Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia
Aldahmesh, Mohammed A., Mohamed, Jawahir Y., Alkuraya, Hisham S., Verma, Ishwar C., Puri, Ratna D., Alaiya, Ayodele A., Rizzo, William B., Alkuraya, Fowzan S.
Published in American journal of human genetics (09.12.2011)
Published in American journal of human genetics (09.12.2011)
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Journal Article
Lack of correlation between diabetic macular edema and thickness of the peripapillary retinal nerve fibre layer
Alkuraya, Hisham, Al-Gehedan, Saeed, Alsharif, Abdulrahman, Alasbali, Tariq, Lotfy, Nancy, Khandekar, Rajiv
Published in Middle East African journal of ophthalmology (01.07.2016)
Published in Middle East African journal of ophthalmology (01.07.2016)
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Journal Article
Current Indications and Resultant Complications of Evisceration
Chaudhry, Imtiaz A., AlKuraya, Hisham S, Shamsi, Farrukh A., Elzaridi, Elsanusi, Riley, Fenwick C.
Published in Ophthalmic epidemiology (01.01.2007)
Published in Ophthalmic epidemiology (01.01.2007)
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Journal Article
Ocular manifestations in Kabuki syndrome: the first report from Saudi Arabia
Chaudhry, Imtiaz A., Shamsi, Farrukh A., Alkuraya, Hisham S., Al-Sharif, Abdulrahman
Published in International ophthalmology (01.04.2008)
Published in International ophthalmology (01.04.2008)
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Journal Article
Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans
Shamseldin, Hanan E., Smith, Laura L., Kentab, Amal, Alkhalidi, Hisham, Summers, Brady, Alsedairy, Haifa, Xiong, Yong, Gupta, Vandana A., Alkuraya, Fowzan S.
Published in Human genetics (01.01.2016)
Published in Human genetics (01.01.2016)
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Journal Article
Front Cover
Alkuraya, Hisham, Patel, Nisha, Ibrahim, Niema, Al Ghamdi, Bandar, Alsulaiman, Sulaiman M., Nowilaty, Sawsan R., Abboud, Emad, Alturki, Ramadan, Alkharashi, Abdullah, Eyaid, Wafaa, Almasseri, Zainab, Alzaidan, Hamad, Alotaibi, Mohammed D., Abu El‐Asrar, Ahmed M., Alamro, Bandar, Helaby, Rana, Elshaer, Amani, Almontashiri, Naif A.M., Al‐Hussaini, Abdulrahman A., Alkuraya, Fowzan S.
Published in Clinical genetics (01.03.2020)
Published in Clinical genetics (01.03.2020)
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Journal Article
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
Abu-Safieh, Leen, Alrashed, May, Anazi, Shamsa, Alkuraya, Hisham, Khan, Arif O, Al-Owain, Mohammed, Al-Zahrani, Jawahir, Al-Abdi, Lama, Hashem, Mais, Al-Tarimi, Salwa, Sebai, Mohammed-Adeeb, Shamia, Ahmed, Ray-Zack, Mohamed D, Nassan, Malik, Al-Hassnan, Zuhair N, Rahbeeni, Zuhair, Waheeb, Saad, Alkharashi, Abdullah, Abboud, Emad, Al-Hazzaa, Selwa A F, Alkuraya, Fowzan S
Published in Genome research (01.02.2013)
Published in Genome research (01.02.2013)
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Journal Article
Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial
Ghazi, Nicola G., Abboud, Emad B., Nowilaty, Sawsan R., Alkuraya, Hisham, Alhommadi, Abdulrahman, Cai, Huimin, Hou, Rui, Deng, Wen-Tao, Boye, Sanford L., Almaghamsi, Abdulrahman, Al Saikhan, Fahad, Al-Dhibi, Hassan, Birch, David, Chung, Christopher, Colak, Dilek, LaVail, Matthew M., Vollrath, Douglas, Erger, Kirsten, Wang, Wenqiu, Conlon, Thomas, Zhang, Kang, Hauswirth, William, Alkuraya, Fowzan S.
Published in Human genetics (01.03.2016)
Published in Human genetics (01.03.2016)
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Journal Article
Expanding the genetic heterogeneity of intellectual disability
Anazi, Shams, Maddirevula, Sateesh, Salpietro, Vincenzo, Asi, Yasmine T., Alsahli, Saud, Alhashem, Amal, Shamseldin, Hanan E., AlZahrani, Fatema, Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous M., Hashem, Mais, Alhashmi, Nadia, Al Murshedi, Fathiya, Al Kindy, Adila, Alshaer, Ahmad, Rumayyan, Ahmed, Al Tala, Saeed, Kurdi, Wesam, Alsaman, Abdulaziz, Alasmari, Ali, Banu, Selina, Sultan, Tipu, Saleh, Mohammed M., Alkuraya, Hisham, Salih, Mustafa A., Aldhalaan, Hesham, Ben-Omran, Tawfeg, Al Musafri, Fatima, Ali, Rehab, Suleiman, Jehan, Tabarki, Brahim, El-Hattab, Ayman W., Bupp, Caleb, Alfadhel, Majid, Al Tassan, Nada, Monies, Dorota, Arold, Stefan T., Abouelhoda, Mohamed, Lashley, Tammaryn, Houlden, Henry, Faqeih, Eissa, Alkuraya, Fowzan S.
Published in Human genetics (01.11.2017)
Published in Human genetics (01.11.2017)
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Journal Article
Characterizing the morbid genome of ciliopathies
Shaheen, Ranad, Szymanska, Katarzyna, Basu, Basudha, Patel, Nisha, Ewida, Nour, Faqeih, Eissa, Al Hashem, Amal, Derar, Nada, Alsharif, Hadeel, Aldahmesh, Mohammed A, Alazami, Anas M, Hashem, Mais, Ibrahim, Niema, Abdulwahab, Firdous M, Sonbul, Rawda, Alkuraya, Hisham, Alnemer, Maha, Al Tala, Saeed, Al-Husain, Muneera, Morsy, Heba, Seidahmed, Mohammed Zain, Meriki, Neama, Al-Owain, Mohammed, AlShahwan, Saad, Tabarki, Brahim, Salih, Mustafa A, Faquih, Tariq, El-Kalioby, Mohamed, Ueffing, Marius, Boldt, Karsten, Logan, Clare V, Parry, David A, Al Tassan, Nada, Monies, Dorota, Megarbane, Andre, Abouelhoda, Mohamed, Halees, Anason, Johnson, Colin A, Alkuraya, Fowzan S
Published in Genome Biology (28.11.2016)
Published in Genome Biology (28.11.2016)
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Journal Article
The morbid genome of ciliopathies: an update
Shamseldin, Hanan E., Shaheen, Ranad, Ewida, Nour, Bubshait, Dalal K., Alkuraya, Hisham, Almardawi, Elham, Howaidi, Ali, Sabr, Yasser, Abdalla, Ebtesam M., Alfaifi, Abdullah Y., Alghamdi, Jameel Mohammed, Alsagheir, Afaf, Alfares, Ahmed, Morsy, Heba, Hussein, Maged H., Al–Muhaizea, Mohammad A., Shagrani, Mohammad, Al Sabban, Essam, Salih, Mustafa A., Meriki, Neama, Khan, Rubina, Almugbel, Maisoon, Qari, Alya, Tulba, Maha, Mahnashi, Mohammed, Alhazmi, Khalid, Alsalamah, Abrar K., Nowilaty, Sawsan R., Alhashem, Amal, Hashem, Mais, Abdulwahab, Firdous, Ibrahim, Niema, Alshidi, Tarfa, AlObeid, Eman, Alenazi, Mona M., Alzaidan, Hamad, Rahbeeni, Zuhair, Al–Owain, Mohammed, Sogaty, Sameera, Seidahmed, Mohammed Zain, Alkuraya, Fowzan S.
Published in Genetics in medicine (01.06.2020)
Published in Genetics in medicine (01.06.2020)
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Journal Article
In search of triallelism in Bardet-Biedl syndrome
ABU-SAFIEH, Leen, AL-ANAZI, Shamsa, AL-SALEM, Ahmad, ALRASHED, May, FAQEIH, Eissa, SOFTAH, Ameen, AL-HASHEM, Amal, WALI, Sami, RAHBEENI, Zuhair, ALSAYED, Moeen, KHAN, Arif O, AL-GAZALI, Lihadh, AL-ABDI, Lama, TASCHNER, Peter Em, AL-HAZZAA, Selwa, ALKURAYA, Fowzan S, HASHEM, Mais, ALKURAYA, Hisham, ALAMR, Mushari, SIRELKHATIM, Mugtaba O, AL-HASSNAN, Zuhair, ALKURAYA, Basim, MOHAMED, Jawahir Y
Published in European journal of human genetics : EJHG (01.04.2012)
Published in European journal of human genetics : EJHG (01.04.2012)
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Journal Article
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome
Aldahmesh, Mohammed A, Li, Yuanyuan, Alhashem, Amal, Anazi, Shams, Alkuraya, Hisham, Hashem, Mais, Awaji, Ali A, Sogaty, Sameera, Alkharashi, Abdullah, Alzahrani, Saeed, Al Hazzaa, Selwa A, Xiong, Yong, Kong, Shanshan, Sun, Zhaoxia, Alkuraya, Fowzan S
Published in Human molecular genetics (15.06.2014)
Published in Human molecular genetics (15.06.2014)
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Journal Article
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
AlAbdi, Lama, Shamseldin, Hanan E, Khouj, Ebtissal, Helaby, Rana, Aljamal, Bayan, Alqahtani, Mashael, Almulhim, Aisha, Hamid, Halima, Hashem, Mais O, Abdulwahab, Firdous, Abouyousef, Omar, Jaafar, Amal, Alshidi, Tarfa, Al-Owain, Mohammed, Alhashem, Amal, Al Tala, Saeed, Khan, Arif O, Mardawi, Elham, Alkuraya, Hisham, Faqeih, Eissa, Afqi, Manal, Alkhalifi, Salwa, Rahbeeni, Zuhair, Hagos, Samya T, Al-Ahmadi, Wijdan, Nadeef, Seba, Maddirevula, Sateesh, Khabar, Khalid S A, Putra, Alexander, Angelov, Angel, Park, Changsook, Reyes-Ramos, Ana M, Umer, Husen, Ullah, Ikram, Driguez, Patrick, Fukasawa, Yoshinori, Cheung, Ming Sin, Gallouzi, Imed Eddine, Alkuraya, Fowzan S
Published in Genome medicine (14.12.2023)
Published in Genome medicine (14.12.2023)
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Journal Article
Identification of ADAMTS18 as a gene mutated in Knobloch syndrome
Aldahmesh, Mohammed A, Khan, Arif O, Mohamed, Jawahir Y, Alkuraya, Hisham, Ahmed, Hala, Bobis, Steve, Al-Mesfer, Saleh, Alkuraya, Fowzan S
Published in Journal of medical genetics (01.09.2011)
Published in Journal of medical genetics (01.09.2011)
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Journal Article
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
Shamseldin, Hanan E, Alshammari, Muneera, Al-Sheddi, Tarfa, Salih, Mustafa A, Alkhalidi, Hisham, Kentab, Amal, Repetto, Gabriela M, Hashem, Mais, Alkuraya, Fowzan S
Published in Journal of medical genetics (01.04.2012)
Published in Journal of medical genetics (01.04.2012)
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Journal Article
Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation
Monies, Dorota, Maddirevula, Sateesh, Kurdi, Wesam, Alanazy, Mohammed H., Alkhalidi, Hisham, Al-Owain, Mohammed, Sulaiman, Raashda A., Faqeih, Eissa, Goljan, Ewa, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Abouelhoda, Mohamed, Shaheen, Ranad, Arold, Stefan T., Alkuraya, Fowzan S.
Published in Genetics in medicine (01.10.2017)
Published in Genetics in medicine (01.10.2017)
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