Monica Gagliardi

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 et al. · The American Journal of Human Genetics · 2019 · 298 citations · Full text

Allelic Variant, Ultra-rare Genetic Variation, Whole-exome Sequencing Study +10

LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study

Marialuisa Quadri, Wim Mandemakers, Martyna M. Grochowska et al. · The Lancet Neurology · 2018 · 159 citations

Neurodegenerative Diseases, Genetic Disorder, Genetics +9

Homozygous c.649dupC mutation in <i>PRRT2</i> worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences

Angelo Labate, Patrizia Tarantino, Maurizio Viri et al. · Epilepsia · 2012 · 94 citations

Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson’s Disease

Cloé Domenighetti, Pierre‐Emmanuel Sugier, Ashwin Ashok Kumar Sreelatha et al. · Journal of Parkinson s Disease · 2021 · 66 citations · Full text

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa et al. · The American Journal of Human Genetics · 2021 · 58 citations · Full text

Mendelian Disorder, Female Infertility, Whole-exome Sequencing Study +9