Detalhe da pesquisa
1.
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
Am J Hum Genet
; 110(9): 1454-1469, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37595579
2.
The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease.
Prenat Diagn
; 44(3): 343-351, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38285371
3.
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.
Prenat Diagn
; 44(4): 422-431, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054560
4.
Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities.
Genet Med
; 25(10): 100915, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37326029
5.
Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.
Am J Med Genet A
; 191(5): 1282-1292, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36826837
6.
Two unrelated fetuses with ITPR1 missense variants and fetal hydrops.
Prenat Diagn
; 43(11): 1463-1466, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37705153
7.
Diagnostic yield and psychological outcomes among women pursuing trio-exome sequencing: Do women with recurrent anomalous fetal phenotypes experience more negative psychological outcomes?
Prenat Diagn
; 43(5): 569-578, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36690925
8.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35579625
9.
Parental motivations for and adaptation to trio-exome sequencing in a prospective prenatal testing cohort: Beyond the diagnosis.
Prenat Diagn
; 42(6): 775-782, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35132674
10.
Noninvasive prenatal exome sequencing diagnostic utility limited by sequencing depth and fetal fraction.
Prenat Diagn
; 42(5): 567-573, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34265090
11.
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
12.
Information is power: The experiences, attitudes and needs of individuals who chose to have prenatal genomic sequencing for fetal anomalies.
Prenat Diagn
; 42(7): 947-954, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35476893
13.
Impact of prenatal exome sequencing for fetal genetic diagnosis on maternal psychological outcomes and decisional conflict in a prospective cohort.
Genet Med
; 23(4): 713-719, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33214710
14.
Provider Attitudes on Regionalization of Maternity Care: A National Survey.
Matern Child Health J
; 25(9): 1402-1409, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34097190
15.
Correction: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Genet Med
; 22(8): 1426, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32555414
16.
An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Genet Med
; 22(5): 954-961, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31974414
17.
Providing reproductive health services for women who inject drugs: a pilot program.
Harm Reduct J
; 17(1): 47, 2020 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32664931
18.
Use of a novel computerized decision aid for aneuploidy screening: a randomized controlled trial.
Genet Med
; 21(4): 923-929, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30214066
19.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 25(2): 100004, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745127
20.
Ethical and counseling challenges in prenatal exome sequencing.
Prenat Diagn
; 38(12): 897-903, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30171820