Publications

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:


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:

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.


Somatic GPR101 Duplication Causing X-Linked Acrogigantism (XLAG)-Diagnosis and Management.
J Clin Endocrinol Metab 2016 May 16;101(5):1927-30. Epub 2016 Mar 16.
Pediatrics and Child Health (C.R.), University of Manitoba, Winnipeg MB R3E 0Z2, Canada; Department of Pediatrics (M.M.), Centre mère-enfant Soleil, Centre Hospitalier de l'Université de Quebec, QC G1V 4G2, Canada; Endocrinology (D.I., C.E.S., S.B., J.E., M.K.), Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, United Kingdom; Department of Pathology (S.A.), McGill University, Montreal QC H4A 2J1, Canada; Molecular Genetics (R.C., B.B., S.E.), University of Exeter, Exeter EX4 4SB, United Kingdom; Institute of Medical Genetics (S.J., J.S.), School of Medicine, Cardiff University, Cardiff CF10 3XQ, United Kingdom; Centre de Pathologie Est (J.T.), Hospices Civils de Lyon, University of Lyon, 69622 Lyon, France; and Neuropathology (F.R.), University of Manchester, Manchester M13 9PL, United Kingdom.


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:

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.


No small surprise - small cell carcinoma of the ovary, hypercalcaemic type, is a malignant rhabdoid tumour.
J Pathol 2014 Jul 20;233(3):209-14. Epub 2014 May 20.
Department of Medical Genetics, Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, McGill University, Montreal, QC, Canada; Department of Human Genetics, McGill University, Montreal, QC, Canada; Department of Medical Genetics, Research Institute, McGill University Health Centre, Montreal, QC, Canada.


Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
Nat Genet 2014 May 23;46(5):438-43. Epub 2014 Mar 23.
1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Medical Genetics, Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, McGill University, Montreal, Quebec, Canada. [3] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [4] Department of Medical Genetics, Research Institute, McGill University Health Centre, Montreal, Quebec, Canada.


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


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.

Expression and activation of caspase-6 in human fetal and adult tissues.
PLoS One 2013 12;8(11):e79313. Epub 2013 Nov 12.
Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada ; The Bloomfield Center for Research in Aging, Lady Davis Institute for Medical Research, Sir Mortimer B. Davis Jewish General Hospital, Montreal, Quebec, Canada.





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.




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.


Mortality and pathological findings in C (Opitz trigonocephaly) syndrome.
Fetal Pediatr Pathol 2006 Jul-Aug;25(4):211-31
Pediatrics (Medical Genetics), Pathology, Obstetrics & Gynecology, and Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA.


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