Author

Hisham Alkuraya

Observed names: Alkuraya, Hisham, H Alkuraya, H. Alkuraya, Hisham Al-Kuraya, Hisham S AlKuraya, Hisham S. Alkuraya, HishamS Alkuraya, Hisham S. Alkuraya

Observed institutions: Manipal Academy of Higher Education, Imam Mohammad ibn Saud Islamic University, King Faisal Specialist Hospital & Research Centre, King Saud University, King Abdulaziz Medical City, University of California San Diego, King Khaled Eye Specialist Hospital, National Guard Health Affairs, Kasturba Medical College, Manipal

OpenAlex ID: A5112324095

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

2017 · Dorota Monies, Mohamed Abouelhoda, et al. · Human Genetics · 309

PDF

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

2019 · Dorota Monies, Mohammed Abouelhoda, et al. · The American Journal of Human Genetics · 295

PDF

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

2012 · Leen Abu-Safieh, May Alrashed, et al. · Genome Research · 279

PDF

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

2016 · Nicola G. Ghazi, Emad B. Abboud, et al. · Human Genetics · 251

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

2011 · Mohammed A. Aldahmesh, Jawahir Y. Mohamed, et al. · The American Journal of Human Genetics · 191

PDF

Characterizing the morbid genome of ciliopathies

2016 · Ciliopathy WorkingGroup, Ranad Shaheen, et al. · Genome biology · 178

PDF

Expanding the genetic heterogeneity of intellectual disability

2017 · Shams Anazi, Sateesh Maddirevula, et al. · Human Genetics · 168

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

2014 · M. A. Aldahmesh, Y. Li, et al. · Human Molecular Genetics · 149

In search of triallelism in Bardet–Biedl syndrome

2012 · Leen Abu-Safieh, Shamsa Al-Anazi, et al. · European Journal of Human Genetics · 126

PDF

Mutations in LRPAP1 Are Associated with Severe Myopia in Humans

2013 · Mohammed A. Aldahmesh, Arif O. Khan, et al. · The American Journal of Human Genetics · 121

PDF

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

2015 · Nisha Patel, Mohammed A. Aldahmesh, et al. · Genetics in Medicine · 112

PDF

The morbid genome of ciliopathies: an update

2020 · Hanan E. Shamseldin, Ranad Shaheen, et al. · Genetics in Medicine · 109

The correlation between optical coherence tomographic features and severity of retinopathy, macular thickness and visual acuity in diabetic macular edema

2006 · Hisham Alkuraya, Dustan Kangave, et al. · International Ophthalmology · 107

Essential Role of ELOVL4 Protein in Very Long Chain Fatty Acid Synthesis and Retinal Function

2011 · Richard Harkewicz, Hongjun Du, et al. · Journal of Biological Chemistry · 96

PDF

Clinical and molecular characterisation of Bardet–Biedl syndrome in consanguineous populations: the power of homozygosity mapping

2009 · L Abu Safieh, M A Aldahmesh, et al. · Journal of Medical Genetics · 88

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome

2011 · Mohammed A Aldahmesh, Arif O Khan, et al. · Journal of Medical Genetics · 87

Molecular characterization of retinitis pigmentosa in Saudi Arabia.

2009 · Mohammed A Aldahmesh, Leen Abu Safieh, et al. · PubMed Central · 82

Expanding the phenome and variome of skeletal dysplasia

2018 · Sateesh Maddirevula, Saud Alsahli, et al. · Genetics in Medicine · 75

Congenital glaucoma and CYP1B1: an old story revisited

2018 · Hessa S. Alsaif, Arif O. Khan, et al. · Human Genetics · 53

Exome-based case–control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy

2015 · Corina Shtir, Mohammed A. Aldahmesh, et al. · Human Genetics · 52

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

2019 · Dorota Monies, Mohammed Abouelhoda, et al. · The American Journal of Human Genetics · 45

PDF

Mutation of IGFBP7 Causes Upregulation of BRAF/MEK/ERK Pathway and Familial Retinal Arterial Macroaneurysms

2011 · Leen Abu-Safieh, Emad B. Abboud, et al. · The American Journal of Human Genetics · 44

PDF

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases

2023 · Lama AlAbdi, Hanan E. Shamseldin, et al. · Genome Medicine · 43

PDF

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

2023 · Lama AlAbdi, Sateesh Maddirevula, et al. · Nature Communications · 43

PDF

Current Indications and Resultant Complications of Evisceration

2007 · Imtiaz A. Chaudhry, Hisham S AlKuraya, et al. · Ophthalmic Epidemiology · 39

Works count: 56

Citation count: 3,353

H-index: 26

I10-index: 34