相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disorders
Samantha J. Bryen et al.
CLINICAL GENETICS (2023)
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder
Martin Broly et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2022)
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
Sarah E. M. Stephenson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2022)
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila
Hyung-Lok Chung et al.
HUMAN MOLECULAR GENETICS (2022)
Transcriptome analysis provides critical answers to the variants of uncertain significance conundrum
Mackenzie D. Postel et al.
HUMAN MUTATION (2022)
A minimal role for synonymous variation in human disease
Ryan S. Dhindsa et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2022)
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies
Gabrielle Lemire et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2021)
Case Report: A Synonymous Mutation in NF1 Located at the Non-canonical Splicing Site Leading to Exon 45 Skipping
Pengzhen Jin et al.
FRONTIERS IN GENETICS (2021)
Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment
Sara Cabet et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2020)
Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects
Jonathan Marquez et al.
JOURNAL OF CLINICAL INVESTIGATION (2020)
Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders
Chao Gao et al.
FRONTIERS IN GENETICS (2019)
A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing
Yixi Sun et al.
FRONTIERS IN GENETICS (2019)
A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy
Thenral S. Geetha et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2018)
Bicodon bias can determine the role of synonymous SNPs in human diseases
Christina McCarthy et al.
BMC GENOMICS (2017)
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy
Tamar Harel et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator
Rafal Bartoszewski et al.
CELLULAR & MOLECULAR BIOLOGY LETTERS (2016)
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia
Atsushi Takata et al.
NEURON (2016)
dPob/EMC is essential for biosynthesis of rhodopsin and other multi-pass membrane proteins in Drosophila photoreceptors
Takunori Satoh et al.
ELIFE (2015)
Synonymous Mutations Frequently Act as Driver Mutations in Human Cancers
Fran Supek et al.
CELL (2014)
Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays
John B. Moeschler et al.
PEDIATRICS (2014)
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
Leen Abu-Safieh et al.
GENOME RESEARCH (2013)