Associated Papers
Familial Molecular Burden in Autism Spectrum Disorder: A Next-Generation Sequencing Study of Polish Affected Families.
Wawszczak-Kasza M et al.
International Journal of Molecular Sciences, 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
Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.
Wagner JT et al.
Frontiers in Molecular Biosciences, 2025
Landscape of Genetic Mutations in Appendiceal Cancers.
Constantin M et al.
Cancers, 2023
Transition from Animal-Based to Human Induced Pluripotent Stem Cells (iPSCs)-Based Models of Neurodevelopmental Disorders: Opportunities and Challenges.
Guerreiro S et al.
Cells, 2023
Next-Generation Sequencing-Directed Therapy in Patients with Metastatic Breast Cancer in Routine Clinical Practice.
Bruzas S et al.
Cancers, 2021
Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.
Scheipl S et al.
Therapeutic Advances in Medical Oncology, 2021
Germline and somatic genetic alterations in two first-degree relatives with appendiceal low-grade mucinous carcinoma peritonei.
King MC et al.
Clinical Case Reports, 2020
Mutation profiling in eight cases of vagal paragangliomas.
Kudryavtseva AV et al.
Bmc Medical Genomics, 2020
Identification of MicroRNA-Related Tumorigenesis Variants and Genes in the Cancer Genome Atlas (TCGA) Data.
Li C et al.
Genes, 2020
Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.
Hendricks A et al.
Cancers, 2020
A Human TSC1 Variant Screening Platform in Gabaergic Cortical Interneurons for Genotype to Phenotype Assessments.
Wundrach D et al.
Frontiers in Molecular Neuroscience, 2020
Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.
Schepici G et al.
Brain Sciences, 2019
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Comprehensive genomic analysis of patients with disorders of cerebral cortical development.
Wiszniewski W et al.
European Journal of Human Genetics : Ejhg, 2018
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
Rapid, ultra low coverage copy number profiling of cell-free DNA as a precision oncology screening strategy.
Hovelson DH et al.
Oncotarget, 2017
Identification of NCAN as a candidate gene for developmental dyslexia.
Einarsdottir E et al.
Scientific Reports, 2017
A novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm.
Casolari DA et al.
Scientific Reports, 2017
Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.
Padovan-Merhar OM et al.
Plos Genetics, 2016
Minute amounts of hamartin wildtype rescue the emergence of tuber-like lesions in conditional Tsc1 ablated mice.
Robens BK et al.
Neurobiology of Disease, 2016
TumorNext: A comprehensive tumor profiling assay that incorporates high resolution copy number analysis and germline status to improve testing accuracy.
Gray PN et al.
Oncotarget, 2016
A comparative assessment of clinical whole exome and transcriptome profiling across sequencing centers: implications for precision cancer medicine.
Van Allen EM et al.
Oncotarget, 2016
VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.
Lai Z et al.
Nucleic Acids Research, 2016
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
He KY et al.
Plos One, 2016
Systematic evaluation of underlying defects in DNA repair as an approach to case-only assessment of familial prostate cancer.
Nicolas E et al.
Oncotarget, 2015
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
Bahl S et al.
Molecular Autism, 2013
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
Hoogeveen-Westerveld M et al.
Human Mutation, 2011
Increased frequency of distinct TSC2 allelic variants in focal cortical dysplasias with balloon cells and mineralization.
Schönberger A et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2009
Hamartin variants that are frequent in focal dysplasias and cortical tubers have reduced tuberin binding and aberrant subcellular distribution in vitro.
Lugnier C et al.
Journal of Neuropathology and Experimental Neurology, 2009
Alterations of phosphatidylinositol 3-kinase pathway components in epilepsy-associated glioneuronal lesions.
Schick V et al.
Epilepsia, 2007
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
Jansen AC et al.
Annals of Neurology, 2006
Molecular neuropathology of epilepsy-associated glioneuronal malformations.
Becker AJ et al.
Journal of Neuropathology and Experimental Neurology, 2006
Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis.
Becker AJ et al.
Annals of Neurology, 2002
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.
van Slegtenhorst M et al.
Journal of Medical Genetics, 1999
Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.
Ali JB et al.
Journal of Medical Genetics, 1998
Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.
Kwiatkowska J et al.
Annals of Human Genetics, 1998
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.
Jones AC et al.
Human Molecular Genetics, 1997