Detalhe da pesquisa
1.
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.
Am J Hum Genet
; 108(7): 1231-1238, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34089648
2.
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
Am J Med Genet A
; 194(4): e63477, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37969032
3.
Obstetrical and neonatal outcomes of cardio-facio-cutaneous syndrome: Prenatal consequences of Ras/MAPK dysregulation.
Am J Med Genet A
; 191(2): 323-331, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36308388
4.
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Genet Med
; 24(7): 1567-1582, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35482014
5.
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
6.
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
7.
Ras/MAPK dysregulation in development causes a skeletal myopathy in an activating BrafL597V mouse model for cardio-facio-cutaneous syndrome.
Dev Dyn
; 250(8): 1074-1095, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33522658
8.
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
9.
Familial cardio-facio-cutaneous syndrome: Vertical transmission of the BRAF p.G464R pathogenic variant and review of the literature.
Am J Med Genet A
; 185(2): 469-475, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33274568
10.
Juvenile xanthogranuloma in Noonan syndrome.
Am J Med Genet A
; 185(10): 3048-3052, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34032360
11.
Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies.
Am J Med Genet A
; 182(4): 866-876, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31913576
12.
The sixth international RASopathies symposium: Precision medicine-From promise to practice.
Am J Med Genet A
; 182(3): 597-606, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31825160
13.
Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders.
PLoS Genet
; 13(1): e1006516, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28076348
14.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(3): 764-765, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30275510
15.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(4): 867-876, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30190611
16.
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Am J Med Genet A
; 179(9): 1725-1744, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31222966
17.
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.
Am J Med Genet A
; 179(6): 1091-1097, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30908877
18.
Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework.
Hum Mutat
; 39(11): 1485-1493, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311384
19.
Pathogenetics of the RASopathies.
Hum Mol Genet
; 25(R2): R123-R132, 2016 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27412009
20.
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
Genet Med
; 20(11): 1334-1345, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29493581