Associated Papers
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
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Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
40684348 (PubMed )
Supplement: mmc6.xlsx › mmc6
Structural Organization of the Retriever-CCC Endosomal Recycling Complex.
Boesch DJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Phenotypic and Genotypic Spectrum of Early-Onset Developmental and Epileptic Encephalopathies-Data from a Romanian Cohort.
Riza AL et al.
Genes, 2022
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 2017
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
Gardiner AR et al.
Brain : a Journal of Neurology, 2015
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.
Arsov T et al.
Annals of Neurology, 2012
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