Detalhe da pesquisa
1.
State of the Science and Ethical Considerations for Preimplantation Genetic Testing for Monogenic Cystic Kidney Diseases and Ciliopathies.
J Am Soc Nephrol
; 35(2): 235-248, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37882743
2.
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Hum Genet
; 143(5): 649-666, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538918
3.
Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(10): 100870, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37490054
4.
NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024.
J Natl Compr Canc Netw
; 21(10): 1000-1010, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37856201
5.
Influence of the COVID-19 pandemic on prenatal and postpartum patient experiences and well-being.
Birth
; 50(4): 1034-1044, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37555375
6.
"I had so many life-changing decisions I had to make without support": a qualitative analysis of women's pregnant and postpartum experiences during the COVID-19 pandemic.
BMC Pregnancy Childbirth
; 22(1): 537, 2022 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35787675
7.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Am J Hum Genet
; 103(5): 666-678, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30343943
8.
Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(8): 1416-1423, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33976419
9.
Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.
J Natl Compr Canc Netw
; 19(1): 77-102, 2021 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33406487
10.
Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.
Hum Mutat
; 41(7): 1238-1249, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32112660
11.
NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.
J Natl Compr Canc Netw
; 18(4): 380-391, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32259785
12.
Response to Stern.
Genet Med
; 26(2): 101030, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38156990
13.
Increasing genetic counseling referral rates through bundled interventions after ovarian cancer diagnosis.
Gynecol Oncol
; 149(1): 121-126, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29402500
14.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Am J Hum Genet
; 104(3): 562, 2019 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30849329
15.
NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017.
J Natl Compr Canc Netw
; 15(1): 9-20, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28040716
16.
What do the new American College of Medical Genetics and Genomics (ACMG) guidelines mean for the provision of non-invasive prenatal genetic screening?
J Obstet Gynaecol
; 37(6): 795-798, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28366031
17.
Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2015.
J Natl Compr Canc Netw
; 14(2): 153-62, 2016 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26850485
18.
Predicting vaginal birth after cesarean section: a cohort study.
Gynecol Obstet Invest
; 77(2): 121-6, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24525697
19.
Noninvasive Prenatal Genetic Screening Using Cell-free DNA.
JAMA
; 320(6): 591-592, 2018 Aug 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30073283
20.
Long QT syndrome-associated mutations in intrauterine fetal death.
JAMA
; 309(14): 1473-82, 2013 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23571586