The Human Phenotype Ontology in 2021

Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu, +48

Nucleic Acids Research

Analyzing 2,589 child neurology telehealth encounters necessitated by the COVID-19 pandemic

Salvatore C. Rametta, Sara Fridinger, Alexander K. Gonzalez, +13

Neurology

Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals

Julie Xian, Shridhar Parthasarathy, Sarah M. Ruggiero, +51

Brain

Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders

Katherine Crawford, Julie Xian, Katherine L. Helbig, +13

Genetics in Medicine

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

Epilepsy Course and Developmental Trajectories in <i>STXBP1</i> -DEE

Ganna Balagura, Julie Xian, Antonella Riva, +55

Neurology Genetics

Delineating clinical and developmental outcomes in <i>STXBP1</i>-related disorders

Julie Xian, Kim Marie Thalwitzer, Jillian L. McKee, +16

Brain

Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome

Ingo Helbig, Giulia Barcia, Manuela Pendziwiat, +15

Annals of Clinical and Translational Neurology

A disease concept model for <i>STXBP1</i> ‐related disorders

Katie Rose Sullivan, Sarah M. Ruggiero, Julie Xian, +14

Epilepsia Open

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