Joanna Kennedy

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Joanna Kennedy, David Goudie, Edward Blair et al. · Genetics in Medicine · 2018 · 105 citations · Full text

Pathogenic Kat6a Variants, Kat6a Syndrome, Genetics +6

A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.

Robert Henderson, Kathleen A. Williamson, Joanna Kennedy et al. · PubMed · 2009 · 75 citations · Full text

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders

Jacob R. Stolz, Kendall M. Foote, Hermine E. Veenstra‐Knol et al. · The American Journal of Human Genetics · 2021 · 46 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Brain Development +10

TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia

Luis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian et al. · Brain · 2022 · 35 citations · Full text

Genetics, Molecular Biology, Molecular Genetics +16

De novo variants in CNOT3 cause a variable neurodevelopmental disorder

R. J. Martin, Miranda Splitt, David Geneviève et al. · European Journal of Human Genetics · 2019 · 31 citations · Full text

Neurodevelopmental Disorders, Developmental Anomaly, Developmental Biology +10