Publications


H3.3K27M Cooperates with Trp53 Loss and PDGFRA Gain in Mouse Embryonic Neural Progenitor Cells to Induce Invasive High-Grade Gliomas.
Cancer Cell 2017 Nov 26;32(5):684-700.e9. Epub 2017 Oct 26.
Samantha Dickson Brain Cancer Unit, UCL Cancer Institute, London WC1E 6DD, UK; Nuclear Function Group, German Centre for Neurodegenerative Diseases (DZNE), Sigmund-Freud-Straße 27, Bonn 53127, Germany. Electronic address:



Therapeutic and Prognostic Implications of BRAF V600E in Pediatric Low-Grade Gliomas.
J Clin Oncol 2017 Sep 20;35(25):2934-2941. Epub 2017 Jul 20.
Alvaro Lassaletta, Michal Zapotocky, Matthew Mistry, Vijay Ramaswamy, Marion Honnorat, Rahul Krishnatry, Ana Guerreiro Stucklin, Nataliya Zhukova, Anthony Arnoldo, Scott Ryall, Catriona Ling, Tara McKeown, Jim Loukides, James T. Rutka, Peter Dirks, Michael D. Taylor, Shiyi Chen, Ute Bartels, Annie Huang, Eric Bouffet, Cynthia Hawkins, and Uri Tabori, The Hospital for Sick Children, Toronto; Adam Fleming, McMaster Children's Hospital, McMaster University, Hamilton; Shayna Zelcer, Children's Hospital of Western Ontario, London, Ontario; David Eisenstat and Bev Wilson, Stollery Children's Hospital, University of Alberta, Edmonton, Alberta; Anne Sophie Carret, Hospital Sainte Justine; Nada Jabado, McGill University, Montreal; Valerie Larouche, Centre Hospitalier Universitaire de Québec, Québec City, Quebec, Canada; Ofelia Cruz and Carmen de Torres, Hospital Sant Joan de Déu, Barcelona, Spain; Cheng-Ying Ho, University of Maryland School of Medicine, Baltimore, MD; Roger J. Packer, Children's National Health System, Washington, DC; Ruth Tatevossian, Ibrahim Qaddoumi, Julie H. Harreld, James D. Dalton, and David W. Ellison, St Jude Children's Research Hospital, Memphis, TN; Jean Mulcahy-Levy and Nicholas Foreman, Children's Hospital Colorado, Aurora, CO; Matthias A. Karajannis, Shiyang Wang, and Matija Snuderl, New York University Langone Medical Center, New York, NY; Amulya Nageswara Rao and Caterina Giannini, The Mayo Clinic, Rochester, MN; Mark Kieran and Keith L. Ligon, Dana-Farber Cancer Institute, Boston Children's Hospital, Boston, MA; Maria Luisa Garre, Paolo Nozza, Samantha Mascelli, and Alessandro Raso, Istituto Giannina Gaslini, Genoa, Italy; Sabine Mueller and Theodore Nicolaides, University of California, San Francisco, San Francisco, CA; Karen Silva and Romain Perbet, Hospices Civils de Lyon; Alexandre Vasiljevic, Cécile Faure Conter, and Didier Frappaz, Institute of Pediatric Hematology and Oncology, Lyon, France; Sarah Leary and Courtney Crane, Seattle Children's Hospital, Seattle, WA; Aden Chan and Ho-Keung Ng, The Chinese University of Hong Kong, Hong Kong; Zhi-Feng Shi and Ying Mao, Huashan Hospital, Fudan University, Shanghai, People's Republic of China; Elizabeth Finch, University of North Carolina, School of Medicine, Chapel Hill, NC; Peter Hauser, Semmelweis University, Budapest, Hungary; and David Sumerauer and Lenka Krskova, University Hospital Motol, Charles University, 2nd Medical School, Prague, Czech Republic.

Diffuse intrinsic pontine gliomas-current management and new biologic insights. Is there a glimmer of hope?
Neuro Oncol 2017 Aug;19(8):1025-1034
Pediatric Oncology, The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, Maryland; Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Université Paris-Saclay & Gustave Roussy Unité Mixte de Recherche 8203 du Centre National de la Recherche Scientifique & Departement de Cancerologie de l'Enfant et de l'Adolescent, Villejuif, France.


Intertumoral Heterogeneity within Medulloblastoma Subgroups.
Cancer Cell 2017 Jun;31(6):737-754.e6
The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON M5S 1A1, Canada; Division of Neurosurgery, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada. Electronic address:




X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.
J Allergy Clin Immunol 2016 Dec 4;138(6):1681-1689.e8. Epub 2016 Jun 4.
Laboratory of Human Lymphohematopoiesis, INSERM UMR 1163, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Biotherapy Clinical Investigation Center, Necker Children's Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address:

Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid Tumors.
Cancer Cell 2016 Dec;30(6):891-908
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON M5G0A4, Canada; Department of Paediatrics, University of Toronto, Toronto, ON M5G0A4, Canada; Division of Hematology/Oncology, Hospital for Sick Children, Toronto, ON M5G1X8, Canada; Arthur and Sonia Labatt Brain Tumour Research Centre, Hospital for Sick Children, Toronto, ON M5G1X8, Canada. Electronic address:

Phase II Weekly Vinblastine for Chemotherapy-Naïve Children With Progressive Low-Grade Glioma: A Canadian Pediatric Brain Tumor Consortium Study.
J Clin Oncol 2016 Oct;34(29):3537-3543
Alvaro Lassaletta, Cynthia E. Hawkins, Rahul Krishnatry, Matthew Mistry, Anthony Arnoldo, Vijay Ramaswamy, Annie Huang, Ute Bartels, Uri Tabori, and Eric Bouffet, The Hospital for Sick Children, Toronto; Katrin Scheinemann, McMaster Children's Hospital; Shayna M. Zelcer, Children's Hospital of Western Ontario, London; Gregory Russell Pond, Ontario Clinical Oncology Group, McMaster University, Hamilton; Daniel Keene and Donna L. Johnston, Children's Hospital of Eastern Ontario, Ottawa, Ontario; Juliette Hukin and Ken Poskitt, British Columbia Children's Hospital, Vancouver, British Columbia; Beverley A. Wilson, University of Alberta Hospital; Lucie Lafay-Cousin, Alberta Children's Hospital, Calgary; David D. Eisenstat, Stollery Children's Hospital, Edmonton; Alberta; Nada Jabado, McGill University; Anne Sophie Carret, Hospital Sainte Justine, Montreal; Valerie Larouche, Centre Hospitalier Universitaire de Québec, Québec, Québec; and David D. Eisenstat, Cancer Care Manitoba, Winnipeg, Manitoba, Canada.

Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency.
J Clin Oncol 2016 Jul 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.

Therapeutic Impact of Cytoreductive Surgery and Irradiation of Posterior Fossa Ependymoma in the Molecular Era: A Retrospective Multicohort Analysis.
J Clin Oncol 2016 Jul 6;34(21):2468-77. Epub 2016 Jun 6.
Vijay Ramaswamy, Stephen C. Mack, Alvaro Lassaletta, Betty Luu, Florence M.G. Cavalli, Uri Tabori, Ute Bartels, Eric Bouffet, Cynthia E. Hawkins, James T. Rutka, Peter Dirks, and Michael D. Taylor, The Hospital for Sick Children; Vijay Ramaswamy, Kenneth Aldape, James T. Rutka, and Michael D. Taylor, University of Toronto; Kenneth Aldape, Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario; Christopher Dunham and Juliette Hukin, British Columbia Children's Hospital; Juliette Hukin, University of British Columbia, Vancouver, British Columbia; David D. Eisenstat, Dorcas Fulton, and Frank K.H. van Landeghem, University of Alberta, Edmonton; Jennifer A. Chan, University of Calgary, Calgary, Alberta; Nada Jabado and Kevin Petrecca, McGill University, Montreal, Quebec, Canada; Thomas Hielscher, Kristian W. Pajtler, David T.W. Jones, Marcel Kool, Stefan M. Pfister, and Andrey Korshunov, German Cancer Research Center; Stefan M. Pfister, University Hospital Heidelberg, Heidelberg; Marc Remke, University Hospital Düsseldorf, Düsseldorf; Martin Mynarek, Stefan Rutkowski, and Katja von Hoff, University Medical Center Hamburg-Eppendorf, Hamburg; Ulrich Schüller, Ludwig-Maximilians-Universität, Munich, Germany; Stephen C. Mack, Cleveland Clinic Foundation, Cleveland; Maryam Fouladi, University of Cincinnati, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Tong Lin, Amar Gajjar, Thomas E. Merchant, and David W. Ellison, St Jude Children's Research Hospital, Memphis; Lola B. Chambless, Vanderbilt Medical Center, Nashville, TN; Sridharan Gururangan, Roger E. McLendon, and Eric S. Lipp, Duke University, Durham; Jing Wu, University of North Carolina at Chapel Hill, Chapel Hill, NC; Mariarita Santi, Children's Hospital of Philadelphia; Lyndsey Emery, Hospital of the University of Pennsylvania, Philadelphia; Ronald L. Hamilton and Ian F. Pollack, University of Pittsburgh School of Medicine; Frank Lieberman, University of Pittsburgh Medical Cen



Murine diet/tissue and human brain tumorigenesis alter Mthfr/MTHFR 5'-end methylation.
Mamm Genome 2016 Apr 7;27(3-4):122-34. Epub 2016 Mar 7.
Departments of Human Genetics and Pediatrics, The Research Institute of the McGill University Health Centre, McGill University, 1001 Décarie Blvd., Bloc E, Rm E M0.3211, Montreal, H4A 3J1, Canada.

Prognostic value of medulloblastoma extent of resection after accounting for molecular subgroup: a retrospective integrated clinical and molecular analysis.
Lancet Oncol 2016 Apr 12;17(4):484-95. Epub 2016 Mar 12.
Division of Neurosurgery, The Hospital for Sick Children, Toronto, ON, Canada; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON, Canada; Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada. Electronic address:




Tissue Factor Regulation by miR-520g in Primitive Neuronal Brain Tumor Cells: A Possible Link between Oncomirs and the Vascular Tumor Microenvironment.
Am J Pathol 2016 Feb 12;186(2):446-59. Epub 2015 Dec 12.
Research Institute of the McGill University Health Centre, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada. Electronic address:

New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs.
Cell 2016 Feb;164(5):1060-1072
Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), 69120 Heidelberg, Germany.


Divergent clonal selection dominates medulloblastoma at recurrence.
Nature 2016 Jan 13;529(7586):351-7. Epub 2016 Jan 13.
Developmental &Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Ontario M5G 0A4, Canada.

An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation.
J Allergy Clin Immunol 2015 Dec 26;136(6):1619-1626.e5. Epub 2015 Jul 26.
INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France. Electronic address:

MLL5 Orchestrates a Cancer Self-Renewal State by Repressing the Histone Variant H3.3 and Globally Reorganizing Chromatin.
Cancer Cell 2015 Dec 25;28(6):715-729. Epub 2015 Nov 25.
Developmental and Stem Cell Biology Program and Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON M5S 1A8, Canada; Division of Neurosurgery, University of Toronto, Toronto, ON M5S 1A8, Canada. Electronic address:


Spinal Myxopapillary Ependymomas Demonstrate a Warburg Phenotype.
Clin Cancer Res 2015 Aug 8;21(16):3750-8. Epub 2015 May 8.
Developmental & Stem Cell Biology Program, Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada. Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada. Division of Neurosurgery, University of Toronto, Toronto, Ontario, Canada.



Molecular subgroups of atypical teratoid rhabdoid tumours in children: an integrated genomic and clinicopathological analysis.
Lancet Oncol 2015 May 14;16(5):569-82. Epub 2015 Apr 14.
Division of Hematology-Oncology, University of Toronto, Toronto, ON, Canada; Arthur and Sonia Labatt Brain Tumour Research Centre, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada; Department of Pediatrics, University of Toronto, Toronto, ON, Canada. Electronic address:

An inherited immunoglobulin class-switch recombination deficiency associated with a defect in the INO80 chromatin remodeling complex.
J Allergy Clin Immunol 2015 Apr 11;135(4):998-1007.e6. Epub 2014 Oct 11.
INSERM UMR 1163, The Human Lymphohematopoiesis Laboratory, Imagine Institute, Paris, France; Paris Descartes Sorbonne Paris Cité University, Imagine Institute, Paris, France; Department of Immunology and Hematology, Hôpital Necker Enfants Malades, F-75015 Paris, Paris, France. Electronic address:





Specific detection of methionine 27 mutation in histone 3 variants (H3K27M) in fixed tissue from high-grade astrocytomas.
Acta Neuropathol 2014 Nov 9;128(5):733-41. Epub 2014 Sep 9.
Departments of Experimental Medicine and of Human Genetics, McGill University, 4060 Ste Catherine West, PT239, Montreal, QC, H3Z2Z3, Canada.

CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation.
Nature 2014 Jun 28;510(7504):288-92. Epub 2014 May 28.
1] Laboratoire Activation Lymphocytaire et Susceptibilité à l'EBV, INSERM UMR 1163, Hôpital Necker Enfants-Malades, Paris 75015, France [2] Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris 75015, France [3] Laboratoire de Biochimie Métabolomique et Protéomique, Hôpital Necker Enfants-Malades, Paris 75015, France [4].


Cytogenetic prognostication within medulloblastoma subgroups.
J Clin Oncol 2014 Mar 3;32(9):886-96. Epub 2014 Feb 3.
David J.H. Shih, Marc Remke, Vijay Ramaswamy, Betty Luu, Yuan Yao, Xin Wang, Adrian M. Dubuc, Livia Garzia, John Peacock, Stephen C. Mack, Xiaochong Wu, Adi Rolider, A. Sorana Morrissy, Florence M.G. Cavalli, Claudia C. Faria, Stephen W. Scherer, Uri Tabori, Cynthia E. Hawkins, David Malkin, Eric Bouffet, James T. Rutka, and Michael D. Taylor, Hospital for Sick Children; David J.H. Shih, Marc Remke, Vijay Ramaswamy, Yuan Yao, Xin Wang, Adrian M. Dubuc, John Peacock, Stephen C. Mack, and Michael D. Taylor, University of Toronto, Toronto; Boleslaw Lach, McMaster University, Hamilton, Ontario; Jennifer A. Chan, University of Calgary, Calgary, Alberta; Steffen Albrecht, Adam Fontebasso, and Nada Jabado, McGill University, Montreal, Quebec, Canada; Paul A. Northcott, Andrey Korshunov, Marcel Kool, David T.W. Jones, and Stefan M. Pfister, German Cancer Research Center; Stefan M. Pfister, University Hospital Heidelberg, Heidelberg; Ulrich Schüller, Ludwig-Maximilians-University, Munich; Stefan Rutkowski, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; Karel Zitterbart, Masaryk University School of Medicine; Karel Zitterbart and Leos Kren, University Hospital Brno, Brno, Czech Republic; Toshihiro Kumabe and Teiji Tominaga, Tohoku University Graduate School of Medicine, Sendai, Japan; Young Shin Ra, University of Ulsan, Asan Medical Center; Ji-Yeoun Lee, Byung-Kyu Cho, Seung-Ki Kim, and Kyu-Chang Wang, Seoul National University Children's Hospital, Seoul; Shin Jung, Chonnam National University Research Institute of Medical Sciences, Chonnam National University Hwasun Hospital and Medical School, Chonnam, South Korea; Peter Hauser and Miklós Garami, Semmelweis University, Budapest; László Bognár and Almos Klekner, University of Debrecen, Medical and Health Science Centre, Debrecen, Hungary; Shenandoah Robinson, Boston Children's Hospital; Scott L. Pomeroy, Harvard Medical School, Boston, MA; Ali G. Saad, University of Arkansas for Medical Sciences, Little

Tissue factor expression provokes escape from tumor dormancy and leads to genomic alterations.
Proc Natl Acad Sci U S A 2014 Mar 11;111(9):3544-9. Epub 2014 Feb 11.
Montreal Children's Hospital, Research Institute of McGill University Health Centre, McGill University, Montreal, QC, Canada H3Z 2Z3.

Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition.
Cancer Cell 2014 Mar;25(3):393-405
Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), 69121 Heidelberg, Germany; Department of Pediatric Oncology, Hematology and Immunology, University Hospital Heidelberg, 69120 Heidelberg, Germany.

Paediatric and adult glioblastoma: multiform (epi)genomic culprits emerge.
Nat Rev Cancer 2014 Feb;14(2):92-107
1] Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ) Heidelberg, Im Neuenheimer Feld 580, D-69120 Heidelberg, Germany. [2] Department of Pediatric Oncology, Hematology, and Immunology, Heidelberg University Hospital, Im Neuenheimer Feld 430, D-69120 Heidelberg, Germany.


TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma.
Acta Neuropathol 2013 Dec 31;126(6):917-29. Epub 2013 Oct 31.
The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON, Canada.






Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma.
Nat Genet 2013 Aug 30;45(8):927-32. Epub 2013 Jun 30.
Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.








Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma.
Cancer Cell 2012 Oct;22(4):425-37
Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ) Heidelberg, 69120 Heidelberg, Germany.


Subgroup-specific structural variation across 1,000 medulloblastoma genomes.
Nature 2012 Aug;488(7409):49-56
Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.

Dissecting the genomic complexity underlying medulloblastoma.
Nature 2012 Aug;488(7409):100-5
Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, Heidelberg 69120, Germany.









Preponderance of sonic hedgehog pathway activation characterizes adult medulloblastoma.
Acta Neuropathol 2011 Feb 24;121(2):229-39. Epub 2010 Nov 24.
Department of Radiation Oncology, Montreal General Hospital, McGill University Health Centre, Canada.


Preclinical evaluation of radiation and perifosine in a genetically and histologically accurate model of brainstem glioma.
Cancer Res 2010 Mar 2;70(6):2548-57. Epub 2010 Mar 2.
Departments of Cancer Biology and Genetics, Brain Tumor Center, Memorial Sloan-Kettering Cancer Center, New York, New York 10021, USA.




The whole-genome landscape of medulloblastoma subtypes.
Nature 2017 07;547(7663):311-317
Division of Molecular Genetics, German Cancer Research Center (DKFZ), Heidelberg, Germany.

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