Associated Papers
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.
Nguyen JNH et al.
Neurology, 2026
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.
Hu J et al.
Biomedicines, 2026
Fetal Macrocephaly: Prenatal Findings and Follow-Up in Cases With High Risk for Abnormal Outcome.
Miremberg H et al.
Prenatal Diagnosis, 2026
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.
Hou H et al.
Npj Genomic Medicine, 2025
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.
Pepe D et al.
American Journal of Human Genetics, 2025
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 2025
Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience.
Kava H et al.
Frontiers in Pediatrics, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Somatic mutations in angiogenesis-related pathways and RNA polymerase II activity in sporadic brain arteriovenous malformations.
Pérez-Alfayate R et al.
Frontiers in Neurology, 2025
The theory of massively repeated evolution and full identifications of cancer-driving nucleotides (CDNs).
Zhang L et al.
Elife, 2024
Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing.
Xu J et al.
Bmc Pediatrics, 2024
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
Clinical relevance of somatic mutations in Chinese lung adenocarcinoma and their prognostic implications for survival.
Li T et al.
Cancer Medicine, 2024
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
Fehlings DL et al.
Nature Genetics, 2024
Malformations of cortical development: Fetal imaging and genetics.
Wang LL et al.
Molecular Genetics & Genomic Medicine, 2024
Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.
Haugh AM et al.
Cancers, 2024
Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.
Yang X et al.
Bmc Medicine, 2024
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK et al.
Jama Neurology, 2023
Molecular Features of Resected Melanoma Brain Metastases, Clinical Outcomes, and Responses to Immunotherapy.
Vasudevan HN et al.
Jama Network Open, 2023
Validation and Clinical Application of ONCOaccuPanel for Targeted Next-Generation Sequencing of Solid Tumors.
Kim M et al.
Cancer Research and Treatment, 2023
Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.
Kage H et al.
Cancer Science, 2023
Metastatic Colorectal Cancer Treatment Response Evaluation by Ultra-Deep Sequencing of Cell-Free DNA and Matched White Blood Cells.
van 't Erve I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.
Guerrini R et al.
Physiological Reviews, 2023
The genetic background of hydrocephalus in a population-based cohort: implication of ciliary involvement.
Munch TN et al.
Brain Communications, 2023
A new tumorgraft panel to accelerate precision medicine in prostate cancer.
Béraud C et al.
Frontiers in Oncology, 2023
Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study.
Straka B et al.
Neurology. Genetics, 2022
Exome sequencing as first-tier test for fetuses with severe central nervous system structural anomalies.
Yaron Y et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2022
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
Schobers G et al.
Genome Medicine, 2022
Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway.
Bourgon N et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.
Klau J et al.
European Journal of Human Genetics : Ejhg, 2022
Hypoglycemia due to PI3K/AKT/mTOR signaling pathway defects: two novel cases and review of the literature.
Maines E et al.
Hormones (athens, Greece), 2021
A Durable Response to Pembrolizumab in a Patient with Uterine Serous Carcinoma and Lynch Syndrome due to the MSH6 Germline Mutation.
T Danley K et al.
The Oncologist, 2021
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Hiraide T et al.
Clinical Genetics, 2021
Genetic alterations and their therapeutic implications in epithelial ovarian cancer.
Lapke N et al.
Bmc Cancer, 2021
Whole exome sequencing of fetal structural anomalies detected by ultrasonography.
Aoi H et al.
Journal of Human Genetics, 2021
Diverse genetic causes of polymicrogyria with epilepsy.
Unknown Author
Epilepsia, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Targeting FGFR in non-small cell lung cancer: implications from the landscape of clinically actionable aberrations of FGFR kinases.
Zhou Z et al.
Cancer Biology & Medicine, 2021
Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.
Hoefflin R et al.
Cancers, 2021
Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss.
Zhao C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021