A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data
Trost, Brett, Walker, Susan, Wang, Zhuozhi, Thiruvahindrapuram, Bhooma, MacDonald, Jeffrey R., Sung, Wilson W.L., Pereira, Sergio L., Whitney, Joe, Chan, Ada J.S., Pellecchia, Giovanna, Reuter, Miriam S., Lok, Si, Yuen, Ryan K.C., Marshall, Christian R., Merico, Daniele, Scherer, Stephen W.
Published in American journal of human genetics (04.01.2018)
Published in American journal of human genetics (04.01.2018)
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Journal Article
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
Chan, Ada J S, Engchuan, Worrawat, Reuter, Miriam S, Wang, Zhuozhi, Thiruvahindrapuram, Bhooma, Trost, Brett, Nalpathamkalam, Thomas, Negrijn, Carol, Lamoureux, Sylvia, Pellecchia, Giovanna, Patel, Rohan V, Sung, Wilson W L, MacDonald, Jeffrey R, Howe, Jennifer L, Vorstman, Jacob, Sondheimer, Neal, Takahashi, Nicole, Miles, Judith H, Anagnostou, Evdokia, Tammimies, Kristiina, Zarrei, Mehdi, Merico, Daniele, Stavropoulos, Dimitri J, Yuen, Ryan K C, Fernandez, Bridget A, Scherer, Stephen W
Published in Nature communications (29.10.2022)
Published in Nature communications (29.10.2022)
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Journal Article
Three generation families: Analysis of de novo variants in autism
Costa, Claudia I Samogy, da Silva Campos, Gabriele, da Silva Montenegro, Eduarda Morgana, Wang, Jaqueline Yu Ting, Scliar, Marília, Monfardini, Frederico, Zachi, Elaine Cristina, Lourenço, Naila C V, Chan, Ada J S, Pereira, Sergio L, Engchuan, Worrawat, Thiruvahindrapuram, Bhooma, Zarrei, Mehdi, Scherer, Stephen W, Passos-Bueno, Maria Rita
Published in European journal of human genetics : EJHG (01.09.2023)
Published in European journal of human genetics : EJHG (01.09.2023)
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Journal Article
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing
Ding, Qiliang, Somerville, Cherith, Manshaei, Roozbeh, Trost, Brett, Reuter, Miriam S., Kalbfleisch, Kelsey, Stanley, Kaitlin, Okello, John B. A., Hosseini, S. Mohsen, Liston, Eriskay, Curtis, Meredith, Zarrei, Mehdi, Higginbotham, Edward J., Chan, Ada J. S., Engchuan, Worrawat, Thiruvahindrapuram, Bhooma, Scherer, Stephen W., Kim, Raymond H., Jobling, Rebekah K.
Published in Human genetics (01.02.2023)
Published in Human genetics (01.02.2023)
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Journal Article
Factors Affecting the Success of a Construction Project
Chan, Albert P. C, Scott, David, Chan, Ada P. L
Published in Journal of construction engineering and management (01.02.2004)
Published in Journal of construction engineering and management (01.02.2004)
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Journal Article
Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants
Chan, Ada J S, Cytrynbaum, Cheryl, Hoang, Ny, Ambrozewicz, Patricia M, Weksberg, Rosanna, Drmic, Irene, Ritzema, Anne, Schachar, Russell, Walker, Susan, Uddin, Mohammed, Zarrei, Mehdi, Yuen, Ryan K C, Scherer, Stephen W
Published in Npj genomic medicine (26.04.2019)
Published in Npj genomic medicine (26.04.2019)
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Journal Article
Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort
da Silva Montenegro, Eduarda Morgana, Costa, Claudia Samogy, Campos, Gabriele, Scliar, Marília, de Almeida, Tatiana Ferreira, Zachi, Elaine Cristina, Silva, Isabela Maya Wahys, Chan, Ada J S, Zarrei, Mehdi, Lourenço, Naila C V, Yamamoto, Guilherme Lopes, Scherer, Stephen, Passos-Bueno, Maria Rita
Published in Autism research (01.02.2020)
Published in Autism research (01.02.2020)
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Journal Article
Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots
Uddin, Mohammed, Woodbury-Smith, Marc, Chan, Ada J S, Albanna, Ammar, Minassian, Berge, Boelman, Cyrus, Scherer, Stephen W
Published in G3 : genes - genomes - genetics (01.04.2018)
Published in G3 : genes - genomes - genetics (01.04.2018)
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Journal Article
Analytic Study for Predictor Development on Student Participation in Generic Competence Development Activities based on Academic Performance
So, Joseph Chi-ho, Ho, Yik-him, Wong, Adam Ka-lok, Chan, Henry C. B., Tsang, Kia Ho-yin, Chan, Ada Pui-ling, Wong, Simon Chi-wang
Published in IEEE Transactions on Learning Technologies (01.10.2023)
Published in IEEE Transactions on Learning Technologies (01.10.2023)
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Journal Article
P581: Multiple mitochondrial DNA deletions in patients with myopathy
Wang, Jing, Chan, Ada, Peterson, James, Wood, Kathleen, Diaz-Miranda, Maria Alejandra, Tara, Archana, Goldstein, Amy, Zolkipli-Cunningham, Zarazuela, McCormick, Elizabeth M., Muraresku, Colleen, Dulik, Matthew, Wallace, Douglas, Falk, Marni
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes
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
Published in Neurology. Genetics (01.12.2017)
Published in Neurology. Genetics (01.12.2017)
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Journal Article
TRPM7 and TRPM8 Ion Channels in Pancreatic Adenocarcinoma : Potential Roles as Cancer Biomarkers and Targets
Yee, Nelson S., Chan, Ada S., Yee, Julian D., Yee, Rosemary K.
Published in Scientifica (Cairo) (01.01.2012)
Published in Scientifica (Cairo) (01.01.2012)
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Journal Article
Pretty good state transfer in discrete-time quantum walks
Chan, Ada, Zhan, Hanmeng
Published in Journal of physics. A, Mathematical and theoretical (21.04.2023)
Published in Journal of physics. A, Mathematical and theoretical (21.04.2023)
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Journal Article
A large data resource of genomic copy number variation across neurodevelopmental disorders
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
Published in Npj genomic medicine (07.10.2019)
Published in Npj genomic medicine (07.10.2019)
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Journal Article