Associated Papers
Genetic analysis of fetal skeletal dysplasia via whole exome sequencing and non-invasive prenatal diagnosis.
Wang L et al.
Annals of Medicine, 2026
Exome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest Iran.
Zabihi R et al.
Clinical Genetics, 2026
Pathways to Facilitate Early Recognition and Diagnosis of Hypochondroplasia.
Irving M et al.
Advances in Therapy, 2026
Proteome-Wide Analysis of Functional Phosphosites in the FGFR Family of Proteins: Insights from Large-Scale Phosphoproteomic Analysis.
Palollathil A et al.
Proteomes, 2026
Cell-free DNA from cerebrospinal fluid cytology specimens as a novel liquid biopsy approach for pediatric patients with primary central nervous system tumors.
Chun N et al.
Acta Neuropathologica Communications, 2026
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.
Hu J et al.
Biomedicines, 2026
Whole-genome sequencing for the prenatal evaluation of fetal structural anomalies: a prospective multicenter study.
Gao Z et al.
American Journal of Obstetrics and Gynecology, 2026
Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications.
Jiang Y et al.
Prenatal Diagnosis, 2026
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
Constitutive activation of activin receptor-like kinase 3 in chondrocytes exacerbates skeletal dysplasia in mice with achondroplasia.
Jin M et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025
Clinical and Molecular Features of Ciliopathies Diagnosed by Prenatal Exome Sequencing in Fetuses With Ultrasound Abnormalities.
Zhu X et al.
Prenatal Diagnosis, 2025
Utility of whole exome sequencing in the evaluation of isolated fetal growth restriction in normal chromosomal microarray analysis.
Shi X et al.
Annals of Medicine, 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
Deep insights and clinical benefits from the comprehensive cohort of fetal skeletal dysplasia in China.
Li G et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Comprehensive molecular landscape of anal squamous cell carcinoma: analysis of tissue and liquid biopsies from 1844 patients.
Smolenschi C et al.
Npj Precision Oncology, 2025
Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders.
Lindelöf H et al.
European Journal of Human Genetics : Ejhg, 2025
Clinicopathologic, immunohistochemical and genomic characterization of urothelial carcinoma with myxoid and chordoid features.
Zhao T et al.
Histopathology, 2025
Infigratinib low dose therapy is an effective strategy to treat hypochondroplasia.
Demuynck B et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025
Constrained hypermutation and absence of TERT promoter mutations in Lynch syndrome-associated urothelial cancer.
Nikkola J et al.
Cell Reports, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Diagnostic yield of trio exome sequencing as a first-tier test for identifying genetic causes of pregnancy loss.
Xiang L et al.
Journal of Human Genetics, 2025
Discovery of Novel RASGRF2 Fusions as a Therapeutic Target in Lung Adenocarcinoma of Never or Light Smokers.
Terashima Y et al.
Cancer Science, 2025
Identifying predictive markers of head and neck squamous cell carcinoma in an umbrella trial (KCSG HN 15-16 TRIUMPH trial).
Hwang S et al.
Esmo Open, 2025
Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2025
The genetic basis of human height.
Bicknell LS et al.
Nature Reviews. Genetics, 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 2025
Discovery of Potent FGFR2/3 Inhibitors to Overcome Mutation Resistance and Treat Achondroplasia.
Fu D et al.
Acs Medicinal Chemistry Letters, 2025
Prevalence and biological impact of clinically relevant gene fusions in head and neck cancers.
Hoskins EL et al.
Npj Precision Oncology, 2025
Genetic skeletal disorders: phenotypic-genotypic characteristics and RhGH therapy responses of a pediatric cohort.
Huang Y et al.
Scientific Reports, 2025
Advances in the mechanism and therapies of achondroplasia.
Chen H et al.
Genes & Diseases, 2025
Gene Dosage Sensitivity and Human Genetic Diseases.
Veitia RA et al.
Journal of Inherited Metabolic Disease, 2025
Editorial on Genomic Mosaicism in Human Development and Diseases.
Xi X et al.
Genes, 2025
RUNX2 is essential for maintaining synchondrosis chondrocytes and cranial base growth.
Hallett SA et al.
Bone Research, 2025
Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study.
Jiang M et al.
Acta Obstetricia Et Gynecologica Scandinavica, 2025
Endoplasmic reticulum stress disrupts signaling via altered processing of transmembrane receptors.
Bosakova M et al.
Cell Communication and Signaling : Ccs, 2025
Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons.
Taniguchi K et al.
Molecular Genetics & Genomic Medicine, 2025
Digenic impairments of haploinsufficient genes in patients with craniosynostosis.
Yu JW et al.
Jci Insight, 2025
ERF-Related Craniosynostosis in a Patient With Hypochondroplasia: A Case Report.
Jumayeva G et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2025
FGFR antagonists restore defective mandibular bone repair in a mouse model of osteochondrodysplasia.
Morice A et al.
Bone Research, 2025
Fgfr3 enhancer deletion markedly improves all skeletal features in a mouse model of achondroplasia.
Angelozzi M et al.
The Journal of Clinical Investigation, 2025
Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection.
Cui LM et al.
Molecular Genetics & Genomic Medicine, 2025
RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenic NTRK fusions in a real-world standard-of-care setting.
Wallen ZD et al.
Frontiers in Genetics, 2025
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
Application of family whole-exome sequencing for prenatal diagnosis-an analysis of 357 cases.
Ge Y et al.
Frontiers in Medicine, 2025
Familial 3M Syndrome - as an Example of Diagnostic Difficulties in Rare Genetic Syndromes.
Pasińska M et al.
The Application of Clinical Genetics, 2025