Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1
Author:
Affiliation:
1. Departments of Pathology Harvard Medical School and Brigham and Women's Hospital Boston MA USA
2. Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Cambridge MA USA
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1180
Reference22 articles.
1. Review and update ofSPRED1mutations causing legius syndrome
2. LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria
3. Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound
4. NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes
5. Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies
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1. Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias;Frontiers in Endocrinology;2022-11-07
2. RASopathies: Dermatologists’ viewpoints;Indian Journal of Dermatology, Venereology and Leprology;2021-12-27
3. MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders;Molecular Autism;2021-07-26
4. Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1 , RAF1 , RIT1 variants, and large deletion in NF1;American Journal of Medical Genetics Part A;2021-06-29
5. Phenotypic and genetic characterization of novel variant in the NF1 gene underlying neurofibromatosis type 1 in five Chinese families;Science China Life Sciences;2021-05-13
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