Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation in IKBKB by Zobaida Alsum, Mofareh S. AlZahrani, Hamoud Al-Mousa, Nouf Alkhamis, Abdulkareem A. Alsalemi, Hanan E. Shamseldin, Fowzan S. Alkuraya, Fowzan S. Alkuraya, Fowzan S. Alkuraya, Abdullah A. Alangari

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Population structure of indigenous inhabitants of Arabia. by Katsuhiko Mineta, Kosuke Goto, Takashi Gojobori, Fowzan S Alkuraya

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Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation. by Ahmed B Alsalem, Anason S Halees, Shamsa Anazi, Shomoukh Alshamekh, Fowzan S Alkuraya

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Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R gene by Maryam Alowaysi, Veronica Astro, Elisabetta Fiacco, Fatema Alzahrani, Fowzan S. Alkuraya, Antonio Adamo

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Genomic medicine in the Middle East by Ahmad N. Abou Tayoun, Khalid A. Fakhro, Alawi Alsheikh-Ali, Fowzan S. Alkuraya

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Congenital hepatic fibrosis in a child with Prader-Willi syndrome: a novel association by Ahmed Al Sarkhy, Saeed Hassan, Mona Alasmi, Asaad Muhammed Assiri, Fowzan S. Alkuraya

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Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern by Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki

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An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation by Ameur Ammari, Amal Alhashem, Hanen Abdelraouf, Fatma Alzahrani, Fowzan Sami Alkuraya, Brahim Tabarki

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Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing by Danya Salah Baz, Dareen Baz, Fawzah Alrwuili, Abdullah Aldowaish, Hanan E. Shamseldin, Ayman Elhomoudi, Fowzan S. Alkuraya

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Massive underrepresentation of Arabs in genomic studies of common disease by Romit Bhattacharya, NingNing Chen, Injeong Shim, Hiroyuki Kuwahara, Xin Gao, Fowzan S. Alkuraya, Akl C. Fahed

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Cone dystrophy associated with autoimmune polyglandular syndrome type 1 by Abdulrahman Badawi, Moustafa Magliyah, Omar Alabbasi, Lama AlAbdi, Fowzan S. Alkuraya, Patrik Schatz, Hani Basher ALBalawi, Marco Mura

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Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination by Arif O. Khan, Lama AlAbdi, Nisha Patel, Rana Helaby, Mais Hashem, Firdous Abdulwahab, Fahad B. AlBadr, Fowzan S. Alkuraya

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The natural history of infantile neuroaxonal dystrophy by Fadie D. Altuame, Gretchen Foskett, Paldeep S. Atwal, Sarah Endemann, Mark Midei, Peter Milner, Mustafa A. Salih, Muddathir Hamad, Mohammad Al-Muhaizea, Mais Hashem, Fowzan S. Alkuraya

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Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency by Brody Holohan, Wanil Kim, Tsung-Po Lai, Hirotoshi Hoshiyama, Ning Zhang, Anas M. Alazami, Woodring E. Wright, M. Stephen Meyn, Fowzan S. Alkuraya, Jerry W. Shay

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Lethal variants in humans: lessons learned from a large molecular autopsy cohort by Hanan E. Shamseldin, Lama AlAbdi, Sateesh Maddirevula, Hessa S. Alsaif, Fatema Alzahrani, Nour Ewida, Mais Hashem, Firdous Abdulwahab, Omar Abuyousef, Hiroyuki Kuwahara, Xin Gao, Molecular Autopsy Consortium, Fowzan S. Alkuraya

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Clinical utility of polygenic scores for cardiometabolic disease in Arabs by Injeong Shim, Hiroyuki Kuwahara, NingNing Chen, Mais O. Hashem, Lama AlAbdi, Mohamed Abouelhoda, Hong-Hee Won, Pradeep Natarajan, Patrick T. Ellinor, Amit V. Khera, Xin Gao, Fowzan S. Alkuraya, Akl C. Fahed

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Natural history of non-lethal Raine syndrome during childhood by Chiara Mameli, Giulia Zichichi, Nasim Mahmood, Siham Chafai Elalaoui, Adnan Mirza, Poonam Dharmaraj, Marco Burrone, Elisa Cattaneo, Jayesh Sheth, Ajit Gandhi, Gurpreet Singh Kochar, Fowzan Sami Alkuraya, Madhulika Kabra, Giuseppe Mercurio, Gianvincenzo Zuccotti

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Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families by Lama AlAbdi, Sateesh Maddirevula, Hanan E. Shamseldin, Ebtissal Khouj, Rana Helaby, Halima Hamid, Aisha Almulhim, Mais O. Hashem, Firdous Abdulwahab, Omar Abouyousef, Mashael Alqahtani, Norah Altuwaijri, Amal Jaafar, Tarfa Alshidi, Fatema Alzahrani, Mendeliome Group, Fowzan S. Alkuraya

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The clinical utility of rapid exome sequencing in a consanguineous population by Dorota Monies, Ewa Goljan, Rapid Exome Consortium, Mirna Assoum, Muna Albreacan, Faisal Binhumaid, Shazia Subhani, Abdulmlik Boureggah, Mais Hashem, Firdous Abdulwahab, Omar Abuyousef, Mohamad H. Temsah, Fahad Alsohime, James Kelaher, Mohamed Abouelhoda, Brian F. Meyer, Fowzan S. Alkuraya

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A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation by Nisha Patel, Arif O. Khan, Maher Al-Saif, Walid N. Moghrabi, Balsam M. AlMaarik, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Tarfa Alshidi, Eman Alobeid, Rana A. Alomar, Saad Al-Harbi, Mohamed Abouelhoda, Khalid S. A. Khabar, Fowzan S. Alkuraya

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