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
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
Inglês
| MEDLINE | ID: mdl-37897232
3.
Measuring health-related quality of life in children with suspected genetic conditions: validation of the PedsQL proxy-report versions.
Qual Life Res
; 2024 Mar 12.
Artigo
Inglês
| MEDLINE | ID: mdl-38472717
4.
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
Inglês
| MEDLINE | ID: mdl-38743313
5.
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.
Genet Med
; 25(8): 100884, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37161864
6.
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
Inglês
| MEDLINE | ID: mdl-37158195
7.
Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.
Clin Genet
; 104(2): 210-225, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37334874
8.
Detection of mosaic variants using genome sequencing in a large pediatric cohort.
Am J Med Genet A
; 191(3): 699-710, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36563179
9.
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
Genet Med
; 21(3): 631-640, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30093709
10.
The motivation and process for developing a consortium-wide time and motion study to estimate resource implications of innovations in the use of genome sequencing to inform patient care.
Clin Transl Sci
; 17(1): e13635, 2024 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38064200
11.
ScreenPlus: A comprehensive, multi-disorder newborn screening program.
Mol Genet Metab Rep
; 38: 101037, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38173711
12.
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.
bioRxiv
; 2023 Jan 13.
Artigo
Inglês
| MEDLINE | ID: mdl-36711854
13.
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
medRxiv
; 2023 Mar 20.
Artigo
Inglês
| MEDLINE | ID: mdl-36993157
14.
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
Inglês
| MEDLINE | ID: mdl-36949526
15.
The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic counseling in racially and ethnically diverse families.
medRxiv
; 2023 Jul 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37461450
16.
Parental Depression and Anxiety Associated with Newborn Bloodspot Screening for Rare and Variable-Onset Disorders.
Int J Neonatal Screen
; 8(4)2022 Nov 10.
Artigo
Inglês
| MEDLINE | ID: mdl-36412585
17.
The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children.
Trials
; 22(1): 56, 2021 Jan 14.
Artigo
Inglês
| MEDLINE | ID: mdl-33446240
18.
Correction to: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children.
Trials
; 22(1): 146, 2021 Feb 16.
Artigo
Inglês
| MEDLINE | ID: mdl-33593377