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Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.
Published in:
Nature Genetics, 2014, v. 46, n. 7, p. 742, doi. 10.1038/ng.2980
By:
- Uddin, Mohammed;
- Tammimies, Kristiina;
- Pellecchia, Giovanna;
- Alipanahi, Babak;
- Hu, Pingzhao;
- Wang, Zhuozhi;
- Pinto, Dalila;
- Lau, Lynette;
- Nalpathamkalam, Thomas;
- Marshall, Christian R;
- Blencowe, Benjamin J;
- Frey, Brendan J;
- Merico, Daniele;
- Yuen, Ryan K C;
- Scherer, Stephen W
Publication type:
Article
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00254-0
By:
- Loureiro, Livia O.;
- Howe, Jennifer L.;
- Reuter, Miriam S.;
- Iaboni, Alana;
- Calli, Kristina;
- Roshandel, Delnaz;
- Pritišanac, Iva;
- Moses, Alan;
- Forman-Kay, Julie D.;
- Trost, Brett;
- Zarrei, Mehdi;
- Rennie, Olivia;
- Lau, Lynette Y. S.;
- Marshall, Christian R.;
- Srivastava, Siddharth;
- Godlewski, Brianna;
- Buttermore, Elizabeth D.;
- Sahin, Mustafa;
- Hartley, Dean;
- Frazier, Thomas
Publication type:
Article
Prevalence of Low-Frequency, Antiviral Resistance Variants in SARS-CoV-2 Isolates in Ontario, Canada, 2020-2023.
Published in:
JAMA Network Open, 2023, v. 6, n. 7, p. e2324963, doi. 10.1001/jamanetworkopen.2023.24963
By:
- Sjaarda, Calvin P.;
- Lau, Lynette;
- Simpson, Jared T.;
- Fattouh, Ramzi;
- Biondi, Mia J.;
- Maguire, Finlay;
- Campigotto, Aaron;
- Feng, Yujia;
- Tozer, Kyla;
- Wong, Henry;
- Sung, Wilson W. L.;
- Kim, Sean;
- Marshall, Christian R.;
- Sheth, Prameet M.;
- Kozak, Robert
Publication type:
Article
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.
Published in:
G3: Genes | Genomes | Genetics, 2015, v. 5, n. 8, p. 1775, doi. 10.1534/g3.115.019851
By:
- Marshall, Christian R.;
- Scherer, Stephen W.;
- Zariwala, Maimoona A.;
- Lau, Lynette;
- Paton, Tara A.;
- Stockley, Tracy;
- Jobling, Rebekah K.;
- Ray, Peter N.;
- Knowles, Michael R.;
- Hall, David A.;
- Dell, Sharon D.;
- Kim, Raymond H.
Publication type:
Article
Genome-wide Sequencing Identified Rare Genetic Variants for Childhood-onset Monogenic Lupus.
Published in:
Journal of Rheumatology, 2023, v. 50, n. 5, p. 671, doi. 10.3899/jrheum.220513
By:
- Misztal, Melissa C.;
- Fangming Liao;
- Couse, Madeline;
- Jingjing Cao;
- Dominguez, Daniela;
- Lau, Lynette;
- Marshall, Christian R.;
- Naumenko, Sergey;
- Knight, Andrea M.;
- Levy, Deborah M.;
- Hiraki, Linda T.;
- Misztal, Melissa;
- Liao, Fangming;
- Cao, Jingjing
Publication type:
Article
Incorporating Salivary Biomarkers Into Nursing Research: An Overview and Review of Best Practices.
Published in:
2012
By:
- Granger, Douglas A.;
- Johnson, Sara B.;
- Szanton, Sarah L.;
- Out, Dorothée;
- Schumann, Lynette Lau
Publication type:
Journal Article
Identification of a novel MSH6 germline variant in a family with multiple gastro-intestinal malignancies by next generation sequencing.
Published in:
Familial Cancer, 2015, v. 14, n. 1, p. 69, doi. 10.1007/s10689-014-9765-9
By:
- Connor, Ashton;
- Katzov-Eckert, Hagit;
- Whelan, Thomas;
- Aronson, Melyssa;
- Lau, Lynette;
- Marshall, Christian;
- Charames, George;
- Pollett, Aaron;
- Gallinger, Steven;
- Lerner-Ellis, Jordan
Publication type:
Article
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Published in:
JAMA: Journal of the American Medical Association, 2015, v. 314, n. 9, p. 895, doi. 10.1001/jama.2015.10078
By:
- Tammimies, Kristiina;
- Marshall, Christian R.;
- Walker, Susan;
- Kaur, Gaganjot;
- Thiruvahindrapuram, Bhooma;
- Lionel, Anath C.;
- Yuen, Ryan K. C.;
- Uddin, Mohammed;
- Roberts, Wendy;
- Weksberg, Rosanna;
- Woodbury-Smith, Marc;
- Zwaigenbaum, Lonnie;
- Anagnostou, Evdokia;
- Zhuozhi Wang;
- Wei, John;
- Howe, Jennifer L.;
- Gazzellone, Matthew J.;
- Lau, Lynette;
- Sung, Wilson W. L.;
- Whitten, Kathy
Publication type:
Article
Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome
Published in:
BMC Genomics, 2015, v. 16, p. S12, doi. 10.1186/1471-2164-16-S1-S12
By:
- Marshall, Christian R;
- Farrell, Sandra A;
- Cushing, Donna;
- Paton, Tara;
- Stockley, Tracy L;
- Stavropoulos, Dimitri J;
- Ray, Peter N;
- Szego, Michael;
- Lau, Lynette;
- Pereira, Sergio L;
- Cohn, Ronald D;
- Wintle, Richard F;
- Abuzenadah, Adel M;
- Abu-Elmagd, Muhammad;
- Scherer, Stephen W
Publication type:
Article

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