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.
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Cytotherapy
; 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38613540
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
em Inglês
| MEDLINE | ID: mdl-38743313
5.
Whole-genome sequencing holds the key to the success of gene-targeted therapies.
Am J Med Genet C Semin Med Genet
; 193(1): 19-29, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36453229
6.
When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective.
Am J Med Genet C Semin Med Genet
; 193(1): 44-55, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36876995
7.
Are we prepared to deliver gene-targeted therapies for rare diseases?
Am J Med Genet C Semin Med Genet
; 193(1): 7-12, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36691939
8.
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
9.
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
10.
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
11.
The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research.
Am J Hum Genet
; 104(6): 1088-1096, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31104772
12.
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Am J Hum Genet
; 105(3): 493-508, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31447100
13.
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.
Genet Med
; 24(7): 1425-1436, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35471153
14.
Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus.
Mol Genet Metab
; 135(2): 154-162, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34972655
15.
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.
Am J Hum Genet
; 103(3): 319-327, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30193136
16.
GenomeDiver: a platform for phenotype-guided medical genomic diagnosis.
Genet Med
; 23(10): 1998-2002, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113009
17.
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
18.
Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatment.
Mol Genet Metab
; 131(1-2): 245-252, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32620536
19.
Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy.
Mol Genet Metab
; 131(1-2): 116-123, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32616389
20.
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
em Inglês
| MEDLINE | ID: mdl-30093709