Sarah E. McKeown

发表

Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data

Alex S. Felmeister, R. Krause, I. Helbig, 2021, European Journal of Human Genetics.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Michael T. Zimmermann, Rebecca C. Spillmann, Q. K. Tan, 2020, Nature Genetics.

A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation

Alex S. Felmeister, Colin A. Ellis, I. Helbig, 2020, Genetics in Medicine.

Correction: A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation

Alex S. Felmeister, Colin A. Ellis, I. Helbig, 2020, Genetics in Medicine.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

R. Pfundt, D. Smedley, S. Robertson, 2021, American Journal of Human Genetics.

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies

Colin A. Ellis, R. Krause, Manuela Pendziwiat, 2020, American journal of human genetics.

One year of child neurology telemedicine: a data-driven analysis of 14,820 encounters

Ethan M. Goldberg, B. Banwell, I. Helbig, 2021, medRxiv.

A Gene Replacement Humanization Platform for Rapid Functional Testing of Clinical Variants in Epilepsy-associated STXBP1

M. Wood, M. Bainbridge, K. McCormick, 2021, bioRxiv.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Michael T. Zimmermann, Rebecca C. Spillmann, Q. K. Tan, 2021, Nature Genetics.