Article
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Cell reports - 13 Jan 2015
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
Abstract excerpt
Our knowledge of disease genes in neurological disorders is incomplete. With the aim of closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous families in whom known disease genes had been excluded by autozygosity mapping and candidate gene analysis. This prescreening step led to the identification of 69 recessive genes not previously associated with disease, of which 33 are here...
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