Alison M. Muir

<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Konrad Platzer, Hongjie Yuan, Hannah M. Schutz et al. · Journal of Medical Genetics · 2017 · 249 citations · Full text

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 236 citations · Full text

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

Andrew E. Fry, Katherine A. Fawcett, Nathanel Zelnik et al. · Brain · 2017 · 99 citations · Full text

Neurogenomics, Brain Development, Genetics +18

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

Jennifer N. Dines, Katie Golden‐Grant, Amy Lacroix et al. · Genetics in Medicine · 2018 · 69 citations · Full text

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

Raphaël Carapito, Ekaterina L. Ivanova, Aurore Morlon et al. · The American Journal of Human Genetics · 2019 · 66 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +5