Artificial intelligence for precision medicine in neurodevelopmental disorders

por Uddin, Mohammed, Wang, Yujiang, Woodbury-Smith, Marc
Publicado 2019

Vulnerability to Ideologically-Motivated Violence Among Individuals With Autism Spectrum Disorder

por Woodbury-Smith, Marc R., Loftin, Rachel, Westphal, Alexander, Volkmar, Fred R.
Publicado 2022

Clinical heterogeneity among people with high functioning autism spectrum conditions: evidence favouring a continuous severity gradient

por Ring, Howard, Woodbury-Smith, Marc, Watson, Peter, Wheelwright, Sally, Baron-Cohen, Simon
Publicado 2008

Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots

por Uddin, Mohammed, Woodbury-Smith, Marc, Chan, Ada J. S., Albanna, Ammar, Minassian, Berge, Boelman, Cyrus, Scherer, Stephen W.
Publicado 2018

Common practical questions – and answers – at the British Association for Psychopharmacology child and adolescent psychopharmacology course

por Cortese, Samuele, Besag, Frank MC, Clark, Bruce, Hollis, Chris, Kilgariff, Joseph, Moreno, Carmen, Nicholls, Dasha, Wilkinson, Paul, Woodbury-Smith, Marc, Sharma, Aditya
Publicado 2022

A Systematic Review of What Barriers and Facilitators Prevent and Enable Physical Healthcare Services Access for Autistic Adults

por Mason, David, Ingham, Barry, Urbanowicz, Anna, Michael, Cos, Birtles, Heather, Woodbury-Smith, Marc, Brown, Toni, James, Ian, Scarlett, Clare, Nicolaidis, Christina, Parr, Jeremy R.
Publicado 2019

Mutational Landscape of Autism Spectrum Disorder Brain Tissue

por Woodbury-Smith, Marc, Lamoureux, Sylvia, Begum, Ghausia, Nassir, Nasna, Akter, Hosneara, O’Rielly, Darren D., Rahman, Proton, Wintle, Richard F., Scherer, Stephen W., Uddin, Mohammed
Publicado 2022

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

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

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

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

An ANKRD26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome)

por Uddin, K. M. Furkan, Amin, Robed, Majumder, Sabbiha Nadia, Aleem, Mohammad Abdul, Rahaman, Atikur, Dity, Nushrat Jahan, Baqui, M. D. Abdul, Akter, Hosneara, Rahman, Muhammad Mizanur, Woodbury‐Smith, Marc, Scherer, Stephen, Uddin, Mohammed
Publicado 2018

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

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

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

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

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

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

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes

por Uddin, Mohammed, Woodbury-Smith, Marc, Chan, Ada, Brunga, Ledia, Lamoureux, Sylvia, Pellecchia, Giovanna, Yuen, Ryan K.C., Faheem, Muhammad, Stavropoulos, Dimitri J., Drake, James, Hahn, Cecil D., Hawkins, Cynthia, Shlien, Adam, Marshall, Christian R., Turner, Lesley A., Minassian, Berge A., Scherer, Stephen W., Boelman, Cyrus
Publicado 2017

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

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

OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome

por Uddin, Mohammed, Unda, Brianna K., Kwan, Vickie, Holzapfel, Nicholas T., White, Sean H., Chalil, Leon, Woodbury-Smith, Marc, Ho, Karen S., Harward, Erin, Murtaza, Nadeem, Dave, Biren, Pellecchia, Giovanna, D’Abate, Lia, Nalpathamkalam, Thomas, Lamoureux, Sylvia, Wei, John, Speevak, Marsha, Stavropoulos, James, Hope, Kristin J., Doble, Brad W., Nielsen, Jacob, Wassman, E. Robert, Scherer, Stephen W., Singh, Karun K.
Publicado 2018

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

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

Gene copy number variation and pediatric mental health/neurodevelopment in a general population

por Zarrei, Mehdi, Burton, Christie L, Engchuan, Worrawat, Higginbotham, Edward J, Wei, John, Shaikh, Sabah, Roslin, Nicole M, MacDonald, Jeffrey R, Pellecchia, Giovanna, Nalpathamkalam, Thomas, Lamoureux, Sylvia, Manshaei, Roozbeh, Howe, Jennifer, Trost, Brett, Thiruvahindrapuram, Bhooma, Marshall, Christian R, Yuen, Ryan K C, Wintle, Richard F, Strug, Lisa J, Stavropoulos, Dimitri J, Vorstman, Jacob A S, Arnold, Paul, Merico, Daniele, Woodbury-Smith, Marc, Crosbie, Jennifer, Schachar, Russell J, Scherer, Stephen W
Publicado 2023

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

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

A large data resource of genomic copy number variation across neurodevelopmental disorders

por Zarrei, Mehdi, Burton, Christie L., Engchuan, Worrawat, Young, Edwin J., Higginbotham, Edward J., MacDonald, Jeffrey R., Trost, Brett, Chan, Ada J. S., Walker, Susan, Lamoureux, Sylvia, Heung, Tracy, Mojarad, Bahareh A., Kellam, Barbara, Paton, Tara, Faheem, Muhammad, Miron, Karin, Lu, Chao, Wang, Ting, Samler, Kozue, Wang, Xiaolin, Costain, Gregory, Hoang, Ny, Pellecchia, Giovanna, Wei, John, Patel, Rohan V., Thiruvahindrapuram, Bhooma, Roifman, Maian, Merico, Daniele, Goodale, Tara, Drmic, Irene, Speevak, Marsha, Howe, Jennifer L., Yuen, Ryan K. C., Buchanan, Janet A., Vorstman, Jacob A. S., Marshall, Christian R., Wintle, Richard F., Rosenberg, David R., Hanna, Gregory L., Woodbury-Smith, Marc, Cytrynbaum, Cheryl, Zwaigenbaum, Lonnie, Elsabbagh, Mayada, Flanagan, Janine, Fernandez, Bridget A., Carter, Melissa T., Szatmari, Peter, Roberts, Wendy, Lerch, Jason, Liu, Xudong, Nicolson, Rob, Georgiades, Stelios, Weksberg, Rosanna, Arnold, Paul D., Bassett, Anne S., Crosbie, Jennifer, Schachar, Russell, Stavropoulos, Dimitri J., Anagnostou, Evdokia, Scherer, Stephen W.
Publicado 2019