Hisham Alkuraya

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Dorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed et al. · Human Genetics · 2017 · 309 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Dorota Monies, Mohammed Abouelhoda, Mirna Assoum et al. · The American Journal of Human Genetics · 2019 · 283 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial

Nicola G. Ghazi, Emad B. Abboud, Sawsan R. Nowilaty et al. · Human Genetics · 2016 · 240 citations

Medicine, Biotechnology, Ophthalmology +10

Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia

Mohammed A. Aldahmesh, Jawahir Y. Mohamed, Hisham Alkuraya et al. · The American Journal of Human Genetics · 2011 · 187 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15