Autozygome and high throughput confirmation of disease genes candidacy

Authors: Maddirevula, Sateesh, Alzahrani, Fatema, Al-Owain, Mohammed, Al Muhaizea, Mohammad A., Kayyali, Husam R., AlHashem, Amal, Rahbeeni, Zuhair, Al-Otaibi, Maha, Alzaidan, Hamad I., Balobaid, Ameera, El Khashab, Heba Y., Bubshait, Dalal K., Faden, Maha, Yamani, Suad Al, Dabbagh, Omar, Al-Mureikhi, Mariam, Jasser, Abdulla Al, Alsaif, Hessa S., Alluhaydan, Iram, Seidahmed, Mohammed Zain, Alabbasi, Bashair Hamza, Almogarri, Ibrahim, Kurdi, Wesam, Akleh, Hana, Qari, Alya, Al Tala, Saeed M., Alhomaidi, Suzan, Kentab, Amal Y., Salih, Mustafa A., Chedrawi, Aziza, Alameer, Seham, Tabarki, Brahim, Shamseldin, Hanan E., Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous, Samira, Menasria, Goljan, Ewa, Abouelhoda, Mohamed, Meyer, Brian F., Hashem, Mais, Shaheen, Ranad, AlShahwan, Saad, Alfadhel, Majid, Ben-Omran, Tawfeg, Al-Qattan, Mohammad M., Monies, Dorota, Alkuraya, Fowzan S. ^*

Source: In Genetics in Medicine March 2019 21(3):736-742

Genomic and phenotypic delineation of congenital microcephaly

Authors: Shaheen, Ranad, Maddirevula, Sateesh, Ewida, Nour, Alsahli, Saud, Abdel-Salam, Ghada M.H., Zaki, Maha S., Tala, Saeed Al, Alhashem, Amal, Softah, Ameen, Al-Owain, Mohammed, Alazami, Anas M., Abadel, Basma, Patel, Nisha, Al-Sheddi, Tarfa, Alomar, Rana, Alobeid, Eman, Ibrahim, Niema, Hashem, Mais, Abdulwahab, Firdous, Hamad, Muddathir, Tabarki, Brahim, Alwadei, Ali H., Alhazzani, Fahad, Bashiri, Fahad A., Kentab, Amal, Şahintürk, Serdar, Sherr, Elliott, Fregeau, Brieana, Sogati, Samira, Alshahwan, Saad Ali M., Alkhalifi, Salwa, Alhumaidi, Zainab, Temtamy, Samia, Aglan, Mona, Otaify, Ghada, Girisha, Katta M., Tulbah, Maha, Seidahmed, Mohammed Zain, Salih, Mustafa A., Abouelhoda, Mohamed, Momin, Afaque A., Saffar, Muna Al, Partlow, Jennifer N., Arold, Stefan T., Faqeih, Eissa, Walsh, Christopher, Alkuraya, Fowzan S. ^*

Source: In Genetics in Medicine March 2019 21(3):545-552

Novel Homozygous Mutation of the AIMP1 Gene: A Milder Neuroimaging Phenotype With Preservation of the Deep White Matter

Authors: BoAli, Ahmed, Tlili-Graiess, Kalthoum, AlHashem, Amal, AlShahwan, Saad, Zuccoli, Giulio, Tabarki, Brahim

Source: Pediatric neurology. 91:57-61

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100074904136.0x000001&indx=1&recIds=ETOCvdc_100074904136.0x000001

A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield

Authors: Alfares, Ahmed, Alfadhel, Majid, Wani, Tariq, Alsahli, Saud, Alluhaydan, Iram, Al Mutairi, Fuad, Alothaim, Ali, Albalwi, Mohammed, Al subaie, Lamia, Alturki, Saeed, Al-Twaijri, Waleed, Alrifai, Muhammad, Al-Rumayya, Ahmed, Alameer, Seham, Faqeeh, Eissa, Alasmari, Ali, Alsamman, Abdulaziz, Tashkandia, Soha, Alghamdi, Abdulaziz, Alhashem, Amal, Tabarki, Brahim, AlShahwan, Saad, Hundallah, Khalid, Wali, Sami, Al-Hebbi, Homoud, Babiker, Amir, Mohamed, Sarar, Eyaid, Wafaa, Zada, Abdul Ali Peer

Source: In Molecular Genetics and Metabolism June 2017 121(2):91-95

Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement

Authors: Eskandrani, Alaa, AlHashem, Amal, Ali, El-Sayed, AlShahwan, Saad, Tlili, Kalthoum, Hundallah, Khaled, Tabarki, Brahim

Source: In Pediatric Neurology June 2017 71:24-28

Bi-allelic variants in HCRT cause autosomal recessive narcolepsy.

Authors: Hakami, Wejdan, Thabet, Farah, Alhashem, Amal, Alghamdi, Abdulaziz, Alshahwan, Saad, Alkuraya, Fowzan S., Tabarki, Brahim

Source: Neurogenetics; Apr2024, Vol. 25 Issue 2, p79-83, 5p

Subject Terms: CATAPLEXY, NARCOLEPSY, GENETIC testing, GENETIC disorders

Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone

Authors: Tabarki, Brahim, Alfadhel, Majid, AlShahwan, Saad, Hundallah, Khaled, AlShafi, Shatha, AlHashem, Amel

Source: In European Journal of Paediatric Neurology September 2015 19(5):547-552

Sepiapterin reductase deficiency: Report of 5 new cases

Authors: AlSubhi, Sarah, AlShahwan, Saad, AlMuhaizae, Mohamed, AlZaidan, Hamed, Tabarki, Brahim

Source: European journal of paediatric neurology. 21(3):583-586

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100043553648.0x000001&indx=1&recIds=ETOCvdc_100043553648.0x000001

Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase

Authors: Massa, Valeria, Fernandez-Vizarra, Erika, Alshahwan, Saad, Bakhsh, Eman, Goffrini, Paola, Ferrero, Ileana, Mereghetti, Paolo, D'Adamo, Pio, Gasparini, Paolo, Zeviani, Massimo

Source: In The American Journal of Human Genetics 2008 82(6):1281-1289

Problem-solving in clinical practice: breathing difficulty and muscle weakness following allogeneic haematopoietic stem cell transplantation.

Authors: Albulushi, Bashaer, Thabet, Farah, Alshahwan, Saad, Elborai, Yasser, Alkhayat, Nawaf, Alshahrani, Mohamed, Tabarki, Brahim

Source: Archives of Disease in Childhood -- Education & Practice Edition; Apr2021, Vol. 106 Issue 2, p125-128, 4p

Subject Terms: STEM cell transplantation, MUSCLE weakness, DYSPNEA, GRAFT versus host disease, PROBLEM solving

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

Authors: Alazami, Anas M., Patel, Nisha, Shamseldin, Hanan E., Anazi, Shamsa, Al-Dosari, Mohammed S., Alzahrani, Fatema, Hijazi, Hadia, Alshammari, Muneera, Aldahmesh, Mohammed A., Salih, Mustafa A., Faqeih, Eissa, Alhashem, Amal, Bashiri, Fahad A., Al-Owain, Mohammed, Kentab, Amal Y., Sogaty, Sameera, Al Tala, Saeed, Temsah, Mohamad-Hani, Tulbah, Maha, Aljelaify, Rasha F., Alshahwan, Saad A., Seidahmed, Mohammed Zain, Alhadid, Adnan A., Aldhalaan, Hesham, AlQallaf, Fatema, Kurdi, Wesam, Alfadhel, Majid, Babay, Zainab, Alsogheer, Mohammad, Kaya, Namik, Al-Hassnan, Zuhair N., Abdel-Salam, Ghada M.H., Al-Sannaa, Nouriya, Al Mutairi, Fuad, El Khashab, Heba Y., Bohlega, Saeed, Jia, Xiaofei, Nguyen, Henry C., Hammami, Rakad, Adly, Nouran, Mohamed, Jawahir Y., Abdulwahab, Firdous, Ibrahim, Niema, Naim, Ewa A., Al-Younes, Banan, Meyer, Brian F., Hashem, Mais, Shaheen, Ranad, Xiong, Yong, Abouelhoda, Mohamed, Aldeeri, Abdulrahman A., Monies, Dorota M., Alkuraya, Fowzan S.

Source: In Cell Reports 13 January 2015 10(2):148-161

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Further Delineation of the ALG9-CDG Phenotype.

Authors: AlSubhi, Sarah, AlHashem, Amal, AlAzami, Anas, Tlili, Kalthoum, AlShahwan, Saad, Lefeber, Dirk, Alkuraya, Fowzan S., Tabarki, Brahim

Source: JIMD Reports, Volume 27; 2016, p107-112, 6p

Cephalosporin-induced nonconvulsive status epilepticus in a uremic child

Authors: Chedrawi, Aziza K, Gharaybeh, Salam I, Al-Ghwery, Saed A, Al-Mohaimeed, Sulaiman A, Alshahwan, Saad A

Source: In Pediatric Neurology 2004 30(2):135-139

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