Victoria McKay

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

Joanna Kennedy, David Goudie, Edward Blair et al. · Genetics in Medicine · 2018 · 111 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

Karen Stals, Matthew N. Wakeling, Júlia Baptista et al. · Prenatal Diagnosis · 2017 · 78 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals

Mira Kharbanda, Daniela T. Pilz, Susan Tomkins et al. · European Journal of Medical Genetics · 2016 · 67 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

Ddd Study, Fabiola Ceroni, Domingo Aguilera‐Garcia et al. · Human Genetics · 2018 · 57 citations · Full text

Medicine, Genetics, Ophthalmology +14

Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability

Mark Hamilton, Richard Caswell, Natalie Canham et al. · Journal of Medical Genetics · 2017 · 45 citations · Full text

Medicine, Genetics, Molecular Genetics +17