Cargando…

Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy

Epilepsy is one of the most common neurological disorders in pediatric patients with other underlying neurological defects. Identifying the underlying etiology is crucial for better management of the disorder. We performed trio-whole exome sequencing in 221 pediatric patients with epilepsy. Probands...

Descripción completa

Detalles Bibliográficos
Autores principales:	Jiang, Tiejia, Gao, Jia, Jiang, Lihua, Xu, Lu, Zhao, Congying, Su, Xiaojun, Shen, Yaping, Gu, Weiyue, Kong, Xiaohong, Yang, Ying, Gao, Feng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8417468/ https://www.ncbi.nlm.nih.gov/pubmed/34489640 http://dx.doi.org/10.3389/fnmol.2021.699574

Ejemplares similares

Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing
por: Yang, Kai, et al.
Publicado: (2019)

Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing
por: Yan, Huifang, et al.
Publicado: (2021)

Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome
por: Jiang, TieJia, et al.
Publicado: (2018)

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
por: Zhu, Xiaolin, et al.
Publicado: (2015)

Whole exome sequencing and trio analysis to broaden the variant spectrum of genes in idiopathic hypogonadotropic hypogonadism
por: Zhang, Jian, et al.
Publicado: (2020)

Whole Exome-Trio Analysis Reveals Rare Variants Associated with Congenital Pouch Colon
por: Gupta, Sonal, et al.
Publicado: (2023)

Diagnostic yield of chromosomal microarray and trio whole exome sequencing in congenital brain anomalies
por: Fonova, E. A., et al.
Publicado: (2023)

Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder
por: Du, Xiujuan, et al.
Publicado: (2018)

Whole-exome sequencing in cervical adenocarcinoma in mainland Chinese patients
por: Zhang, Xinxin, et al.
Publicado: (2020)

Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients
por: Wang, Lei, et al.
Publicado: (2021)

Trio exome sequencing is highly relevant in prenatal diagnostics
por: Gabriel, Heinz, et al.
Publicado: (2021)

Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study
por: Duan, Jing, et al.
Publicado: (2022)

Using dried blood spot samples from a trio for linked-read whole-exome sequencing
por: Mortensen, Ólavur, et al.
Publicado: (2019)

Whole exome sequencing reveals novel somatic alterations in neuroblastoma patients with chemotherapy
por: Duan, Chao, et al.
Publicado: (2018)

Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy
por: Zhang, Linlin, et al.
Publicado: (2020)

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool
por: Tran Mau-Them, Frédéric, et al.
Publicado: (2023)

Exome-Based Trio Analysis for Diagnosis of the Cause of Congenital Severe Hemolytic Anemia in a Child
por: Rieneck, Klaus, et al.
Publicado: (2022)

Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia
por: Rees, E, et al.
Publicado: (2015)

Whole-Exome Sequencing in Family Trios Reveals De Novo Mutations Associated with Type 1 Diabetes Mellitus
por: Mousa, Mira, et al.
Publicado: (2023)

Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea
por: Tong, Wenjia, et al.
Publicado: (2018)

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases
por: Hiz Kurul, Semra, et al.
Publicado: (2021)

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study
por: Hebert, Anne, et al.
Publicado: (2022)

Whole-exome sequencing study of hypospadias
por: Chen, Zhongzhong, et al.
Publicado: (2023)

Exome sequencing to identify de novo mutations in sporadic ALS trios
por: Chesi, Alessandra, et al.
Publicado: (2013)

Uniparental disomy in a population of 32,067 clinical exome trios
por: Scuffins, Julie, et al.
Publicado: (2021)

A holistic approach to maximise diagnostic output in trio exome sequencing
por: von Hardenberg, Sandra, et al.
Publicado: (2023)

Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report
por: Eleftheriadou, Maria, et al.
Publicado: (2021)

Resolving inherited and de novo germline predisposing sequence variants by means of whole exome trio analyses in childhood hematological malignancies
por: Brozou, Triantafyllia, et al.
Publicado: (2023)

New insights from trio whole‐exome sequencing in the children with kidney disease: A single‐center retrospective cohort study
por: Chen, Yi, et al.
Publicado: (2023)

Clinical characteristics and associated factors of pediatric acute disseminated encephalomyelitis patients with MOG antibodies: a retrospective study in Hangzhou, China
por: Shen, Jue, et al.
Publicado: (2022)

Machine learning analysis of exome trios to contrast the genomic architecture of autism and schizophrenia
por: Sardaar, Sameer, et al.
Publicado: (2020)

Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome
por: Helbig, Ingo, et al.
Publicado: (2020)

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability
por: Hunt, David, et al.
Publicado: (2014)

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families
por: Al-Mubarak, Bashayer, et al.
Publicado: (2017)

Whole exome sequencing in ADHD trios from single and multi-incident families implicates new candidate genes and highlights polygenic transmission
por: Al-Mubarak, Bashayer R., et al.
Publicado: (2020)

Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases
por: Tran Mau‐Them, Frederic, et al.
Publicado: (2021)

Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family
por: Liu, Hong-Yan, et al.
Publicado: (2017)

Whole exome sequencing for diagnosis of hereditary thrombocytopenia
por: Mekchay, Ponthip, et al.
Publicado: (2020)

CTCs Detection and Whole-exome Sequencing Might Be Used to Differentiate Benign and Malignant Pulmonary Nodules
por: XU, Changdan, et al.
Publicado: (2023)

Longitudinally tracking personal physiomes for precision management of childhood epilepsy
por: Jiang, Peifang, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_aq2rcbj25qmodesaaou0s0qhsu