A null mutation in CABP4 causes Leber’s congenital amaurosis-like phenotype

por Aldahmesh, Mohammed A., Al-Owain, Mohammed, Alqahtani, Faisal, Hazzaa, Salwa, Alkuraya, Fowzan S.
Publicado 2010

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

por Al-Owain, Mohammed, Mohamed, Sarar, Kaya, Namik, Zagal, Ahmad, Matthijs, Gert, Jaeken, Jaak
Publicado 2010

Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss

por Ramzan, Khushnooda, Bin-Abbas, Bassam, Al-Jomaa, Lolwa, Allam, Rabab, Al-Owain, Mohammed, Imtiaz, Faiqa
Publicado 2017

Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss

por Ramzan, Khushnooda, Al-Numair, Nouf S., Al-Ageel, Sarah, Elbaik, Lina, Sakati, Nadia, Al-Hazzaa, Selwa A. F., Al-Owain, Mohammed, Imtiaz, Faiqa
Publicado 2020

Genetic basis of pulmonary arterial hypertension: a prospective study from a highly inbred population

por Aldalaan, Abdullah M., Ramzan, Khushnooda, Saleemi, Sarfraz A., Weheba, Ihab, Alquait, Laila, Abdelsayed, Abeer, Alzubi, Fatima, Zaytoun, Hamdeia, Alharbi, Nadeen, Al-Owain, Mohammed, Imtiaz, Faiqa
Publicado 2021

USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis

por Imtiaz, Faiqa, Taibah, Khalid, Bin-Khamis, Ghada, Kennedy, Shelley, Hemidan, Amal, Al-Qahtani, Faisal, Tabbara, Khalid, Mubarak, Bashayer Al, Ramzan, Khushnooda, Meyer, Brian F., Al-Owain, Mohammed
Publicado 2012

Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds

por Faiyaz-Ul-Haque, Muhammad, Al-Sayed, Moeenaldeen D., Faqeih, Eissa, Jamil, Masood, Saeed, Anjum, Amoudi, Mohamed Saleh, Kaya, Namik, Abalkhail, Halah, Al-Abdullatif, Ahmed, Rashed, Mohamed, Al-Owain, Mohammed, Peltekova, Iskra, Zaidi, Syed HE
Publicado 2014

Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia

por Al-Hamed, Mohamed H., Imtiaz, Faiqa, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Alamoudi, Mohamed S., Faqeih, Eissa, Alfadhel, Majid, Al-Asmari, Ali, Saleh, M.M., Almutairi, Fuad, Moghrabi, Nabil, AlSayed, Moeenaldeen
Publicado 2019

A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population

por Imtiaz, Faiqa, Taibah, Khalid, Ramzan, Khushnooda, Bin-Khamis, Ghada, Kennedy, Shelley, Al-Mubarak, Bashayer, Trabzuni, Daniah, Allam, Rabab, Al-Mostafa, Abeer, Sogaty, Sameera, Al-Shaikh, Abdulmoneem H, Bamukhayyar, Saeed S, Meyer, Brian F, Al-Owain, Mohammed
Publicado 2011

Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy

por Al-Owain, Mohammed, Kaya, Namik, Al-Zaidan, Hamad, Bin Hussain, Ibrahim, Al-Manea, Hadeel, Al-Hindi, Hindi, Kennedy, Shelley, Iqbal, M. Anwar, Al-Mojalli, Hamad, Al-Bakheet, Albandary, Puel, Anne, Casanova, Jean-Laurent, Al-Muhsen, Saleh
Publicado 2010

COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience

por Altassan, Ruqaiah, Sulaiman, Raashda A., Alfalah, Abdullah, Alwagiat, Waad, Megdad, Eman, Alqasabi, Dana, Handoom, Bedour, Almesned, Munirah, Al-Amri, Hassan, Alhassnan, Zuhair, Alsayed, Moeen-aldeen, Alzaidan, Hamad, Rahbeeni, Zuhair, Derar, Nada, Al-Owain, Mohammed, Albanyan, Esam
Publicado 2022

New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

por Salih, Mustafa A., Mundwiller, Emeline, Khan, Arif O., AlDrees, Abdulmajeed, Elmalik, Salah A., Hassan, Hamdy H., Al-Owain, Mohammed, Alkhalidi, Hisham M. S., Katona, Istvan, Kabiraj, Mohammad M., Chrast, Roman, Kentab, Amal Y., Alzaidan, Hamad, Rodenburg, Richard J., Bosley, Thomas M., Weis, Joachim, Koenig, Michel, Stevanin, Giovanni, Azzedine, Hamid
Publicado 2013

Correction: New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

por Salih, Mustafa A., Mundwiller, Emeline, Khan, Arif O., AlDrees, Abdulmajeed, Elmalik, Salah A., Hassan, Hamdy H., Al-Owain, Mohammed, Alkhalidi, Hisham M. S., Katona, Istvan, Kabiraj, Mohammad M., Chrast, Roman, Kentab, Amal Y., Alzaidan, Hamad, Rodenburg, Richard J., Bosley, Thomas M., Weis, Joachim, Koenig, Michel, Stevanin, Giovanni, Azzedine, Hamid
Publicado 2013

A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families

por Aldosary, Mazhor, Alsagob, Maysoon, AlQudairy, Hanan, González-Álvarez, Ana C., Arold, Stefan T., Dababo, Mohammad Anas, Alharbi, Omar A., Almass, Rawan, AlBakheet, AlBandary, AlSarar, Dalia, Qari, Alya, Al-Ansari, Mysoon M., Oláhová, Monika, Al-Shahrani, Saif A., AlSayed, Moeenaldeen, Colak, Dilek, Taylor, Robert W., AlOwain, Mohammed, Kaya, Namik
Publicado 2022

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

por 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.
Publicado 2013

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

por Puel, Anne, Döffinger, Rainer, Natividad, Angels, Chrabieh, Maya, Barcenas-Morales, Gabriela, Picard, Capucine, Cobat, Aurélie, Ouachée-Chardin, Marie, Toulon, Antoine, Bustamante, Jacinta, Al-Muhsen, Saleh, Al-Owain, Mohammed, Arkwright, Peter D., Costigan, Colm, McConnell, Vivienne, Cant, Andrew J., Abinun, Mario, Polak, Michel, Bougnères, Pierre-François, Kumararatne, Dinakantha, Marodi, László, Nahum, Amit, Roifman, Chaim, Blanche, Stéphane, Fischer, Alain, Bodemer, Christine, Abel, Laurent, Lilic, Desa, Casanova, Jean-Laurent
Publicado 2010

Genetic association analysis of 77,539 genomes reveals rare disease etiologies

por Greene, Daniel, Pirri, Daniela, Frudd, Karen, Sackey, Ege, Al-Owain, Mohammed, Giese, Arnaud P. J., Ramzan, Khushnooda, Riaz, Sehar, Yamanaka, Itaru, Boeckx, Nele, Thys, Chantal, Gelb, Bruce D., Brennan, Paul, Hartill, Verity, Harvengt, Julie, Kosho, Tomoki, Mansour, Sahar, Masuno, Mitsuo, Ohata, Takako, Stewart, Helen, Taibah, Khalid, Turner, Claire L. S., Imtiaz, Faiqa, Riazuddin, Saima, Morisaki, Takayuki, Ostergaard, Pia, Loeys, Bart L., Morisaki, Hiroko, Ahmed, Zubair M., Birdsey, Graeme M., Freson, Kathleen, Mumford, Andrew, Turro, Ernest
Publicado 2023

An atypical pulmonary fibrosis is associated with co-inheritance of mutations in the calcium binding protein genes S100A3 and S100A13

por Al-Mutairy, Eid A., Imtiaz, Faiga Ahmad, Khalid, Mohammed, Al Qattan, Somaya, Saleh, Soad, Mahmoud, Linah Mahmood, Al-Saif, Maher Mohammed, Al-Haj, Latifa, Al-Enazi, Azizah, AlJebreen, Abdullah M., Mohammed, Shamayel Faheem, Mobeireek, Abdullah Fahad, Alkattan, Khalid, Chisti, Muzamil Amin, Luzina, Irina G., Al-Owain, Mohammed, Weheba, Ihab, Abdelsayed, Abeer Mohamed, Ramzan, Khushnooda, Janssen, Luke J., Conca, Walter, Alaiya, Ayodele, Collison, Kate S., Meyer, Brian F., Atamas, Sergei P., Khabar, Khalid S., Hasday, Jeffrey D., Al-Mohanna, Futwan
Publicado 2019

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

por Cullup, Thomas, Kho, Ay L., Dionisi-Vici, Carlo, Brandmeier, Birgit, Smith, Frances, Urry, Zoe, Simpson, Michael A., Yau, Shu, Bertini, Enrico, McClelland, Verity, Al-Owain, Mohammed, Koelker, Stefan, Koerner, Christian, Hoffmann, Georg F., Wijburg, Frits A., Hoedt, Amber E. ten, Rogers, Curtis, Manchester, David, Miyata, Rie, Hayashi, Masaharu, Said, Elizabeth, Soler, Doriette, Kroisel, Peter M., Windpassinger, Christian, Filloux, Francis M., Al-Kaabi, Salwa, Hertecant, Jozef, Del Campo, Miguel, Buk, Stefan, Bodi, Istvan, Goebel, Hans-Hilmar, Sewry, Caroline A., Abbs, Stephen, Mohammed, Shehla, Josifova, Dragana, Gautel, Mathias, Jungbluth, Heinz
Publicado 2012

Characterizing the morbid genome of ciliopathies

por 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.
Publicado 2016