Detalhe da pesquisa
1.
In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.
N Engl J Med
; 387(23): 2150-2158, 2022 12 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36351280
2.
Trust in prenatal exome sequencing for expectant families facing unexplained fetal anomalies.
Prenat Diagn
; 44(3): 263-269, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38158591
3.
The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction.
Prenat Diagn
; 44(2): 196-204, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37594370
4.
Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.
N Engl J Med
; 383(18): 1746-1756, 2020 10 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33027564
5.
Access to prenatal exome sequencing for fetal malformations: A qualitative landscape analysis in the US.
Prenat Diagn
; 43(11): 1394-1405, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37752660
6.
Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects.
Prenat Diagn
; 43(13): 1638-1649, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37955580
7.
Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach.
Genet Med
; 24(6): 1206-1216, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35396980
8.
Exome sequencing vs targeted gene panels for the evaluation of nonimmune hydrops fetalis.
Am J Obstet Gynecol
; 226(1): 128.e1-128.e11, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34331894
9.
The utility of pathologic examination and comprehensive phenotyping for accurate diagnosis with perinatal exome sequencing.
Prenat Diagn
; 42(10): 1288-1294, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35723972
10.
Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy.
Prenat Diagn
; 42(11): 1409-1419, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36029101
11.
Preference for secondary findings in prenatal and pediatric exome sequencing.
Prenat Diagn
; 42(6): 753-761, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34057224
12.
Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.
Prenat Diagn
; 42(13): 1686-1693, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36403095
13.
Nonimmune hydrops fetalis: identifying the underlying genetic etiology.
Genet Med
; 21(6): 1339-1344, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30410095
14.
Favorable outcomes after in utero transfusion in fetuses with alpha thalassemia major: a case series and review of the literature.
Prenat Diagn
; 36(13): 1242-1249, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862048
15.
The impact of in utero transfusions on perinatal outcomes in patients with alpha thalassemia major: the UCSF registry.
Blood Adv
; 7(2): 269-279, 2023 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36306387
16.
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
NPJ Genom Med
; 8(1): 10, 2023 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37236975
17.
Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients.
Orphanet J Rare Dis
; 17(1): 25, 2022 01 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35093147
18.
"Let's Just Wait Until She's Born": Temporal Factors That Shape Decision-Making for Prenatal Genomic Sequencing Amongst Families Underrepresented in Genomic Research.
Front Genet
; 13: 882703, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35669190
19.
Exome sequencing of fetuses with congenital diaphragmatic hernia supports a causal role for NR2F2, PTPN11, and WT1 variants.
Am J Surg
; 223(1): 182-186, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34315577
20.
Prenatal Somatic Cell Gene Therapies: Charting a Path Toward Clinical Applications (Proceedings of the CERSI-FDA Meeting).
J Clin Pharmacol
; 62 Suppl 1: S36-S52, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36106778