Amna Z. Shah

CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance

Giulia Venturini, Anna M. Rose, Amna Z. Shah et al. · PLoS Genetics · 2012 · 125 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa

Anna M. Rose, Amna Z. Shah, Giulia Venturini et al. · Scientific Reports · 2016 · 56 citations · Full text

Medicine, Genetics, Molecular Genetics +13

EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones

Giovanna Alfano, Przemysław M. Kruczek, Amna Z. Shah et al. · PLoS ONE · 2016 · 55 citations · Full text

Medicine, Genetics, Molecular Biology +17

TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein

Christina Chakarova, Hemant Khanna, Amna Z. Shah et al. · Human Molecular Genetics · 2010 · 51 citations

Life Sciences, Cell Biology, Molecular Biology +17

Dominant <i>PRPF31</i> Mutations Are Hypostatic to a Recessive <i>CNOT3</i> Polymorphism in Retinitis Pigmentosa: A Novel Phenomenon of “Linked <i>Trans</i> -Acting Epistasis”

Anna M. Rose, Amna Z. Shah, Giulia Venturini et al. · Annals of Human Genetics · 2013 · 33 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13