Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

Rosemary Burgess, I. D. Millar, Bart P. Leroy, +11

The American Journal of Human Genetics

Ocular DiseaseOphthalmologyGenetic DisorderGeneticsPathology +5

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, +234

The American Journal of Human Genetics

Allelic VariantUltra-rare Genetic VariationWhole-exome Sequencing StudyGeneticsGenetic Disorder +8

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

Andrew S. Allen, Susannah T. Bellows, Samuel F. Berkovic, +91

The Lancet Neurology

Allelic VariantUltra-rare Genetic VariationMedicineGeneticsGenetic Disorder +6

EphB Receptor-binding Peptides Identified by Phage Display Enable Design of an Antagonist with Ephrin-like Affinity

Mitchell Koolpe, Rosemary Burgess, Monique Dail, +1

Journal of Biological Chemistry

Genetic epilepsy with febrile seizures plus

Yuehua Zhang, Rosemary Burgess, Jodie P. Malone, +18

Neurology

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Rosemary Burgess, Shuyu Wang, Amy McTague, +16

Annals of Neurology

Familial cortical dysplasia type <scp>IIA</scp> caused by a germline mutation in <i><scp>DEPDC</scp>5</i>

Thomas Scerri, Jessica R. Riseley, Greta Gillies, +16

Annals of Clinical and Translational Neurology

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

Michael S. Hildebrand, Nicole G. Griffin, John A. Damiano, +16

The American Journal of Human Genetics

Molecular NeuroscienceDevelopmental BiologyNeuroanatomyNeuroscienceCentral Nervous System +5

Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes

Line Skotte, João Fadista, Jonas Bybjerg‐Grauholm, +35

Brain

NeurogenomicsBrain DevelopmentNeurological DisorderGeneticsSynaptic Transmission +25

The WD40 Repeat Protein Fritz Links Cytoskeletal Planar Polarity to Frizzled Subcellular Localization in the Drosophila Epidermis

Simon Collier, Haeryun Lee, Rosemary Burgess, +1

Genetics