Associated Papers
Genetic Diagnosis and Discovery Enabled by Large Language Models.
Tu T et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026
Therapeutic Response to Myosin Inhibitor Therapy in Noonan Syndrome-Associated Obstructive Hypertrophic Cardiomyopathy.
Feidakis A et al.
Jacc. Case Reports, 2026
Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health-Related Quality of Life and Neurologic Symptoms.
Draaisma JMT et al.
American Journal of Medical Genetics. Part A, 2026
A rare 5'UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta: a roadmap for RNA therapeutic rescue.
Essawi O et al.
Scientific Reports, 2026
Hypertrophic Cardiomyopathy Genotype-Phenotype Analysis in Lithuanian Single-Center Cohort.
Šukys M et al.
International Journal of Molecular Sciences, 2025
Proximity-labeling proteomics reveals remodeled interactomes and altered localization of pathogenic SHP2 variants.
van Vlimmeren AE et al.
Embo Reports, 2025
Noonan Syndrome, Cancer Risk, and Growth Hormone Treatment
Demir K et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Expanded noninvasive prenatal screening for dominant single-gene disorders: proof-of-concept, performance, and challenges.
Chen S et al.
American Journal of Obstetrics and Gynecology, 2025
Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants.
Ates K et al.
Molecular Syndromology, 2025
Understanding Molecular Basis of PTPN11-Related Diseases.
Um S et al.
Arxiv, 2025
Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.
Okamura K et al.
The Journal of Dermatology, 2025
The clinical and genetic spectrum of pediatric hypertrophic cardiomyopathy manifesting before one year of age.
Fetisova S et al.
Pediatric Research, 2025
Proximity-labeling proteomics reveals remodeled interactomes and altered localization of pathogenic SHP2 variants.
van Vlimmeren AE et al.
Biorxiv : the Preprint Server for Biology, 2025
SHP2 genetic variants in NSML-associated RASopathies disrupt the PZR-IRX transcription factor signaling axis.
Perla S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Beyond the postmortem diagnosis of hypertrophic cardiomyopathy: a genetic approach guided by clinical and morphological features in Noonan syndrome.
Sola-García E et al.
Revista Espanola De Cardiologia (english Ed.), 2025
[Hypertrophy of the lumbosacral nerve roots in Noonan syndrome with multiple lentigines: a case report].
Araga Y et al.
Rinsho Shinkeigaku = Clinical Neurology, 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
Exploring the allosteric effect of SHP2 Tyr62 phosphorylation on the emergence of acquired resistance to allosteric inhibitor SHP099.
Du T et al.
Journal of Biomolecular Structure & Dynamics, 2025
Osteosarcoma Arising in Noonan Syndrome/RASopathy Complex: First Case Report.
Yousef N et al.
Head and Neck Pathology, 2025
Genetic Insights Into Recurrent Granular Cell Tumours in an Adolescent: The Role of Cytology and Next-Generation Sequencing in the Diagnosis of RASopathies.
Baishya P et al.
Cytopathology : Official Journal of the British Society for Clinical Cytology, 2025
Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.
Odintsov I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
High yield of monogenic short stature in children from Kurdistan, Iraq: A genetic testing algorithm for consanguineous families.
Amaratunga SA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025