Associated Papers
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S4Tab_DD-166_DNA_variants
Effects of Noonan Syndrome-Germline Mutations on Mitochondria and Energy Metabolism.
Bajia D et al.
Cells, 2022
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Dellefave-Castillo LM et al.
Jama Cardiology, 2022
35947370 (PubMed )
Supplement: jamacardiol-e222455-s002.xlsx › Supplemental_Table3_rollup
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F et al.
Molecular Genetics & Genomic Medicine, 2021
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
Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.
Long A et al.
American Journal of Medical Genetics. Part A, 2016
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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