Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes

por Marc Woodbury-Smith, Rob Nicolson, Mehdi Zarrei, Ryan K. C. Yuen, Susan Walker, Jennifer Howe, Mohammed Uddin, Ny Hoang, Janet A. Buchanan, Christina Chrysler, Ann Thompson, Peter Szatmari, Stephen W. Scherer
Publicado 2017

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells

por Nasna Nassir, Asma Bankapur, Bisan Samara, Abdulrahman Ali, Awab Ahmed, Ibrahim M. Inuwa, Mehdi Zarrei, Seyed Ali Safizadeh Shabestari, Ammar AlBanna, Jennifer L. Howe, Bakhrom K. Berdiev, Stephen W. Scherer, Marc Woodbury-Smith, Mohammed Uddin
Publicado 2021

Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh

por Hosneara Akter, Mohammad Shahnoor Hossain, Nushrat Jahan Dity, Md. Atikur Rahaman, K. M. Furkan Uddin, Nasna Nassir, Ghausia Begum, Reem Abdel Hameid, Muhammad Sougatul Islam, Tahrima Arman Tusty, Mohammad Basiruzzaman, Shaoli Sarkar, Mazharul Islam, Sharmin Jahan, Elaine T. Lim, Marc Woodbury-Smith, Dimitri James Stavropoulos, Darren D. O’Rielly, Bakhrom K. Berdeiv, A. H. M. Nurun Nabi, Mohammed Nazmul Ahsan, Stephen W. Scherer, Mohammed Uddin
Publicado 2021