Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases by Shruti Sinha, Fatma Rabea, Sathishkumar Ramaswamy, Ikram Chekroun, Maha El Naofal, Ruchi Jain, Roudha Alfalasi, Nour Halabi, Sawsan Yaslam, Massomeh Sheikh Hassani, Shruti Shenbagam, Alan Taylor, Mohammed Uddin, Mohamed A. Almarri, Stefan Du Plessis, Alawi Alsheikh-Ali, Ahmad Abou Tayoun

Get full text

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs by Ruchi Jain, Sami Bizzari, Sathishkumar Ramaswamy, Khaleem F. Hasham, Shruti Sinha, Ikram Chekroun, Fatma Rabea, Eman Abuijlan, Maha El Naofal, Massomeh Sheikh Hassani, Shruti Shenbagam, Alan Taylor, Mohammed Uddin, Mohamed Almarri, Omer Alkhnbashi, Hamda Khansaheb, Hanan Al Suwaidi, Stefan S. Du Plessis, Stephany El-Hayek, Alawi Alsheikh-Ali, Ahmad Abou Tayoun

Get full text

Genomic insights into Rett syndrome-like features in Bangladeshi participants by Hosneara Akter, Muhammad Mizanur Rahman, Rabeya Akter Mim, Atikur Rahaman, Md., Tamannyat Binte Eshaque, Syed Akib Hossain, Athoi Ganguly, Farjana Binta Omar, Masuma Afrin Taniya, Nahid Hasan, Md., Amirul Islam, Bassam Jamalalail, Nasna Nassir, Binte Zehra, Shaoli Sarker, K.M. Furkan Uddin, A.H.M. Nurun Nabi, Marc Woodbury-Smith, Mohammed Uddin

Get full text

A draft UAE-based Arab pangenome reference by Nasna Nassir, Mohamed A. Almarri, Muhammad Kumail, Nesrin Mohamed, Bipin Balan, Shehzad Hanif, Maryam AlObathani, Bassam Jamalalail, Hanan Elsokary, Dasuki Kondaramage, Suhana Shiyas, Noor Kosaji, Dharana Satsangi, Madiha Hamdi Saif Abdelmotagali, Ahmad Abou Tayoun, Olfat Zuhair Salem Ahmed, Douaa Fathi Youssef, Hanan Al Suwaidi, Ammar Albanna, Stefan S Du Plessis, Hamda Hassan Khansaheb, Alawi Alsheikh-Ali, Mohammed Uddin

Get full text