Leen Abu‐Safieh

A Human Homolog of Yeast Pre-mRNA Splicing Gene, PRP31, Underlies Autosomal Dominant Retinitis Pigmentosa on Chromosome 19q13.4 (RP11)

Eranga N. Vithana, Leen Abu‐Safieh, Maxine Allen et al. · Molecular Cell · 2001 · 333 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

Leen Abu‐Safieh, May Alrashed, Shamsa Anazi et al. · Genome Research · 2012 · 283 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Expression of<i>PRPF31</i>mRNA in Patients with Autosomal Dominant Retinitis Pigmentosa: A Molecular Clue for Incomplete Penetrance?

Eranga N. Vithana, Leen Abu‐Safieh, Lucia Pelosini et al. · Investigative Ophthalmology & Visual Science · 2003 · 129 citations

Medicine, Genetics, Molecular Genetics +13

In search of triallelism in Bardet–Biedl syndrome

Leen Abu‐Safieh, Shamsa Al-Anazi, Lama AlAbdi et al. · European Journal of Human Genetics · 2012 · 124 citations

Life Sciences, Genetics, Human Genetics +1

Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19

Gundula Povysil, Guillaume Butler‐Laporte, Ning Shang et al. · Journal of Clinical Investigation · 2021 · 70 citations · Full text

Life Sciences, Genetics, Immunology +17