The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

Costello syndrome: Clinical phenotype, genotype, and management guidelines

(2019) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Arthritis associated to cardio-facio-cutaneous syndrome related to a MAP2K1 mutation

(2019) Pierre Bochet et al.   JOINT BONE SPINE

ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation

(2018) Bruce D Gelb et al.   GENETICS IN MEDICINE

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

(2018) Jennifer J Johnston et al.   GENETICS IN MEDICINE

Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies

(2018) Gordon K. C. Leung et al.   Scientific Reports

Paraneoplastic autoimmune multiorgan syndrome (PAMS): Beyond the single phenotype of paraneoplastic pemphigus

(2018) Kyle T. Amber et al.   AUTOIMMUNITY REVIEWS

Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework

(2018) Andrew R. Grant et al.   HUMAN MUTATION

Genetic and Environmental Determinants of Otitis Media in an Indigenous Filipino Population

(2016) Regie Lyn P. Santos-Cortez et al.   OTOLARYNGOLOGY-HEAD AND NECK SURGERY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

External ear anomalies and hearing impairment in Noonan Syndrome

(2015) Dorothée C. van Trier et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Recent advances in RASopathies

(2015) Yoko Aoki et al.   JOURNAL OF HUMAN GENETICS

Rare A2ML1 variants confer susceptibility to otitis media

(2015) Regie Lyn P Santos-Cortez et al.   NATURE GENETICS

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

(2014) Lisenka ELM Vissers et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Anti-Alpha-2-Macroglobulin-Like-1 Autoantibodies Are Detected Frequently and May Be Pathogenic in Paraneoplastic Pemphigus

(2013) Sanae Numata et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Noonan syndrome and clinically related disorders

(2011) Marco Tartaglia et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM