blood or Saliva Testing: Discerning Germline From Somatic TP53 Variants.
JCO Precis Oncol
; 5: 1677-1686, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34994652
19.
Novel Models of Genetic Education and Testing for Pancreatic Cancer Interception: Preliminary Results from the GENERATE Study.
Cancer Prev Res (Phila)
; 14(11): 1021-1032, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34625409
20.
Novel Pathogenic Germline Variant of the Adenomatous Polyposis Coli (APC) Gene, p.S2627Gfs*12 Identified in a Mild Phenotype of APC-Associated Polyposis: A Case Report.
Am J Case Rep
; 21: e927293, 2020 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33303731