Associated Papers
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
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Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Huang Y et al.
Frontiers in Genetics, 2023
36923788 (PubMed )
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Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy.
Chuan Z et al.
Frontiers in Genetics, 2022
35571021 (PubMed )
Supplement: Table1.XLSX › Table_S1
Structural comparison of GLUT1 to GLUT3 reveal transport regulation mechanism in sugar porter family.
Custódio TF et al.
Life Science Alliance, 2021
33536238 (PubMed )
Supplement: LSA-2020-00858_review_history.pdf
Clinical Forms and GRIN2A Genotype of Severe End of Epileptic-Aphasia Spectrum Disorder.
Li X et al.
Frontiers in Pediatrics, 2020
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 2017
A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.
Lee EE et al.
Molecular Cell, 2015
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.
Arsov T et al.
Annals of Neurology, 2012
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