Detalhe da pesquisa
1.
Scaling Genetic Counseling in the Genomics Era.
Annu Rev Genomics Hum Genet
; 22: 339-355, 2021 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33722076
2.
Genomic sequencing research in pediatric cancer care: Decision-making, attitudes, and perceived utility among adolescents and young adults and their parents.
Genet Med
; : 101168, 2024 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38767058
3.
Families' experiences accessing care after genomic sequencing in the pediatric cancer context: "It's just been a big juggle".
J Genet Couns
; 2024 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38225886
4.
Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) study.
Genet Med
; 25(9): 100899, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37212252
5.
Clinical and molecular features of pediatric cancer patients with Lynch syndrome.
Pediatr Blood Cancer
; 69(11): e29859, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35713195
6.
Genomic analysis and preclinical xenograft model development identify potential therapeutic targets for MYOD1-mutant soft-tissue sarcoma of childhood.
J Pathol
; 255(1): 52-61, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34086347
7.
FOCAD Indel in a Family With Juvenile Polyposis Syndrome.
J Pediatr Gastroenterol Nutr
; 75(1): 56-58, 2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35622075
8.
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.
Am J Hum Genet
; 103(3): 319-327, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30193136
9.
A review and definition of 'usual care' in genetic counseling trials to standardize use in research.
J Genet Couns
; 30(1): 42-50, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33278053
10.
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Am J Hum Genet
; 101(4): 503-515, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28942966
11.
Why Patients Decline Genomic Sequencing Studies: Experiences from the CSER Consortium.
J Genet Couns
; 27(5): 1220-1227, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29497922
12.
A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.
J Genet Couns
; 26(3): 387-434, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28357779
13.
"Not Tied Up Neatly with a Bow": Professionals' Challenging Cases in Informed Consent for Genomic Sequencing.
J Genet Couns
; 25(1): 62-72, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25911622
14.
Parent decision-making around the genetic testing of children for germline TP53 mutations.
Cancer
; 121(2): 286-93, 2015 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25223899
15.
Experiences with obtaining informed consent for genomic sequencing.
Am J Med Genet A
; 167A(11): 2635-46, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26198374
16.
Update on cancer predisposition syndromes and surveillance guidelines for childhood brain tumors.
Clin Cancer Res
; 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38573059
17.
Views of Adolescents and Young Adults with Cancer and Their Oncologists Toward Patients' Participation in Genomic Research.
J Adolesc Young Adult Oncol
; 12(5): 773-781, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36595372
18.
Haploinsufficiency of STK11 and neighboring genes cause a contiguous gene syndrome including Peutz-Jeghers phenotype.
Am J Med Genet A
; 158A(11): 2959-62, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22987620
19.
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.
Genome Med
; 14(1): 131, 2022 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36414972
20.
Pediatric Oncologists' Experiences Returning and Incorporating Genomic Sequencing Results into Cancer Care.
J Pers Med
; 11(6)2021 Jun 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34207141