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

Author:

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.

Publisher

Elsevier BV

Subject

General Biochemistry, Genetics and Molecular Biology

Reference40 articles.

1. SET binding factor 1 (SBF1) mutation causes Charcot-Marie-tooth disease type 4B3;Alazami;Neurology,2014

2. Homozygosity mapping: one more tool in the clinical geneticist’s toolbox;Alkuraya;Genet. Med.,2010

3. Discovery of rare homozygous mutations from studies of consanguineous pedigrees;Alkuraya;Curr. Protoc. Hum. Genet.,2012

4. Deficiency in ubiquitin ligase TRIM2 causes accumulation of neurofilament light chain and neurodegeneration;Balastik;Proc. Natl. Acad. Sci. USA,2008

5. Spindly/CCDC99 is required for efficient chromosome congression and mitotic checkpoint regulation;Barisic;Mol. Biol. Cell,2010

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