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Search for publications relevant for "whole-exome sequencing"
whole-exome sequencing
Publication
Class
Person
Publication
Programmes
publication
Lessons from whole-exome sequencing in MODYX families
2014 |
Second Faculty of Medicine
publication
NFKB2 Mutation Diagnosed by Whole Exome Sequencing (WES) in a Patient with Complex Phenotype and Hypogammaglobulinemia
2019 |
Second Faculty of Medicine
publication
Whole Exome Sequencing of Epithelial Ovarian Carcinomas Differing in Resistance to Platinum Therapy
2022 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Pilsen, Third Faculty of Medicine
publication
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
Publication without faculty affiliation
publication
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders
2024 |
Second Faculty of Medicine
publication
Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders
2023 |
First Faculty of Medicine
publication
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease
2023 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine
publication
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel
2024 |
Second Faculty of Medicine
publication
Whole exome sequencing identifies novel germline variants of SLC15A4 gene as potentially cancer predisposing in familial colorectal cancer
2022 |
Faculty of Medicine in Pilsen
publication
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
2022 |
Second Faculty of Medicine
publication
Whole Exome Sequencing Identifies APCDD1 and HDAC5 Genes as Potentially Cancer Predisposing in Familial Colorectal Cancer
2021 |
Faculty of Medicine in Pilsen
publication
Diagnostic Utility of Exome Sequencing for Kidney Disease
2019 |
First Faculty of Medicine
publication
A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio-based exome sequencing: A case report
2023 |
Second Faculty of Medicine
publication
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
2012 |
First Faculty of Medicine
publication
Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases
2020 |
Second Faculty of Medicine
publication
Exome sequencing for identification of disease genes for rare syndromes. Experiences from Hamburg
2014 |
Second Faculty of Medicine
publication
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing
2017 |
First Faculty of Medicine
publication
Whole Exome Sequencing Analysis of ABCC8 and ABCD2 Genes Associating With Clinical Course of Breast Carcinoma
2015 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
2020 |
Second Faculty of Medicine
publication
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia
2021 |
First Faculty of Medicine
publication
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
2021 |
Central Library of Charles University
publication
Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer
2022 |
Faculty of Medicine in Pilsen
publication
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
2019 |
Second Faculty of Medicine
publication
Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia
2019 |
Second Faculty of Medicine
publication
Whole Exome Sequencing of Aberrant Plasma Cells in a Patient with Multiple Myeloma Minimal Residual Disease
2017 |
Publication without faculty affiliation
publication
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
2021 |
Second Faculty of Medicine
publication
Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer
2015 |
First Faculty of Medicine
publication
Exome Sequencing of Paired Colorectal Carcinomas and Synchronous Liver Metastases for Prognosis and Therapy Prediction
2023 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease
2018 |
First Faculty of Medicine
publication
Prognostic potential of whole exome sequencing in the clinical management of metachronous colorectal cancer liver metastases
2023 |
Faculty of Medicine in Pilsen