Detalhe da pesquisa
1.
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.
Am J Hum Genet
; 105(2): 403-412, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31303265
2.
Experiences from the epicenter: Professional impact of the COVID-19 pandemic on genetic counselors in New York.
Am J Med Genet C Semin Med Genet
; 187(1): 28-36, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33225573
3.
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Am J Med Genet A
; 185(6): 1649-1665, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33783954
4.
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Am J Med Genet A
; 185(11): 3446-3458, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34436830