H
Hisham Alkuraya
Researcher at Imam Muhammad ibn Saud Islamic University
Publications - 34
Citations - 2310
Hisham Alkuraya is an academic researcher from Imam Muhammad ibn Saud Islamic University. The author has contributed to research in topics: Exome sequencing & Genetic heterogeneity. The author has an hindex of 21, co-authored 34 publications receiving 1862 citations. Previous affiliations of Hisham Alkuraya include King Saud University & Islamic University.
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Journal ArticleDOI
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
Leen Abu-Safieh,May Alrashed,May Alrashed,Shamsa Anazi,Hisham Alkuraya,Arif O. Khan,Mohammed Al-Owain,Jawahir Al-Zahrani,Lama Al-Abdi,Mais Hashem,Salwa Al-Tarimi,Mohammed-Adeeb Sebai,Ahmed Shamia,Mohamed D. Ray-Zack,Malik Nassan,Zuhair N. Al-Hassnan,Zuhair Rahbeeni,Saad Waheeb,Saad Waheeb,Abdullah S. Al-Kharashi,Emad B. Abboud,Selwa A.F. Al-Hazzaa,Selwa A.F. Al-Hazzaa,Fowzan S. Alkuraya,Fowzan S. Alkuraya +24 more
TL;DR: In this paper, a large cohort of nearly 150 retinal dystrophy (RD) families was used to identify the likely causative genetic lesion in the majority of cases and revealed six novel candidate disease genes (C21orf2, EMC1, KIAA1549, GPR125, ACBD5, and DTHD1) in the context of syndromic forms of RD that are described for the first time.
Journal ArticleDOI
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Dorota Monies,Mohamed Abouelhoda,Moeenaldeen Al-Sayed,Zuhair N. Al-Hassnan,Maha Alotaibi,Husam R. Kayyali,Mohammed Al-Owain,Ayaz Shah,Zuhair Rahbeeni,Mohammad A. Al-Muhaizea,Hamad Al-Zaidan,Edward Cupler,Saeed Bohlega,Eissa Faqeih,Maha Faden,Banan Al-Younes,Dyala Jaroudi,Ewa Goljan,Hadeel Elbardisy,Asma Akilan,Renad Albar,Hesham Aldhalaan,Shamshad Gulab,Aziza Chedrawi,Bandar K. Al Saud,Wesam Kurdi,Nawal Makhseed,Tahani Alqasim,Heba Y. El Khashab,Hamoud Al-Mousa,Amal Alhashem,Imaduddin Kanaan,Talal Algoufi,Khalid Alsaleem,Talal A. Basha,Fathiya Al-Murshedi,Sameena Khan,Adila Al-Kindy,Maha Alnemer,Sami Al-Hajjar,Suad Alyamani,Hasan Al-Dhekri,Ali Al-Mehaidib,Rand Arnaout,Omar Dabbagh,Mohammad Shagrani,Dieter C. Broering,Maha Tulbah,Amal Alqassmi,Maisoon Almugbel,Mohammed AlQuaiz,Abdulaziz Al-Saman,Khalid Al-Thihli,Raashda A Sulaiman,Wajeeh Aldekhail,Abeer Al-Saegh,Fahad A. Bashiri,Alya Qari,Suzan Alhomadi,Hisham Alkuraya,M. Al-Sebayel,Muddathir H. Hamad,Laszlo Szonyi,Faisal Abaalkhail,Sulaiman M. Al-Mayouf,Hamad Al-Mojalli,Khalid S. Alqadi,Hussien Elsiesy,Taghreed Shuaib,Mohammed Zain Seidahmed,Ibraheem F. Abosoudah,Hana Akleh,A. Al-Ghonaium,Turki M. Alkharfy,Fuad Al Mutairi,Wafa Eyaid,Abdullah Alshanbary,Farrukh Sheikh,Fahad I. Alsohaibani,Abdullah Alsonbul,Saeed Al Tala,Soher Balkhy,Randa Bassiouni,Ahmed S Alenizi,Maged H. Hussein,Saeed Hassan,Mohamed Ibrahim Khalil,Brahim Tabarki,Saad AlShahwan,Amira Oshi,Yasser Sabr,Saad Alsaadoun,Mustafa A. Salih,Sarar Mohamed,Habiba Sultana,Abdullah Tamim,Moayad El-Haj,Saif Alshahrani,Dalal K. Bubshait,Majid Alfadhel,Tariq Faquih,Mohamed El-Kalioby,Shazia Subhani,Zeeshan Shah,Nabil Moghrabi,Brian F. Meyer,Fowzan S. Alkuraya,Fowzan S. Alkuraya +107 more
TL;DR: The experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes suggests that most “negative” clinical exome tests are unsolved due to interpretation rather than technical limitations.
Journal ArticleDOI
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,Hisham Alkuraya,Abdulrahman Alhommadi,Huimin Cai,Rui Hou,Wen-Tao Deng,Sanford L. Boye,Abdulrahman Al-Maghamsi,Fahad Al Saikhan,Hassan Al-Dhibi,David G. Birch,Christopher Chung,Dilek Colak,Matthew M. LaVail,Douglas Vollrath,Kirsten E. Erger,Wenqiu Wang,Thomas J. Conlon,Kang Zhang,Kang Zhang,William W. Hauswirth,Fowzan S. Alkuraya +23 more
TL;DR: Gene therapy for MERTK-related RP using careful subretinal injection of rAAV2-VMD2-hMERTK is not associated with major side effects and may result in clinical improvement in a subset of patients, based on 2-year follow-up.
Journal ArticleDOI
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
Dorota Monies,M. Abouelhoda,Mirna Assoum,Nabil Moghrabi,Rafiullah Rafiullah,Naif A.M. Almontashiri,Mohammed Al-Owain,Hamad Al-Zaidan,Moeen Al-Sayed,Shazia Subhani,Edward Cupler,Maha Faden,Amal Alhashem,Alya Qari,Aziza Chedrawi,Hisham Aldhalaan,Wesam Kurdi,Sameena Khan,Zuhair Rahbeeni,Maha Alotaibi,Ewa Goljan,Hadeel Elbardisy,Mohamed El-Kalioby,Zeeshan Shah,Hibah Alruwaili,Amal Jaafar,Ranad Albar,Asma Akilan,Hamsa T. Tayeb,Asma I. Tahir,Mohammed Fawzy,Mohammed Nasr,Shaza Makki,Abdullah Alfaifi,Hanna Akleh,Suad Al Yamani,Dalal K. Bubshait,Mohammed Mahnashi,Talal A. Basha,Afaf Alsagheir,Musad Abu Khaled,Khalid Alsaleem,Maisoon Almugbel,Manal Badawi,Fahad A. Bashiri,Saeed Bohlega,Raashida Sulaiman,Ehab Tous,Syed Ahmed,Talal Algoufi,Hamoud Al-Mousa,Emadia Alaki,Susan Alhumaidi,Hadeel Alghamdi,Malak Alghamdi,Ahmed Sahly,Shapar Nahrir,Ali Al-Ahmari,Hisham Alkuraya,Ali Al-Mehaidib,Mohammed Abanemai,Fahad Alsohaibaini,Bandar Al-Saud,Rand Arnaout,Ghada M H Abdel-Salam,Hasan Al-Dhekri,Suzan A AlKhater,Khalid S. Alqadi,Essam Al-Sabban,Turki Alshareef,Khalid Awartani,Hanaa Banjar,Nada Alsahan,Ibraheem F. Abosoudah,Abdullah Alashwal,Wajeeh Aldekhail,Sami Al-Hajjar,Sulaiman M. Al-Mayouf,Abdulaziz Alsemari,Walaa Alshuaibi,Saeed Altala,Abdulhadi Altalhi,Salah Baz,Muddathir H Hamad,Tariq Abalkhail,Badi Alenazi,Alya Alkaff,Fahad Almohareb,Fuad Al Mutairi,Fuad Al Mutairi,Mona Alsaleh,Abdullah Alsonbul,Somaya Alzelaye,Shakir Bahzad,Abdulaziz Bin Manee,Ola Jarrad,Neama Meriki,Bassem Albeirouti,Amal Alqasmi,Mohammed AlBalwi,Nawal Makhseed,Saeed Hassan,Isam Salih,Mustafa A. Salih,Marwan Shaheen,Saadeh Sermin,Shamsad Shahrukh,Shahrukh K. Hashmi,Ayman Shawli,Ameen Tajuddin,Abdullah Tamim,Ahmed Alnahari,Ibrahim Ghemlas,Maged H. Hussein,Sami Wali,Hatem Murad,Brian F. Meyer,Fowzan S. Alkuraya,Fowzan S. Alkuraya +118 more
TL;DR: The influence of a predominantly autosomal-recessive landscape on the clinical utility of rapid sequencing (Flash Exome) is described and the cohort's genotypic and phenotypic data represent a unique resource that can contribute to improved variant interpretation through data sharing.
Journal ArticleDOI
Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia
Mohammed A. Aldahmesh,Jawahir Y. Mohamed,Hisham Alkuraya,Ishwar Chander Verma,Ratna Dua Puri,Ayodele A. Alaiya,William B. Rizzo,Fowzan S. Alkuraya,Fowzan S. Alkuraya +8 more
TL;DR: These findings identify recessive mutations in ELOVL4 as the cause of a neuro-ichthyotic disease and emphasize the importance of VLCFA synthesis in brain and cutaneous development.