Article
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2025
Akter Hosneara, Rahaman Md Atikur, Eshaque Tamannyat Binte, Mohamed Nesrin, Islam Amirul, Morshed Mehzabin, Shahin Zaha, Muhaimin Al, Foyzullah Arif Md, Mim Rabeya Akter, Omar Farjana Binta, Hasan Md Nahid, Satsangi Dharana, Ahmed Nahid, Al Saba Abdullah, Jahan Nargis, Hossen Md Arif, Mondol Md Ashadujjaman, Sakib Ahammad Sharif, Kabir Rezwana, Jahan Chowdhury Mohammod Shah, Shams Nusrat, Afroz Shireen, Kanta Shayla Imam, Bhuiyan Sarwar Jahan, Biswas Rabi, Hanif Shehzad, Tambi Richa, Nassir Nasna, Rahman Muhammad Mizanur, Duan Jinjie, D Børglum Anders, Amin Robed, Basiruzzaman Mohammed, Kamruzzaman Md, Sarker Shaoli, Woodbury-Smith Marc, Uddin K M Furkan, Nabi A H M Nurun, Uddin Mohammed
Abstract excerpt
PURPOSE: The genetic underpinning of neurodevelopmental disorders (NDDs) in diverse ethnic populations, especially those with high rates of consanguinity, remains largely unexplored. Here, we aim to elucidate genomic insight from 576 well-phenotyped and highly consanguineous (16%) NDD cohort. METHODS: We used chromosomal microarray (CMA; N:247), exome sequencing (ES; N:127), combined CMA and ES (N:202), and...
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