Patrick May

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The Spectrum of de novo Variants in Neurodevelopmental Disorders with Epilepsy

P. Striano, J. Kosmicki, Manuela Pendziwiat, 2017, bioRxiv.

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.

Colin A. Ellis, M. Daly, I. Scheffer, 2020, Brain : a journal of neurology.

author-version of: De novo variants in neurodevelopmental disorders with epilepsy

J. Serratosa, J. Kosmicki, Manuela Pendziwiat, 2022 .

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

Ethan M. Goldberg, P. May, P. Striano, 2022, Neurology.

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Maja Steinlin, Markus Wolff, Holger Lerche, 2015, Nature Genetics.

Trans-ancestry polygenic models for the prediction of LDL blood levels: an analysis of the United Kingdom Biobank and Taiwan Biobank

Tzung-Chien Hsieh, D. Bobbili, R. Aldisi, 2023, Frontiers in genetics.

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

M. Daly, P. May, R. Krause, 2020, Genome Medicine.

Burden analysis of missense variants in 1,330 disease-associated genes on 3D provides insights into the mutation effects

M. Daly, P. May, K. Lage, 2019 .