Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2024 1
2025 2

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

2 results

Results by year

Filters applied: . Clear all
Page 1
Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies.
Micale L, Vourlia A, Fusco C, Pracella R, Karagiannis DC, Nardella G, Vaccaro L, Leone MP, Gramazio A, Dentici ML, Aiello C, Novelli A, Xenou L, Sui Y, Eichler EE, Cacchiarelli D, Mavrothalassitis G, Castori M. Micale L, et al. Eur J Hum Genet. 2025 Jun;33(6):718-726. doi: 10.1038/s41431-024-01721-9. Epub 2024 Dec 12. Eur J Hum Genet. 2025. PMID: 39668184
Variant sub-tiering, disease-gene associations and strictness of clinical criteria improves the interpretation of variants of uncertain significance in hereditary cardiomyopathies and rhythm disorders.
Castori M, Mastroianno S, Fontana A, Morlino S, Nardella G, Di Muro E, Palumbo P, Leone MP, Pracella R, Palumbo O, Petracca A, Potenza DR, Carella M, De Luca G, Coli C, Massaro RS, De Santis R, Vaccaro L, Cesana M, Cacchiarelli D, Copetti M, Fusco C, Di Stolfo G. Castori M, et al. J Hum Genet. 2025 Jul;70(7):349-358. doi: 10.1038/s10038-025-01344-y. Epub 2025 Apr 30. J Hum Genet. 2025. PMID: 40307381