Detalhe da pesquisa
1.
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Brain
; 146(12): 5198-5208, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37647852
2.
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Am J Hum Genet
; 104(2): 213-228, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639323
3.
ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trial.
Genet Med
; 24(8): 1664-1674, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35522237
4.
ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents.
Genet Med
; 24(6): 1328-1335, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35341655
5.
CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum.
Am J Med Genet A
; 185(3): 827-835, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33296147
6.
The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children.
J Pediatr
; 226: 202-212.e1, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32553838
7.
Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing.
Am J Med Genet A
; 179(5): 842-845, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30828993
8.
Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges.
J Genet Couns
; 28(2): 283-291, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30964580
9.
CNTNAP1 mutations in an adult with Charcot Marie Tooth disease.
Muscle Nerve
; 60(5): E28-E30, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31397905
10.
A decision aid for additional findings in genomic sequencing: Development and pilot testing.
Patient Educ Couns
; 104(5): 960-968, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33191058
11.
A vault nanoparticle vaccine induces protective mucosal immunity.
PLoS One
; 4(4): e5409, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19404403