May, Patrick

Single-cell sequencing of human midbrain reveals glial activation and a Parkinson-specific neuronal state

Smajić, S., Prada-Medina, C. A., Landoulsi, Z., Ghelfi, J., Delcambre, S., Dietrich, C., Jarazo, J., Henck, J., Balachandran, S., Pachchek, S., et al. (2022) · Brain

Parkinson's Disease Mechanisms and TreatmentsNeuroinflammation and Neurodegeneration Mechanisms

Cited by 590

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Chia, R., Sabir, M. S., Bandres-Ciga, S., Saez-Atienzar, S., Reynolds, R. H., Gustavsson, E., Walton, R. L., Ahmed, S., Viollet, C., Ding, J., et al. (2021) · Nature Genetics

Parkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Cited by 438

Integrated multi-omics of the human gut microbiome in a case study of familial type 1 diabetes

Heintz-Buschart, A., May, P., Laczny, C. C., Lebrun, L. A., Bellora, C., Krishna, A., Wampach, L., Schneider, J. G., Hogan, A., de Beaufort, C., et al. (2016) · Nature Microbiology

Gut microbiota and healthOral microbiology and periodontitis research

Cited by 316

Birth mode is associated with earliest strain-conferred gut microbiome functions and immunostimulatory potential

Wampach, L., Heintz-Buschart, A., Fritz, J. V., Ramiro-Garcia, J., Habier, J., Herold, M., Narayanasamy, S., Kaysen, A., Hogan, A. H., Bindl, L., et al. (2018) · Nature Communications

Gut microbiota and healthInfant Nutrition and Health

Cited by 292

The phenotypic spectrum of SCN8A encephalopathy

Larsen, J., Carvill, G. L., Gardella, E., Kluger, G., Schmiedel, G., Barisic, N., Depienne, C., Brilstra, E., Mang, Y., Nielsen, J. E. K., et al. (2015) · Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 285

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications

Johannesen, K. M., Liu, Y., Koko, M., Gjerulfsen, C. E., Sonnenberg, L., Schubert, J., Fenger, C. D., Eltokhi, A., Rannap, M., Koch, N. A., et al. (2022) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 147

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

Heyne, H. O., Baez-Nieto, D., Iqbal, S., Palmer, D. S., Brunklaus, A., May, P., Collaborative, E., Johannesen, K. M., Lauxmann, S., Lemke, J. R., et al. (2020) · Science Translational Medicine

Ion channel regulation and functionGenomics and Rare Diseases

Cited by 140

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

Thomas, R. H., Zhang, L. M., Carvill, G. L., Archer, J. S., Heavin, S. B., Mandelstam, S. A., Craiu, D., Berkovic, S. F., Gill, D. S., Mefford, H. C., et al. (2015) · Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 100

Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups

Kaivola, K., Shah, Z., Chia, R., International LBD Genomics Consortium, Black, S. E., Gan-Or, Z., Keith, J., Masellis, M., Rogaeva, E., Brice, A., et al. (2022) · Brain

Parkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Cited by 65

Major changes of cell function and toxicant sensitivity in cultured cells undergoing mild, quasi-natural genetic drift

Gutbier, S., May, P., Berthelot, S., Krishna, A., Trefzer, T., Behbehani, M., Efremova, L., Delp, J., Gstraunthaler, G., Waldmann, T., et al. (2018) · Archives of Toxicology

Carcinogens and Genotoxicity AssessmentParkinson's Disease Mechanisms and Treatments

Cited by 49

Genomics 2 Proteins portal: A resource and discovery tool for linking genetic screening outputs to protein sequences and structures

Kwon, S., Safer, J., Nguyen, D. T., Hoksza, D., May, P., Arbesfeld, J. A., Rubin, A. F., Campbell, A. J., Burgin, A., & Iqbal, S. (2024) · Nature Methods

Genomics and Rare DiseasesProtein Structure and Dynamics

Cited by 29

Rare ABCA7 variants in 2 German families with Alzheimer disease

May, P., Pichler, S., Hartl, D., Bobbili, D. R., Mayhaus, M., Spaniol, C., Kurz, A., Balling, R., Schneider, J. G., & Riemenschneider, M. (2018) · Neurology Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 18

Multi-cohort machine learning identifies predictors of cognitive impairment in Parkinson’s disease

Loo, R. T. J., Pavelka, L., Mangone, G., Khoury, F., Vidailhet, M., Corvol, J.-C., Glaab, E., On behalf of the NCER-PD Consortium, Acharya, G., Aguayo, G., et al. (2025) · npj Digital Medicine

Parkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Cited by 9