Adam Shlien

Adam Shlien

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Adam Shlien

Adam Shlien

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Aggressive embryonal rhabdomyosarcoma in a 3-month-old boy: A clinical and molecular analysis.

Pediatr Hematol Oncol 2018 Oct - Nov;35(7-8):407-414. Epub 2019 Feb 26.

a Division of Haematology/Oncology, The Hospital for Sick Children, Department of Pediatrics , University of Toronto , Toronto , ON , Canada.

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http://dx.doi.org/10.1080/08880018.2019.1569185DOI Listing
April 2019

mTOR Inhibitors as a New Therapeutic Strategy in Treatment Resistant Epilepsy in Hemimegalencephaly: A Case Report.

J Child Neurol 2019 Mar 5;34(3):132-138. Epub 2018 Dec 5.

1 Division of Neurology, University of British Columbia, BC Children's Hospital, Vancouver, BC, Canada.

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http://dx.doi.org/10.1177/0883073818813238DOI Listing
March 2019

Response to Immune Checkpoint Inhibition in Two Patients with Alveolar Soft-Part Sarcoma.

Cancer Immunol Res 2018 09 17;6(9):1001-1007. Epub 2018 Jul 17.

Department of Medical Oncology and Hematology, Princess Margaret Cancer Centre, Toronto, Canada.

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http://cancerimmunolres.aacrjournals.org/lookup/doi/10.1158/
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http://dx.doi.org/10.1158/2326-6066.CIR-18-0037DOI Listing
September 2018

Optimized knock-in of point mutations in zebrafish using CRISPR/Cas9.

Nucleic Acids Res 2018 09;46(17):9252

Departments of Pediatrics, Microbiology & Immunology, and Pathology, Dalhousie University, Halifax, NS, B3H 4R2, Canada.

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http://dx.doi.org/10.1093/nar/gky674DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6158599PMC
September 2018

DICER1 Mutations Are Frequent in Adolescent-Onset Papillary Thyroid Carcinoma.

J Clin Endocrinol Metab 2018 05;103(5):2009-2015

Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1210/jc.2017-02698DOI Listing
May 2018

Germline and somatic mutations in with diverse neurodevelopmental phenotypes.

Neurol Genet 2017 Dec 18;3(6):e199. Epub 2017 Dec 18.

Mohammed Bin Rashid University of Medicine and Health Sciences (M.U.), Dubai, UAE; The Centre for Applied Genomics (M.U., M.W.), Program in Genetics and Genome Biology (GGB) (A.C., L.B., S.L., G.P., R.K.C.Y., M.F., A.S., B.A.M., S.W.S.), Genome Diagnostics (D.J.S., C.R.M.), Paediatric Laboratory Medicine, Division of Neurosurgery (J.D., B.A.M.), and Division of Neurology (C.D.H.), The Hospital for Sick Children, Toronto, Ontario, Canada; Institute of Neuroscience (M.W.), Newcastle University, UK; Department of Molecular Genetics (A.C., S.W.S.), Department of Paediatrics (C.D.H., C.H.), and McLaughlin Centre (S.W.S.), University of Toronto, Ontario, Canada; Discipline of Genetics (L.A.T.), Faculty of Medicine, Memorial University of Newfoundland, St. John's, Canada; and Division of Neurology (C.B.), BC Children's Hospital, Vancouver, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735305PMC
December 2017

Comprehensive Analysis of Hypermutation in Human Cancer.

Cell 2017 Nov 19;171(5):1042-1056.e10. Epub 2017 Oct 19.

Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada; Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2017.09.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849393PMC
November 2017

Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency.

J Clin Oncol 2016 07 21;34(19):2206-11. Epub 2016 Mar 21.

Eric Bouffet, Brittany B. Campbell, Daniele Merico, Richard de Borja, Carol Durno, Joerg Krueger, Vanja Cabric, Vijay Ramaswamy, Nataliya Zhukova, Peter Dirks, Michael Taylor, David Malkin, Cynthia E. Hawkins, Adam Shlien, and Uri Tabori, The Hospital for Sick Children, Toronto; Melyssa Aronson, and Zane Cohen, Zane Cohen Centre for Digestive Diseases, Mount Sinai, Ontario; Valérie Larouche and Rachel Laframboise, Université Laval, Quebec City; Jeffrey Atkinson, Montreal Children's Hospital; Steffen Albrecht, Roy W.R. Dudley, and Nada Jabado, McGill University, Montreal, Montreal, Quebec; Samina Afzal, IWK Health Centre, Halifax, Nova Scotia; Vanan Magimairajan, Cancer Care Manitoba and University of Manitoba, Winnipeg, Manitoba, Canada; Gary Mason, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA; Roula Farah, Saint George Hospital University Medical Center, Beirut, Lebanon; Michal Yalon and Gideon Rechavi, Sheba Medical Center, Tel Hashomer; Shlomi Constantini, Rina Dvir, and Ronit Elhasid, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Michael F. Walsh, Memorial Sloan Kettering Center, New York, NY; Alyssa Reddy, University of Alabama at Birmingham, Birmingham, AL; Michael Osborn, Women's and Children's Hospital, North Adelaide, South Australia; Michael Sullivan, Jordan Hansford, and Andrew Dodgshun, Royal Children's Hospital, Melbourne, Victoria, Australia; and Nancy Klauber-Demore, Lindsay Peterson, Sunil Patel, and Scott Lindhorst, Medical University of South Carolina, Charleston, SC.

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http://dx.doi.org/10.1200/JCO.2016.66.6552DOI Listing
July 2016

Translational Childhood Cancer Genomics: The Future Is Now.

JAMA Oncol 2016 Mar;2(3):384-5

Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada4Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada5The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children.

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http://dx.doi.org/10.1001/jamaoncol.2015.5076DOI Listing
March 2016

OncoCis: annotation of cis-regulatory mutations in cancer.

Genome Biol 2014 ;15(10):485

Prince of Wales Clinical School and Lowy Cancer Research Centre, UNSW, Australia, Sydney 2052, Australia.

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http://dx.doi.org/10.1186/s13059-014-0485-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4224696PMC
October 2015

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers.

Nat Genet 2015 Mar 2;47(3):257-62. Epub 2015 Feb 2.

1] Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. [2] The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada. [3] Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada. [4] Department of Pediatrics, University of Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/ng.3202DOI Listing
March 2015

BRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade glioma.

J Clin Oncol 2015 Mar 9;33(9):1015-22. Epub 2015 Feb 9.

Matthew Mistry, Nataliya Zhukova, Daniele Merico, Rahul Krishnatry, Mary Shago, James Stavropoulos, Noa Alon, Peter N. Ray, Vilma Navickiene, Joshua Mangerel, Marc Remke, Vijay Ramaswamy, Ana Guerreiro Stucklin, Martin Li, Edwin J. Young, Cindy Zhang, Pedro Castelo-Branco, Doua Bakry, Suzanne Laughlin, James T. Rutka, Peter B. Dirks, Michael D. Taylor, Mark Greenberg, David Malkin, Annie Huang, Eric Bouffet, Cynthia E. Hawkins, and Uri Tabori; The Hospital for Sick Children; Matthew Mistry, Patricia Rakopoulos, Rahul Krishnatry, Joshua Mangerel, Pawel Buczkowicz, Ana Guerreiro Stucklin, Doua Bakry, Adam Shlien, Mark Greenberg, David Malkin, Annie Huang, Eric Bouffet, Cynthia E. Hawkins, and Uri Tabori, University of Toronto; Jason D. Pole, Pediatric Oncology Group of Ontario, Toronto, Ontario; Jennifer Chan, Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada; Pedro Castelo-Branco, Universidade do Algarve, Faro, Portugal; Keith L. Ligon, Dana-Farber/Boston Children's Cancer Center, Boston, MA.

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http://dx.doi.org/10.1200/JCO.2014.58.3922DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4356711PMC
March 2015

Long read nanopore sequencing for detection of and variants and haplotypes.

F1000Res 2015 21;4:17. Epub 2015 Jan 21.

The Donnelly Centre, University of Toronto, Toronto, ON, M5S3E1, Canada.

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http://dx.doi.org/10.12688/f1000research.6037.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4392832PMC
January 2015

Mobile DNA in cancer. Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes.

Science 2014 Aug;345(6196):1251343

Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, UK.

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http://dx.doi.org/10.1126/science.1251343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4380235PMC
August 2014

A proteomic chronology of gene expression through the cell cycle in human myeloid leukemia cells.

Elife 2014 Jan 1;3:e01630. Epub 2014 Jan 1.

Centre for Gene Regulation and Expression, College of Life Sciences, University of Dundee, Dundee, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3936288PMC
http://dx.doi.org/10.7554/eLife.01630DOI Listing
January 2014

Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study.

Lancet Oncol 2011 Jun 19;12(6):559-67. Epub 2011 May 19.

Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1016/S1470-2045(11)70119-XDOI Listing
June 2011

IGF2 is highly expressed in pediatric undifferentiated sarcomas and reveals two distinct cytoplasmic trafficking patterns.

Pediatr Dev Pathol 2010 May-Jun;13(3):169-77

Department of Paediatric Laboratory Medicine, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada.

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http://journals.sagepub.com/doi/10.2350/09-02-0613-OA.1
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http://dx.doi.org/10.2350/09-02-0613-OA.1DOI Listing
September 2010

TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumors.

J Clin Oncol 2010 Apr 22;28(12):1995-2001. Epub 2010 Mar 22.

The Hospital for Sick Children, Division of Hematology/Oncology, 555 University Ave, Toronto, Ontario, M5G 1X8, Canada.

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http://dx.doi.org/10.1200/JCO.2009.26.8169DOI Listing
April 2010

Copy number variations and cancer susceptibility.

Curr Opin Oncol 2010 Jan;22(1):55-63

Department of Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1097/CCO.0b013e328333dca4DOI Listing
January 2010

Recurrent focal copy-number changes and loss of heterozygosity implicate two noncoding RNAs and one tumor suppressor gene at chromosome 3q13.31 in osteosarcoma.

Cancer Res 2010 Jan;70(1):160-71

Institute of Medical Science, Department of Medical Biophysics, University of Toronto, and Program in Genetics and Genome Biology, Department of Pediatric Laboratory Medicine, Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1158/0008-5472.CAN-09-1902DOI Listing
January 2010

Copy number variations and cancer.

Genome Med 2009 Jun 16;1(6):62. Epub 2009 Jun 16.

Departments of Genetics and Genome Biology and Division of Hematology/Oncology, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada, M5G 1X8.

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http://dx.doi.org/10.1186/gm62DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703871PMC
June 2009

Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome.

Proc Natl Acad Sci U S A 2008 Aug 6;105(32):11264-9. Epub 2008 Aug 6.

Program in Genetics and Genome Biology, Departments of Medical Biophysics, Centre for Applied Genomics, and Division of Hematology/Oncology, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1073/pnas.0802970105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2516272PMC
August 2008

Metabolic diapause in pancreatic beta-cells expressing a gain-of-function mutant of the forkhead protein Foxo1.

J Biol Chem 2007 Jan 15;282(1):287-93. Epub 2006 Nov 15.

Berrie Diabetes Center, Department of Medicine, Columbia University Medical Center, New York, New York 10032, USA.

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http://dx.doi.org/10.1074/jbc.M606118200DOI Listing
January 2007