Detalhe da pesquisa
1.
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Am J Hum Genet
; 110(10): 1787-1803, 2023 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37751738
2.
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.
Am J Hum Genet
; 108(10): 1964-1980, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34547244
3.
Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions.
Genet Med
; 25(2): 100334, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36454238
4.
Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores.
Genet Med
; 25(9): 100906, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37246632
5.
Performance of single-gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting.
Prenat Diagn
; 43(10): 1344-1354, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37674263
6.
Measuring quality and value in genetic counseling: The current landscape and future directions.
J Genet Couns
; 32(2): 315-324, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36385723
7.
Performance of the shared decision-making process scale for use in evaluation of hereditary cancer genetic testing decisions.
J Genet Couns
; 32(5): 957-964, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37069832
8.
Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines.
Genet Med
; 24(9): 1878-1887, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35767006
9.
The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network.
Genet Med
; 24(5): 1130-1138, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35216901
10.
Mother and Daughter Perspectives on Genetic Counseling and Testing of Adolescents for Hereditary Breast Cancer Risk.
J Pediatr
; 251: 113-119.e7, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35777474
11.
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
12.
Do research participants share genomic screening results with family members?
J Genet Couns
; 31(2): 447-458, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34665896
13.
Returning negative results from large-scale genomic screening: Experiences from the eMERGE III network.
Am J Med Genet A
; 185(2): 508-516, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36046768
14.
COVID contingencies: Early epicenter experiences of different genetics clinics at a New York City institution inform emergency adaptation strategies.
J Genet Couns
; 30(4): 938-948, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33734519
15.
GeneLiFT: A novel test to facilitate rapid screening of genetic literacy in a diverse population undergoing genetic testing.
J Genet Couns
; 30(3): 742-754, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33368851
16.
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
PLoS Genet
; 14(12): e1007822, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30532227
17.
Ethical conflicts in translational genetic research: lessons learned from the eMERGE-III experience.
Genet Med
; 22(10): 1667-1672, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32555418
18.
Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes.
Genet Med
; 22(12): 2020-2028, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32719394
19.
Participant choices for return of genomic results in the eMERGE Network.
Genet Med
; 22(11): 1821-1829, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32669677
20.
A qualitative study of Latinx parents' experiences of clinical exome sequencing.
J Genet Couns
; 29(4): 574-586, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32298033