Concepedia
Author
Julie Xian
Also Known As
36
Publications
1.9K
Citations
13
H-Index
0
Concepts
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All Concepts
1.7K
12
The Human Phenotype Ontology in 2021
Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu, +48
Nucleic Acids Research
2020
1.2K
Analyzing 2,589 child neurology telehealth encounters necessitated by the COVID-19 pandemic
Salvatore C. Rametta, Sara Fridinger, Alexander K. Gonzalez, +13
Neurology
132
Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals
Julie Xian, Shridhar Parthasarathy, Sarah M. Ruggiero, +51
Brain
2021
111
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders
Katherine Crawford, Julie Xian, Katherine L. Helbig, +13
Genetics in Medicine
67
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
Ludovica Montanucci, David Lewis‐Smith, Ryan L. Collins, +8
Nature Communications
2023
52
Epilepsy Course and Developmental Trajectories in <i>STXBP1</i> -DEE
Ganna Balagura, Julie Xian, Antonella Riva, +55
Neurology Genetics
2022
40
Delineating clinical and developmental outcomes in <i>STXBP1</i>-related disorders
Julie Xian, Kim Marie Thalwitzer, Jillian L. McKee, +16
28
Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome
Ingo Helbig, Giulia Barcia, Manuela Pendziwiat, +15
Annals of Clinical and Translational Neurology
24
A disease concept model for <i>STXBP1</i> ‐related disorders
Katie Rose Sullivan, Sarah M. Ruggiero, Julie Xian, +14
Epilepsia Open
23
Review and standard operating procedures for collection of biospecimens and analysis of biomarkers in<scp>new onset</scp>refractory status epilepticus
Aurélie Hanin, Jorge Cespedes, Yashwanth Pulluru, +14
Epilepsia
14
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