Detalhe da pesquisa
1.
The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families.
Am J Hum Genet
; 110(12): 2029-2041, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38006881
2.
Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program.
Genet Med
; 26(1): 101011, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37897232
3.
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Genet Med
; 25(9): 100880, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37158195
4.
Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.
Clin Genet
; 104(2): 210-225, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37334874
5.
Detection of mosaic variants using genome sequencing in a large pediatric cohort.
Am J Med Genet A
; 191(3): 699-710, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36563179
6.
Elective genetic testing: Genetics professionals' perspectives and practices.
J Genet Couns
; 32(3): 607-617, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36575824
7.
Clinical genetic counseling and translation considerations for polygenic scores in personalized risk assessments: A Practice Resource from the National Society of Genetic Counselors.
J Genet Couns
; 32(3): 558-575, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36617640
8.
Perspectives of diverse Spanish- and English-speaking patients on the clinical use of polygenic risk scores.
Genet Med
; 24(6): 1217-1226, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35380538
9.
GenomeDiver: a platform for phenotype-guided medical genomic diagnosis.
Genet Med
; 23(10): 1998-2002, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113009
10.
GUÍA: a digital platform to facilitate result disclosure in genetic counseling.
Genet Med
; 23(5): 942-949, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33531665
11.
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
12.
Development and preliminary evaluation of an online educational video about whole-genome sequencing for research participants, patients, and the general public.
Genet Med
; 18(5): 501-12, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26334178
13.
Impact of Genomic Counseling on Informed Decision-Making among ostensibly Healthy Individuals Seeking Personal Genome Sequencing: the HealthSeq Project.
J Genet Couns
; 25(5): 1044-53, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26898680
14.
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
medRxiv
; 2023 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36993157
15.
The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing.
Pilot Feasibility Stud
; 9(1): 47, 2023 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36949526
16.
The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic counseling in racially and ethnically diverse families.
medRxiv
; 2023 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37461450
17.
Commentary: "My Identical Twin Sequenced Our Genome".
J Genet Couns
; 26(2): 281-282, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28124750
18.
Development and Validation of a Comprehensive Genomics Knowledge Scale.
Public Health Genomics
; 24(5-6): 291-303, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34058740
19.
Genomic Screening Identifies Individuals at High Risk for Hereditary Transthyretin Amyloidosis.
J Pers Med
; 11(1)2021 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33467513
20.
"Is that something that should concern me?": a qualitative exploration of parent understanding of their child's genomic test results.
HGG Adv
; 2(2)2021 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33884375