Publications

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.
J Exp Med 2015 Jun 25;212(6):939-51. Epub 2015 May 25.
Division of Immunology and The Manton Center for Orphan Disease Research, Department of Pathology, Division of Hematology-Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115 Harvard Stem Cell Institute, Harvard University, Boston, MA 02115

Transformation of a primitive myxoid mesenchymal tumor of infancy to an undifferentiated sarcoma: a first reported case.
J Pediatr Hematol Oncol 2015 Mar;37(2):e118-20
Departments of *Pathology ∥Surgery, CHU Sainte-Justine §Department of Pediatrics, Division of Hematology-Oncology, CHU Ste-Justine †Department of Pathology and Cellular Biology, Université de Montréal ¶Department of Surgery, Hôpital du Sacré-Coeur de Montréal, Montréal, QC, Canada ‡Division of Clinical Pathology, Hôpitaux Universitaires de Genève, Switzerland.

FGF10 Signaling differences between type I pleuropulmonary blastoma and congenital cystic adenomatoid malformation.
Orphanet J Rare Dis 2013 Sep 3;8:130. Epub 2013 Sep 3.
AP-HP, Hôpital Necker-Enfants Malades, service de Pneumologie Pédiatrique, Centre de Référence pour les Maladies Respiratoires Rares de l'Enfant, Paris, France.

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
Am J Hum Genet 2013 Jun 23;92(6):1001-7. Epub 2013 May 23.
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Oncological Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA. Electronic address:


Pediatric ulcerative colitis associated with autoimmune diseases: a distinct form of inflammatory bowel disease?
Inflamm Bowel Dis 2012 Oct 11;18(10):1809-17. Epub 2012 Jan 11.
Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Service de Gastroentérologie pédiatrique, Paris, France.

Congenital hyperinsulinism: current trends in diagnosis and therapy.
Orphanet J Rare Dis 2011 Oct 3;6:63. Epub 2011 Oct 3.
Centre de Référence des Maladies Héréditaires du Métabolisme de l'Enfant et l'Adulte, AP-HP Hôpital Necker-Enfants Malades, Université Paris Descartes, Paris, France.

Coexistence of a choriocarcinoma and a gonadoblastoma in the gonad of a 46,XY female: a single nucleotide polymorphism array analysis.
Pediatr Dev Pathol 2010 Jan-Feb;13(1):66-71
Département de Pathologie et Biologie Cellulaire, Université de Montréal, 2900 Boul, Edouard-Montpetit, Montréal, Québec H3T1J4, Canada.







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