Lisa Robertson

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Víctor Faùndes, William G. Newman, Laura Bernardini et al. · The American Journal of Human Genetics · 2017 · 278 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

Markus Zweier, Anne Gregor, Christiane Zweier et al. · Human Mutation · 2010 · 181 citations

Life Sciences, Genetics, Molecular Genetics +16

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

David Parry, Carol-Anne Martin, Philip Greene et al. · Genetics in Medicine · 2020 · 55 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

Francesca Wicks, Ramya Srinivasan, Sarah Wynn et al. · The Lancet Psychiatry · 2022 · 52 citations · Full text

Life Sciences, Genetics, Psychiatry +17

Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

Neeti Ghali, Duncan Baker, Angela F. Brady et al. · Genetics in Medicine · 2019 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8