Associated Papers
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12
Effects of Noonan Syndrome-Germline Mutations on Mitochondria and Energy Metabolism.
Bajia D et al.
Cells, 2022
Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.
Simonetti G et al.
Leukemia, 2021
34193978 (PubMed )
Supplement: 41375_2021_1318_MOESM7_ESM.xlsx › S12-Variants
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.
Brinkmann J et al.
European Journal of Human Genetics : Ejhg, 2021
A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.
Larson ED et al.
Human Mutation, 2019
Expansion of the RASopathies.
Tidyman WE et al.
Current Genetic Medicine Reports, 2016
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.
Vissers LE et al.
European Journal of Human Genetics : Ejhg, 2015
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