Detalhe da pesquisa
1.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 750-758, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202563
2.
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
Am J Med Genet A
; 194(3): e63445, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872713
3.
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
Genet Med
; 24(2): 364-373, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906496
4.
Clinical utility and cost-effectiveness analysis of chromosome testing concomitant with chromosomal microarray of patients with constitutional disorders in a U.S. academic medical center.
J Genet Couns
; 31(2): 364-374, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34397147
5.
Rare SUZ12 variants commonly cause an overgrowth phenotype.
Am J Med Genet C Semin Med Genet
; 181(4): 532-547, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31736240
6.
A delivery service model for genetics: The use of a genetic counselor and nurse practitioner team for diagnosis and care in specific condition populations.
Nurs Forum
; 57(5): 819-824, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35752608
7.
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
NPJ Genom Med
; 6(1): 104, 2021 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34876591
8.
Germline predisposition to genitourinary rhabdomyosarcoma.
Transl Androl Urol
; 9(5): 2430-2440, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33209717