Alexander T. Deng

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

Alistair T. Pagnamenta, Stefano Lise, Victoria Harrison et al. · Journal of Human Genetics · 2011 · 67 citations

Life Sciences, Genetics, Molecular Genetics +14

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

Kathleen A. Williamson, Hildegard Nikki Hall, Liusaidh J. Owen et al. · Genetics in Medicine · 2019 · 63 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush et al. · Nature Communications · 2023 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>SLC6A1</i> variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

Arthur Stefanski, Eduardo Pérez‐Palma, Tobias Brünger et al. · Brain · 2023 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15