Lisa‐Marie Niestroj

A cross-disorder dosage sensitivity map of the human genome

Ryan L. Collins, Joseph Glessner, Eleonora Porcu et al. · Cell · 2022 · 341 citations · Full text

Genetics, Pharmacogenomics, Genomics +3

CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development

Scott Demarest, Heather E. Olson, Angela Moss et al. · Epilepsia · 2019 · 158 citations · Full text

Identification of pathogenic variant enriched regions across genes and gene families

Eduardo Pérez‐Palma, Patrick May, Sumaiya Iqbal et al. · Genome Research · 2019 · 79 citations · Full text

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

Lisa‐Marie Niestroj, Eduardo Pérez‐Palma, Daniel P. Howrigan et al. · Brain · 2020 · 75 citations · Full text

Distinct genetic variation and heterogeneity of the Iranian population

Zohreh Mehrjoo, Zohreh Fattahi, Maryam Beheshtian et al. · PLoS Genetics · 2019 · 60 citations · Full text

Phenotypic Variation, Genetic Testing, Genetics +18