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.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
Visual outcomes following everolimus targeted therapy for neurofibromatosis type 1-associated optic pathway gliomas in children.
Pediatr Blood Cancer
; 68(4): e28833, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33336845
15.
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Hum Mutat
; 41(1): 299-315, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31595648
16.
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.
Hum Genet
; 139(4): 483-498, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32055997
17.
Closing the loop: Editors' feedback on the ASHG readership survey.
Am J Hum Genet
; 109(6): 977-978, 2022 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35659931
18.
Multi-Omics Profiling for NF1 Target Discovery in Neurofibromin (NF1) Deficient Cells.
Proteomics
; 19(11): e1800334, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30908848
19.
Recognizing those who deal with rare disease every day.
Am J Hum Genet
; 108(2): 213, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33545026
20.
Describing human populations: An evolving picture in human genetics research.
Am J Hum Genet
; 108(12): 2207, 2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34861171