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.
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
4.
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
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.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months.
J Inherit Metab Dis;
41(5): 829-838, 2018 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29305734
15.
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.
Genet Med;
19(9): 967-974, 2017 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28406489
16.
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
Genet Med;
19(12)2017 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28771246
17.
Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency).
Genet Med;
18(1): 34-40, 2016 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25834946
18.
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State.
Genet Med;
18(12): 1235-1243, 2016 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27171547
19.
Newborn screening for Krabbe disease in New York State: the first eight years' experience.
Genet Med;
18(3): 239-48, 2016 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26795590
20.
50 Years Ago in TheJournalofPediatrics: Phenylketonuria over the Years: A Story of Treatable Intellectual Disability.
J Pediatr;
228: 189, 2021 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33342489