Associated Papers
Understanding Molecular Basis of PTPN11-Related Diseases.
Um S et al.
Arxiv, 2025
Clinical and molecular analysis of seventy-one fetal cases with RASopathies.
Yu QX et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2025
Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders.
Neuens S et al.
European Journal of Medical Genetics, 2025
Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients.
Yang Z et al.
Npj Genomic Medicine, 2025
Multiplexed single-cell transcriptomics reveals diverse phenotypic outcomes for pathogenic SHP2 variants.
van Vlimmeren AE et al.
Biorxiv : the Preprint Server for Biology, 2025
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.
Sierant MC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Portraying the full picture of Neurofibromatosis-Noonan syndrome: a systematic review of literature.
Trimeche O et al.
Journal of Medical Genetics, 2025
Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.
Yılmaz Uzman C et al.
European Journal of Pediatrics, 2024
Deep mutational scanning of a multi-domain signaling protein reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Biorxiv : the Preprint Server for Biology, 2024
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
Kim J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum.
Atique Tacla M et al.
European Journal of Human Genetics : Ejhg, 2024
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 2023
Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study.
Swarts JW et al.
American Journal of Medical Genetics. Part A, 2022
Importance of genetic testing in unexplained cardiac arrest.
Grondin S et al.
European Heart Journal, 2022
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE et al.
Hgg Advances, 2022
Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes.
Mutai H et al.
Orphanet Journal of Rare Diseases, 2022
Cochlear Implantation in Noonan Syndrome With and Without Multiple Lentigines: A Case Report and Systematic Review.
Blumenthal D et al.
Otology & Neurotology Open, 2022
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
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.
D'Amico A et al.
Clinical Genetics, 2021
Clinical features, genetic detection and therapeutic response to rhGH of children with Noonan syndrome: an analysis of 12 cases.
Shangguan H et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2021
Congenital sensorineural hearing loss as the initial presentation of PTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms.
Gao X et al.
Journal of Medical Genetics, 2021
Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center's Experience Over 5 Years.
Janin A et al.
Molecular Diagnosis & Therapy, 2021
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations.
Wenger BM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
A PTPN11 mutation in a woman with Noonan syndrome and protein-losing enteropathy.
Wang N et al.
Bmc Gastroenterology, 2020
Missense Mutations in the FLNC Gene Causing Familial Restrictive Cardiomyopathy.
Roldán-Sevilla A et al.
Circulation. Genomic and Precision Medicine, 2019
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Koczkowska M et al.
American Journal of Human Genetics, 2018
Decoding disease-causing mechanisms of missense mutations from supramolecular structures.
Hijikata A et al.
Scientific Reports, 2017
Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.
Brohl AS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations.
Atik T et al.
Indian Journal of Pediatrics, 2016
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?
Döcker D et al.
European Journal of Human Genetics : Ejhg, 2015
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.
Carcavilla A et al.
Revista Espanola De Cardiologia (english Ed.), 2013
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.
Fahrner JA et al.
American Journal of Medical Genetics. Part A, 2012
Lethal presentation of neurofibromatosis and Noonan syndrome.
Prada CE et al.
American Journal of Medical Genetics. Part A, 2011
A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.
Takahashi K et al.
European Journal of Pediatrics, 2005
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.
Bertola DR et al.
American Journal of Medical Genetics. Part A, 2005
Missing Links Between Genetically Inherited Molecules in Split Cord Malformation and Other Anomaly: A Bench to Bedside Approach.
Barik M et al.
Journal of Pediatric Neurosciences, 0