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

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Cephalosporin-induced nonconvulsive status epilepticus in a uremic child von Chedrawi, Aziza K, Gharaybeh, Salam I, Al-Ghwery, Saed A, Al-Mohaimeed, Sulaiman A, Alshahwan, Saad A

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Genomic and phenotypic delineation of congenital microcephaly von 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.

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Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase von Massa, Valeria, Fernandez-Vizarra, Erika, Alshahwan, Saad, Bakhsh, Eman, Goffrini, Paola, Ferrero, Ileana, Mereghetti, Paolo, D'Adamo, Pio, Gasparini, Paolo, Zeviani, Massimo

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Autozygome and high throughput confirmation of disease genes candidacy von 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.

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Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone von Tabarki, Brahim, Alfadhel, Majid, AlShahwan, Saad, Hundallah, Khaled, AlShafi, Shatha, AlHashem, Amel

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

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Severe CNS involvement in WWOX mutations: Description of five new cases von Tabarki, Brahim, AlHashem, Amal, AlShahwan, Saad, Alkuraya, Fowzan S., Gedela, Satyanarayana, Zuccoli, Giulio

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Bi-allelic variants in HCRT cause autosomal recessive narcolepsy von Hakami, Wejdan, Thabet, Farah, Alhashem, Amal, Alghamdi, Abdulaziz, Alshahwan, Saad, Alkuraya, Fowzan S., Tabarki, Brahim

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Recessive AFG3L2 mutation causes progressive microcephaly, early onset seizures, spasticity, and basal ganglia involvement von Eskandrani, Alaa, MD, AlHashem, Amal, MD, Ali, El-Sayed, MD, AlShahwan, Saad, MD, Tlili, Kalthoum, MD, Hundallah, Khaled, MD, Tabarki, Brahim, MD

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Characterizing the morbid genome of ciliopathies von 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

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Novel Homozygous Mutation of the AIMP1 Gene: A Milder Neuroimaging Phenotype With Preservation of the Deep White Matter von BoAli, Ahmed, Tlili-Graiess, Kalthoum, AlHashem, Amal, AlShahwan, Saad, Zuccoli, Giulio, Tabarki, Brahim

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Plasmacytoid Variant Urothelial Cell Carcinoma: A Case of a Histological Variant of Urinary Bladder Cancer With Aggressive Behavior von Alshahwan, Mosaad I, Bin Dukhi, Musaad M, Alotaibi, Sultan N, Aldarrab, Rakan, Alhefdhi, Naif A, Al Oudah, Nourah, Abumelha, Saad

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Sepiapterin reductase deficiency: Report of 5 new cases von AlSubhi, Sarah, AlShahwan, Saad, AlMuhaizae, Mohamed, AlZaidan, Hamed, Tabarki, Brahim

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Congenital disorders of glycosylation: The Saudi experience von Alsubhi, Sarah, Alhashem, Amal, Faqeih, Eissa, Alfadhel, Majid, Alfaifi, Abdullah, Altuwaijri, Waleed, Alsahli, Saud, Aldhalaan, Hesham, Alkuraya, Fowzan S., Hundallah, Khalid, Mahmoud, Adel, Alasmari, Ali, Mutairi, Fuad Al, Abduraouf, Hanem, AlRasheed, Layan, Alshahwan, Saad, Tabarki, Brahim

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Acute psychosis in children: do not miss immune-mediated causes von AlHakeem, Afnan S, Mekki, Mohamed S, AlShahwan, Saad M, Tabarki, Brahim M

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Further Delineation of the ALG9-CDG Phenotype von AlSubhi, Sarah, AlHashem, Amal, AlAzami, Anas, Tlili, Kalthoum, AlShahwan, Saad, Lefeber, Dirk, Alkuraya, Fowzan S., Tabarki, Brahim

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Additional file 1: Figure S1. of Characterizing the morbid genome of ciliopathies von Ranad Shaheen, Szymanska, Katarzyna, Basudha Basu, Patel, Nisha, Ewida, Nour, Faqeih, Eissa, Hashem, Amal Al, Derar, Nada, Hadeel Alsharif, Aldahmesh, Mohammed, Alazami, Anas, Hashem, Mais, Niema Ibrahim, Firdous Abdulwahab, Rawda Sonbul, Alkuraya, Hisham, Alnemer, Maha, Tala, Saeed Al, Al-Husain, Muneera, Morsy, Heba, Seidahmed, Mohammed, Neama Meriki, Al-Owain, Mohammed, AlShahwan, Saad, Tabarki, Brahim, Salih, Mustafa, Faquih, Tariq, El-Kalioby, Mohamed, Ueffing, Marius, Boldt, Karsten, Logan, Clare, Parry, David, Tassan, Nada Al, Monies, Dorota, Megarbane, Andre, Abouelhoda, Mohamed, Anason Halees, Johnson, Colin, Fowzan Alkuraya

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Plasmacytoid Variant Urothelial Cell Carcinoma: A Case of a Histological Variant of Urinary Bladder Cancer With Aggressive Behavior von Alshahwan, Mosaad I, Bin Dukhi, Musaad M, Alotaibi, Sultan N, Aldarrab, Rakan, Alhefdhi, Naif A, Al Oudah, Nourah, Abumelha, Saad

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Schwartz-Jampel Syndrome: Evidence of Central Nervous System Dysfunction von Singh, Balbir, Biary, Nabil, Jamil, Anis A., Ali Al-Shahwan, Saad

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