Detalhe da pesquisa
1.
Toward a fine-scale population health monitoring system.
Cell
; 184(8): 2068-2083.e11, 2021 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33861964
2.
Personalized Medicine and the Power of Electronic Health Records.
Cell
; 177(1): 58-69, 2019 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30901549
3.
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
4.
Leveraging health systems data to characterize a large effect variant conferring risk for liver disease in Puerto Ricans.
Am J Hum Genet
; 108(11): 2099-2111, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34678161
5.
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
6.
Physician and informal care use explained by the Pediatric Quality of Life Inventory (PedsQL) in children with suspected genetic disorders.
Qual Life Res
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38743313
7.
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.
Hum Mutat
; 20232023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38084291
8.
Association of HSD17B13 and PNPLA3 With Liver Enzymes and Fibrosis in Hispanic/Latino Individuals of Diverse Genetic Ancestries.
Clin Gastroenterol Hepatol
; 21(10): 2578-2587.e11, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36610497
9.
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
10.
Returning integrated genomic risk and clinical recommendations: The eMERGE study.
Genet Med
; 25(4): 100006, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36621880
11.
Diverse and unselected adults with clinically relevant ACADS variants lack evidence of metabolic disease.
Mol Genet Metab
; 138(1): 106971, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36549199
12.
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
13.
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
14.
Elective genetic testing: Genetics professionals' perspectives and practices.
J Genet Couns
; 32(3): 607-617, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36575824
15.
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
16.
A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.
N Engl J Med
; 378(12): 1096-1106, 2018 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29562163
17.
GenomeDiver: a platform for phenotype-guided medical genomic diagnosis.
Genet Med
; 23(10): 1998-2002, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113009
18.
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
19.
A common variant in PNPLA3 is associated with age at diagnosis of NAFLD in patients from a multi-ethnic biobank.
J Hepatol
; 72(6): 1070-1081, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32145261
20.
Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry.
JAMA
; 322(22): 2191-2202, 2019 12 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31821430