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.
Patient and Provider Experiences and Views on the Use of Telehealth in Genetics Clinics in Response to the COVID-19 Pandemic.
Telemed J E Health
; 30(1): 118-125, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37294555
3.
TRPC6 inhibitor (BI 764198) to reduce risk and severity of ARDS due to COVID-19: a phase II randomised controlled trial.
Thorax
; 78(8): 816-824, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37024277
4.
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
5.
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
Mol Genet Metab
; 139(2): 107605, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37207470
6.
B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen.
Nat Immunol
; 13(2): 170-80, 2011 Dec 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-22197976
7.
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
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
em Inglês
| MEDLINE | ID: mdl-36563179
9.
The role and control of arginine levels in arginase 1 deficiency.
J Inherit Metab Dis
; 46(1): 3-14, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36175366
10.
Remdesivir and Mortality in Patients With Coronavirus Disease 2019.
Clin Infect Dis
; 74(10): 1812-1820, 2022 05 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34409431
11.
Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): A systematic review.
Mol Genet Metab
; 137(1-2): 153-163, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36049366
12.
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency.
Genet Med
; 23(8): 1543-1550, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33875845
13.
GenomeDiver: a platform for phenotype-guided medical genomic diagnosis.
Genet Med
; 23(10): 1998-2002, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113009
14.
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
15.
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders.
Mol Genet Metab
; 132(1): 19-26, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33388234
16.
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency.
J Inherit Metab Dis
; 44(4): 847-856, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33325055
17.
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
18.
A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features.
Clin Genet
; 98(6): 606-612, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32812661
19.
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.
Mol Genet Metab
; 127(4): 336-345, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31326288
20.
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.
PLoS Genet
; 12(4): e1005848, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27120463