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A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-15
By:
- Demos, Michelle K.;
- van Karnebeek, Clara D. M.;
- Ross, Colin J. D.;
- Adam, Shelin;
- Yaoqing Shen;
- Shing Hei Zhan;
- Shyr, Casper;
- Horvath, Gabriella;
- Mohnish Suri;
- Fryer, Alan;
- Jones, Steven J. M.;
- Friedman, Jan M.
Publication type:
Article
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
Published in:
2014
By:
- Demos, Michelle K;
- van Karnebeek, Clara Dm;
- Ross, Colin Jd;
- Adam, Shelin;
- Shen, Yaoqing;
- Zhan, Shing Hei;
- Shyr, Casper;
- Horvath, Gabriella;
- Suri, Mohnish;
- Fryer, Alan;
- Jones, Steven Jm;
- Friedman, Jan M;
- FORGE Canada Consortium
Publication type:
journal article
Slow Off-Rate Modified Aptamer (SOMAmer) Proteomic Analysis of Patient-Derived Malignant Glioma Identifies Distinct Cellular Proteomes.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 17, p. 9566, doi. 10.3390/ijms22179566
By:
- Thanasupawat, Thatchawan;
- Glogowska, Aleksandra;
- Pascoe, Christopher;
- Krishnan, Sai Nivedita;
- Munir, Maliha;
- Begum, Farhana;
- Beiko, Jason;
- Krcek, Jerry;
- Del Bigio, Marc R.;
- Pitz, Marshall;
- Shen, Yaoqing;
- Spicer, Victor;
- Coombs, Kevin M.;
- Wilkins, John;
- Hombach-Klonisch, Sabine;
- Klonisch, Thomas
Publication type:
Article
Effect of light period on egg-discharge of gametophyte clones of Undaria pinnatifida (Phaeophyta).
Published in:
Journal of Applied Phycology, 2004, v. 16, n. 6, p. 519
By:
- Jianxin Liu;
- Liangfeng Dong;
- Yaoqing Shen;
- Chaoyuan Wu
Publication type:
Article
Genome Destabilizing Mutator Alleles Drive Specific Mutational Trajectories in Saccharomyces cerevisiae.
Published in:
Genetics, 2014, v. 196, n. 2, p. 403, doi. 10.1534/genetics.113.159806
By:
- Stirling, Peter C.;
- Shen, Yaoqing;
- Corbett, Richard;
- Jones, Steven J. M.;
- Hieter, Philip
Publication type:
Article
A novel mutation in EED associated with overgrowth.
Published in:
Journal of Human Genetics, 2015, v. 60, n. 6, p. 339, doi. 10.1038/jhg.2015.26
By:
- Cohen, Ana S A;
- Tuysuz, Beyhan;
- Shen, Yaoqing;
- Bhalla, Sanjiv K;
- Jones, Steven J M;
- Gibson, William T
Publication type:
Article
Long‐read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1589, doi. 10.1002/ajmg.a.62676
By:
- Boerkoel, Pierre K.;
- Dixon, Katherine;
- Fitzsimons, Carrie;
- Shen, Yaoqing;
- Huynh, Stephanie;
- Schlade‐Bartusiak, Kamilla;
- Culibrk, Luka;
- Chan, Simon;
- Boerkoel, Cornelius F.;
- Jones, Steven J. M.;
- Chin, Hui‐Lin
Publication type:
Article
An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 926, doi. 10.1002/ajmg.a.62578
By:
- Chin, Hui‐Lin;
- Huynh, Stephanie;
- Ashkani, Jahanshah;
- Castaldo, Michael;
- Dixon, Katherine;
- Selby, Kathryn;
- Shen, Yaoqing;
- Wright, Marie;
- Boerkoel, Cornelius F.;
- Hendson, Glenda;
- Jones, Steven J. M.
Publication type:
Article
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3087, doi. 10.1002/ajmg.a.38400
By:
- Thibodeau, My Linh;
- Peters, Colin H.;
- Townsend, Katelin N.;
- Shen, Yaoqing;
- Hendson, Glenda;
- Adam, Shelin;
- Selby, Kathryn;
- Macleod, Patrick M.;
- Gershome, Cynthia;
- Ruben, Peter;
- Jones, Steven J. M.;
- Friedman, Jan M.;
- Gibson, William T.;
- Horvath, Gabriella A.
Publication type:
Article
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.
Published in:
Nature Genetics, 2014, v. 46, n. 11, p. 1245, doi. 10.1038/ng.3113
By:
- Chetaille, Philippe;
- Côté, Jean-Marc;
- Houde, Christine;
- Castilloux, Julie;
- Zhan, Shing H;
- Shen, Yaoqing;
- Jones, Steven J M;
- Jomphe, Michèle;
- Andelfinger, Gregor;
- Preuss, Christoph;
- Piché, Jessica;
- Gosset, Natacha;
- Leclerc, Séverine;
- Wünnemann, Florian;
- Thibeault, Maryse;
- Gagnon, Carmen;
- Cameron, Michel;
- Burkhard, Silja;
- Bakkers, Jeroen;
- Galli, Antonella
Publication type:
Article
Ortholog identification in the presence of domain architecture rearrangement.
Published in:
Briefings in Bioinformatics, 2011, v. 12, n. 5, p. 413, doi. 10.1093/bib/bbr036
By:
- Sjölander, Kimmen;
- Datta, Ruchira S.;
- Shen, Yaoqing;
- Shoffner, Grant M.
Publication type:
Article
macroH2A2 antagonizes epigenetic programs of stemness in glioblastoma.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38919-2
By:
- Nikolic, Ana;
- Maule, Francesca;
- Bobyn, Anna;
- Ellestad, Katrina;
- Paik, Seungil;
- Marhon, Sajid A.;
- Mehdipour, Parinaz;
- Lun, Xueqing;
- Chen, Huey-Miin;
- Mallard, Claire;
- Hay, Alexander J.;
- Johnston, Michael J.;
- Gafuik, Christopher J.;
- Zemp, Franz J.;
- Shen, Yaoqing;
- Ninkovic, Nicoletta;
- Osz, Katalin;
- Labit, Elodie;
- Berger, N. Daniel;
- Brownsey, Duncan K.
Publication type:
Article
Personalized Oncogenomics: Clinical Experience with Malignant Peritoneal Mesothelioma Using Whole Genome Sequencing.
Published in:
PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0119689
By:
- Sheffield, Brandon S.;
- Tinker, Anna V.;
- Shen, Yaoqing;
- Hwang, Harry;
- Li-Chang, Hector H.;
- Pleasance, Erin;
- Ch’ng, Carolyn;
- Lum, Amy;
- Lorette, Julie;
- McConnell, Yarrow J.;
- Sun, Sophie;
- Jones, Steven J. M.;
- Gown, Allen M.;
- Huntsman, David G.;
- Schaeffer, David F.;
- Churg, Andrew;
- Yip, Stephen;
- Laskin, Janessa;
- Marra, Marco A.
Publication type:
Article
Establishing a Framework for the Clinical Translation of Germline Findings in Precision Oncology.
Published in:
JNCI Cancer Spectrum, 2020, v. 4, n. 5, p. 1, doi. 10.1093/jncics/pkaa045
By:
- Dixon, Katherine;
- Young, Sean;
- Shen, Yaoqing;
- Thibodeau, My Linh;
- Fok, Alexandra;
- Pleasance, Erin;
- Zhao, Eric;
- Jones, Martin;
- Aubert, Geraldine;
- Armstrong, Linlea;
- Virani, Alice;
- Regier, Dean;
- Gelmon, Karen;
- Renouf, Dan;
- Chia, Stephen;
- Bosdet, Ian;
- Rassekh, S Rod;
- Deyell, Rebecca J;
- Yip, Stephen;
- Fisic, Ana
Publication type:
Article
Comparative genomic and genetic analysis of glioblastoma-derived brain tumor-initiating cells and their parent tumors.
Published in:
Neuro-Oncology, 2016, v. 18, n. 3, p. 350, doi. 10.1093/neuonc/nov143
By:
- Davis, Brad;
- Yaoqing Shen;
- Poon, Candice C.;
- Luchman, H. Artee;
- Stechishin, Owen D.;
- Pontifex, Carly S.;
- Wei Wu;
- Kelly, John J.;
- Blough, Michael D.
Publication type:
Article
COMBINED DRUG SCREENING AND PHOSPHOPROTEOMICS IDENTIFIES CANDIDATE BRAIN TUMOR THERAPEUTICS AND NOVEL TARGETS IN PRIMARY HUMAN BRAIN TUMOR-INITIATING CELLS.
Published in:
Neuro-Oncology, 2014, v. 16, n. suppl_3, p. iii20, doi. 10.1093/neuonc/nou206.72
By:
- Kaplan, David;
- Grinshtein, Natalie;
- Rioseco, Constanza;
- Luchman, Artee;
- Datti, Alessandro;
- Aman, Ahmed;
- Uehling, David;
- Prakesch, Michael;
- Wrana, Jeff;
- Cairncross, Greg;
- Shen, Yaoqing;
- Jones, Steve;
- Marra, Marco;
- Senger, Donna;
- Robbins, Steve;
- Al-Awar, Rima;
- Moran, Mike;
- Weiss, Samuel
Publication type:
Article
Genetic Counseling in Direct-to-Consumer Exome Sequencing: A Case Report.
Published in:
2014
By:
- Berg, Saskia;
- Shen, Yaoqing;
- Jones, Steven;
- Gibson, William
Publication type:
Case Study
NTRK2 Fusion driven pediatric glioblastoma: Identification of oncogenic Drivers via integrative Genome and transcriptome profiling.
Published in:
Clinical Case Reports, 2021, v. 9, n. 3, p. 1472, doi. 10.1002/ccr3.3804
By:
- Britton, Heidi M.;
- Levine, Adrian B.;
- Shen, Yaoqing;
- Mungall, Karen;
- Serrano, Jonathan;
- Snuderl, Matija;
- Pleasance, Erin;
- Jones, Steven J. M.;
- Laskin, Janessa;
- Marra, Marco A.;
- Rassekh, Shahrad R.;
- Deyell, Rebecca;
- Yip, Stephen;
- Cheng, Sylvia;
- Dunham, Chris
Publication type:
Article
Whole genome transcriptome analysis in a case of a neonatal soft tissue sarcoma with YWHAE:NUTM2B fusion.
Published in:
Pediatric Blood & Cancer, 2023, v. 70, n. 7, p. 1, doi. 10.1002/pbc.30310
By:
- Locke, Arielle;
- Terry, Jefferson;
- Shen, Yaoqing;
- Courtemanche, Douglas;
- Rosenbaum, Daniel G.;
- Rassekh, S. Rod;
- Deyell, Rebecca J.;
- Cheng, Sylvia
Publication type:
Article
The impact of whole genome and transcriptome analysis (WGTA) on predictive biomarker discovery and diagnostic accuracy of advanced malignancies.
Published in:
Journal of Pathology: Clinical Research, 2022, v. 8, n. 4, p. 395, doi. 10.1002/cjp2.265
By:
- Tessier‐Cloutier, Basile;
- Grewal, Jasleen K;
- Jones, Martin R;
- Pleasance, Erin;
- Shen, Yaoqing;
- Cai, Ellen;
- Dunham, Chris;
- Hoang, Lynn;
- Horst, Basil;
- Huntsman, David G;
- Ionescu, Diana;
- Karnezis, Anthony N;
- Lee, Anna F;
- Lee, Cheng Han;
- Lee, Tae Hoon;
- Twa, David DW;
- Mungall, Andrew J;
- Mungall, Karen;
- Naso, Julia R;
- Ng, Tony
Publication type:
Article
Diagnostic Value of Next-Generation Sequencing in an Unusual Sphenoid Tumor.
Published in:
Oncologist, 2014, v. 19, n. 6, p. 623, doi. 10.1634/theoncologist.2013-0390
By:
- Jamshidi, Farzad;
- Pleasance, Erin;
- Li, Yvonne;
- Shen, Yaoqing;
- Kasaian, Katayoon;
- Corbett, Richard;
- Eirew, Peter;
- Lum, Amy;
- Pandoh, Pawan;
- Zhao, Yongjun;
- Schein, Jacqueline E.;
- Moore, Richard A.;
- Rassekh, Rod;
- Huntsman, David G.;
- Knowling, Meg;
- Lim, Howard;
- Renouf, Daniel J.;
- Jones, Steven J.M.;
- Marra, Marco A.;
- Nielsen, Torsten O.
Publication type:
Article
Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-48363-5
By:
- Deyell, Rebecca J.;
- Shen, Yaoqing;
- Titmuss, Emma;
- Dixon, Katherine;
- Williamson, Laura M.;
- Pleasance, Erin;
- Nelson, Jessica M. T.;
- Abbasi, Sanna;
- Krzywinski, Martin;
- Armstrong, Linlea;
- Bonakdar, Melika;
- Ch'ng, Carolyn;
- Chuah, Eric;
- Dunham, Chris;
- Fok, Alexandra;
- Jones, Martin;
- Lee, Anna F.;
- Ma, Yussanne;
- Moore, Richard A.;
- Mungall, Andrew J.
Publication type:
Article
ABT-888 restores sensitivity in temozolomide resistant glioma cells and xenografts.
Published in:
PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0202860
By:
- Yuan, Alice L.;
- Ricks, Christian B.;
- Bohm, Alexandra K.;
- Lun, Xueqing;
- Maxwell, Lori;
- Safdar, Shahana;
- Bukhari, Shazreh;
- Gerber, Amanda;
- Sayeed, Wajid;
- Bering, Elizabeth. A.;
- Pedersen, Haley;
- Chan, Jennifer A.;
- Shen, Yaoqing;
- Marra, Marco;
- Kaplan, David R.;
- Mason, Warren;
- Goodman, Lindsey D.;
- Ezhilarasan, Ravesanker;
- Kaufmann, Ascher B.;
- Cabral, Matthew
Publication type:
Article
Immunohistochemistry for NF2, LATS1/2, and YAP/TAZ Fails to Separate Benign From Malignant Mesothelial Proliferations.
Published in:
Archives of Pathology & Laboratory Medicine, 2016, v. 140, n. 5, p. 391, doi. 10.5858/arpa.2015-0508-LE
By:
- Sheffield, Brandon S.;
- Lorette, Julie;
- Yaoqing Shen;
- Marra, Marco A.;
- Churg, Andrew
Publication type:
Article
Glioma-derived IL-33 orchestrates an inflammatory brain tumor microenvironment that accelerates glioma progression.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-18569-4
By:
- De Boeck, Astrid;
- Ahn, Bo Young;
- D'Mello, Charlotte;
- Lun, Xueqing;
- Menon, Shyam V.;
- Alshehri, Mana M.;
- Szulzewsky, Frank;
- Shen, Yaoqing;
- Khan, Lubaba;
- Dang, Ngoc Ha;
- Reichardt, Elliott;
- Goring, Kimberly-Ann;
- King, Jennifer;
- Grisdale, Cameron J.;
- Grinshtein, Natalie;
- Hambardzumyan, Dolores;
- Reilly, Karlyne M.;
- Blough, Michael D.;
- Cairncross, J. Gregory;
- Yong, V. Wee
Publication type:
Article

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