Associated Papers
Dysregulated TGFβ-ERK Signaling Drives Aberrant Extracellular Matrix Production in Noonan Syndrome-Associated Pulmonary Valve Stenosis.
Liu CZ et al.
Biorxiv : the Preprint Server for Biology, 2026
Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?
Carrer A et al.
Genes, 2025
Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections.
Gulrajani NB et al.
Prenatal Diagnosis, 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
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
[Summary of the first Hungarian experiences with prenatal chromosomal microarray analysis and whole-exome sequencing].
Pikó H et al.
Orvosi Hetilap, 2024
Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease.
Tambi R et al.
Physiological Genomics, 2023
Integrating rapid exome sequencing into NICU clinical care after a pilot research study.
D'Gama AM et al.
Npj Genomic Medicine, 2022
Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly.
Liu M et al.
European Journal of Human Genetics : Ejhg, 2022
Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis.
Weaver KN et al.
Circulation. Genomic and Precision Medicine, 2022
Comprehensive genomic profiling of colorectal cancer patients reveals differences in mutational landscapes among clinical and pathological subgroups.
Li P et al.
Frontiers in Oncology, 2022
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Despite mutation acquisition in hematopoietic stem cells, JMML-propagating cells are not always restricted to this compartment.
Caye A et al.
Leukemia, 2020
Noonan syndrome on the African Continent.
Tekendo-Ngongang C et al.
Birth Defects Research, 2020
De novo damaging variants associated with congenital heart diseases contribute to the connectome.
Ji W et al.
Scientific Reports, 2020
The third generation sequencing: the advanced approach to genetic diseases.
Xiao T et al.
Translational Pediatrics, 2020
De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.
Sevim Bayrak C et al.
Genome Medicine, 2020
Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome.
Shoji Y et al.
Endocrine Journal, 2019
Cardiac transplantation in children with Noonan syndrome.
McCallen LM et al.
Pediatric Transplantation, 2019
A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.
Wilbe M et al.
Prenatal Diagnosis, 2017
Noonan syndrome in diverse populations.
Kruszka P et al.
American Journal of Medical Genetics. Part A, 2017
Prenatal and Postnatal Sonographic Confirmation of Congenital Absence of the Ductus Venosus in a Child with Noonan Syndrome.
Newman CL et al.
Case Reports in Radiology, 2017
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.
Pierpont EI et al.
American Journal of Medical Genetics. Part A, 2010
Genotype differences in cognitive functioning in Noonan syndrome.
Pierpont EI et al.
Genes, Brain, and Behavior, 2009
PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings.
Lee KA et al.
Clinical Genetics, 2009
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Aoki Y et al.
Human Mutation, 2008
Noonan Syndrome Case Report: PTPN11 and Other Potential Genetic Factors Contributing to Lethal Hypertrophic Right Ventricular Cardiomyopathy.
Daoud E et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0