Detalhe da pesquisa
1.
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Annu Rev Genomics Hum Genet
; 23: 331-361, 2022 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36044908
2.
A qualitative evaluation of patient and parent experiences with an undiagnosed diseases program.
Am J Med Genet A
; 194(2): 131-140, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37750194
3.
Gene-targeted therapy for neurofibromatosis and schwannomatosis: The path to clinical trials.
Clin Trials
; 21(1): 51-66, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37937606
4.
Medical and psychosocial outcomes of state-funded population genomic screening.
Clin Genet
; 104(4): 434-442, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37340305
5.
Does genetic testing offer utility as a supplement to traditional family health history intake for inherited disease risk?
Fam Pract
; 40(5-6): 760-767, 2023 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36856778
6.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
J Med Genet
; 59(10): 965-975, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930816
7.
Analysis of patient-specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine.
Hum Mutat
; 43(1): 30-41, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34694046
8.
75 years of The American Journal of Human Genetics.
Am J Hum Genet
; 111(1): 1-2, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181728
9.
Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications.
Am J Hum Genet
; 111(4): 621-623, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38479392
10.
The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research.
Am J Hum Genet
; 104(6): 1088-1096, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31104772
11.
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Genet Med
; 24(9): 1967-1977, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35674741
12.
Genome sequencing as a first-line diagnostic test for hospitalized infants.
Genet Med
; 24(4): 851-861, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930662
13.
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.
Am J Med Genet A
; 188(6): 1915-1927, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266292
14.
Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.
Hum Mutat
; 42(1): 3-7, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33252176
15.
Celebrating excellence, acknowledging past harms: Both are vital parts of ASHG's continuing journey to advance human genetics.
Am J Hum Genet
; 110(3): 371-372, 2023 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36868195
16.
Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls.
Genet Med
; 23(2): 280-288, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32989269
17.
A state-based approach to genomics for rare disease and population screening.
Genet Med
; 23(4): 777-781, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33244164
18.
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Genet Med
; 23(8): 1506-1513, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34012067
19.
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics).
Genet Med
; 23(7): 1356-1365, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824503
20.
Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results.
Clin Genet
; 99(5): 638-649, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33818754