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。The phenotype of homozygous EMC10 variant: A new syndrome with intellectual disability and language impairment
Eliana Haddad-Eid et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2022)
Exome sequencing as first-tier test for fetuses with severe central nervous system structural anomalies
Y. Yaron et al.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY (2022)
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features
Diane D. Shao et al.
GENETICS IN MEDICINE (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)
EMC10homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay
Muhammad Umair et al.
CLINICAL GENETICS (2020)
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
Ekin Ucuncu et al.
NATURE COMMUNICATIONS (2020)
Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested
Lina Basel Salmon et al.
GENETICS IN MEDICINE (2019)
The ER membrane protein complex is a transmembrane domain insertase
Alina Guna et al.
SCIENCE (2018)
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)
Biallelic variants in KIF14 cause intellectual disability with microcephaly
Periklis Makrythanasis et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2018)
EMC Is Required to Initiate Accurate Membrane Protein Topogenesis
Patrick J. Chitwood et al.
CELL (2018)
Lessons learned from additional research analyses of unsolved clinical exome cases
Mohammad K. Eldomery et al.
GENOME MEDICINE (2017)
EMC10 (Endoplasmic Reticulum Membrane Protein Complex Subunit 10) Is a Bone Marrow-Derived Angiogenic Growth Factor Promoting Tissue Repair After Myocardial Infarction
Marc R. Reboll et al.
CIRCULATION (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)
High-throughput discovery of novel developmental phenotypes
Mary E. Dickinson et al.
NATURE (2016)
There's Something Wrong with my MAM; the ER-Mitochondria Axis and Neurodegenerative Diseases
Sebastien Paillusson et al.
TRENDS IN NEUROSCIENCES (2016)
GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
Nara Sobreira et al.
HUMAN MUTATION (2015)
dPob/EMC is essential for biosynthesis of rhodopsin and other multi-pass membrane proteins in Drosophila photoreceptors
Takunori Satoh et al.
ELIFE (2015)
A Conserved Endoplasmic Reticulum Membrane Protein Complex (EMC) Facilitates Phospholipid Transfer from the ER to Mitochondria
Sujoy Lahiri et al.
PLOS BIOLOGY (2014)
Defining human ERAD networks through an integrative mapping strategy
John C. Christianson et al.
NATURE CELL BIOLOGY (2012)
分享论文
