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

by 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
Published 2017-05-01

A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees

by Marc Woodbury-Smith, Andrew D. Paterson, Irene O’Connor, Mehdi Zarrei, Ryan K. C. Yuen, Jennifer L Howe, Ann Thompson, Morgan Parlier, Bridget Fernandez, Joseph Piven, Stephen W. Scherer, Veronica Vieland, Peter Szatmari
Published 2018-06-01

Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

by Marc Woodbury-Smith, Eric Deneault, Ryan K. C. Yuen, Susan Walker, Mehdi Zarrei, Giovanna Pellecchia, Jennifer L. Howe, Ny Hoang, Mohammed Uddin, Christian R. Marshall, Christina Chrysler, Ann Thompson, Peter Szatmari, Stephen W. Scherer
Published 2017-11-01

Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes

by Muhammad M. Rahman, KM Furkan Uddin, Nesreen K. Al Jezawi, Noushad Karuvantevida, Hosneara Akter, Nushrat J. Dity, Md. Ashiquir Rahaman, Maksuda Begum, Md. Atikur Rahaman, Md. Abdul Baqui, Zeena Salwa, Serajul Islam, Marc Woodbury‐Smith, Mohammed Basiruzzaman, Mohammed Uddin
Published 2019-10-01

Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort

by Hosneara Akter, Nasima Sultana, Nazrana Martuza, Aaysha Siddiqua, Nushrat Jahan Dity, Md. Atikur Rahaman, Bisan Samara, Ahmed Sayeed, Mohammed Basiruzzaman, Mohammad Mizanur Rahman, Md. Rashidul Hoq, Md. Robed Amin, Md. Abdul Baqui, Marc Woodbury-Smith, K. M. Furkan Uddin, Syed S. Islam, Rayhana Awwal, Bakhrom K. Berdiev, Mohammed Uddin
Published 2019-09-01

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

by 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
Published 2021-02-01

Single-cell transcriptome identifies FCGR3B upregulated subtype of alveolar macrophages in patients with critical COVID-19

by Nasna Nassir, Richa Tambi, Asma Bankapur, Saba Al Heialy, Noushad Karuvantevida, Hamda Hassan Khansaheb, Binte Zehra, Ghausia Begum, Reem Abdel Hameid, Awab Ahmed, Zulfa Deesi, Abdulmajeed Alkhajeh, K.M. Furkan Uddin, Hosneara Akter, Seyed Ali Safizadeh Shabestari, Omar Almidani, Amirul Islam, Mellissa Gaudet, Richard Kumaran Kandasamy, Tom Loney, Ahmad Abou Tayoun, Norbert Nowotny, Marc Woodbury-Smith, Proton Rahman, Wolfgang M. Kuebler, Mahmood Yaseen Hachim, Jean-Laurent Casanova, Bakhrom K. Berdiev, Alawi Alsheikh-Ali, Mohammed Uddin
Published 2021-09-01