Carissa Olds

Association of <i>MTOR</i> Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

Ghayda Mirzaa, Catarina D. Campbell, Nadia Solovieff et al. · JAMA Neurology · 2016 · 276 citations · Full text

Medicine, Molecular Genetics, Pediatrics +17

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Ghayda Mirzaa, Andrew E. Timms, Valerio Conti et al. · JCI Insight · 2016 · 190 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Lissencephaly: Expanded imaging and clinical classification

Nataliya Di Donato, Sara Chiari, Ghayda Mirzaa et al. · American Journal of Medical Genetics Part A · 2017 · 169 citations

Medicine, Genetics, Molecular Genetics +17

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

Nataliya Di Donato, Andrew E. Timms, Kimberly A. Aldinger et al. · Genetics in Medicine · 2018 · 136 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

Ghayda Mirzaa, Valerio Conti, Andrew E. Timms et al. · The Lancet Neurology · 2015 · 78 citations · Full text

Life Sciences, Genetics, Molecular Biology +12