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
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
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
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
Essential Role of ELOVL4 Protein in Very Long Chain Fatty Acid Synthesis and Retinal Function
Harkewicz, Richard, Du, Hongjun, Tong, Zongzhong, Alkuraya, Hisham, Bedell, Matthew, Sun, Woong, Wang, Xiaolei, Hsu, Yuan-Hao, Esteve-Rudd, Julian, Hughes, Guy, Su, Zhiguang, Zhang, Ming, Lopes, Vanda S., Molday, Robert S., Williams, David S., Dennis, Edward A., Zhang, Kang
Published in The Journal of biological chemistry (30.03.2012)
Published in The Journal of biological chemistry (30.03.2012)
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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
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
Mutation of IGFBP7 Causes Upregulation of BRAF/MEK/ERK Pathway and Familial Retinal Arterial Macroaneurysms
Abu-Safieh, Leen, Abboud, Emad B., Alkuraya, Hisham, Shamseldin, Hanan, Al-Enzi, Shamsa, Al-Abdi, Lama, Hashem, Mais, Colak, Dilek, Jarallah, Abdullah, Ahmad, Hala, Bobis, Steve, Nemer, Georges, Bitar, Fadi, Alkuraya, Fowzan S.
Published in American journal of human genetics (12.08.2011)
Published in American journal of human genetics (12.08.2011)
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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
Congenital glaucoma and CYP1B1: an old story revisited
Alsaif, Hessa S., Khan, Arif O., Patel, Nisha, Alkuraya, Hisham, Hashem, Mais, Abdulwahab, Firdous, Ibrahim, Niema, Aldahmesh, Mohammed A., Alkuraya, Fowzan S.
Published in Human genetics (01.09.2019)
Published in Human genetics (01.09.2019)
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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
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies
Patel, Nisha, Aldahmesh, Mohammed A., Alkuraya, Hisham, Anazi, Shamsa, Alsharif, Hadeel, Khan, Arif O., Sunker, Asma, Al-mohsen, Saleh, Abboud, Emad B., Nowilaty, Sawsan R., Alowain, Mohammed, Al-Zaidan, Hamad, Al-Saud, Bandar, Alasmari, Ali, Abdel-Salam, Ghada M.H., Abouelhoda, Mohamed, Abdulwahab, Firdous M., Ibrahim, Niema, Naim, Ewa, Al-Younes, Banan, E. AlMostafa, Abeer, AlIssa, Abdulelah, Hashem, Mais, Buzovetsky, Olga, Xiong, Yong, Monies, Dorota, Altassan, Nada, Shaheen, Ranad, Al-Hazzaa, Selwa A.F., Alkuraya, Fowzan S.
Published in Genetics in medicine (01.06.2016)
Published in Genetics in medicine (01.06.2016)
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