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A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease

  • Anne Molitor
  • , Alexandre Lederle
  • , Mirjana Radosavljevic
  • , Vinay Sapuru
  • , Megan E. Zavorka Thomas
  • , Jianying Yang
  • , Mahsa Shirin
  • , Virginie Collin-Bund
  • , Katerina Jerabkova-Roda
  • , Zhichao Miao
  • , Alice Bernard
  • , Véronique Rolli
  • , Pierre Grenot
  • , Carla Noemi Castro
  • , Michelle Rosenzwajg
  • , Elyssa G. Lewis
  • , Richard Person
  • , Uxía Saraiva Esperón-Moldes
  • , Milja Kaare
  • , Pekka T. Nokelainen
    • Nurit Assia Batzir, Gal Zaks Hoffer, Nicodème Paul, Tristan Stemmelen, Lydie Naegely, Antoine Hanauer, Sabrina Bibi-Triki, Sarah Grün, Sophie Jung, Ignacio Busnelli, Kornelia Tripolszki, Ruslan Al-Ali, Natalia Ordonez, Peter Bauer, Eunkyung Song, Kristin Zajo, Santiago Partida-Sanchez, Frank Robledo-Avila, Attila Kumanovics, Yoram Louzoun, Aurélie Hirschler, Angélique Pichot, Ori Toker, Cesar Andrés Muñoz Mejía, Nima Parvaneh, Esther Knapp, Joseph H. Hersh, Heather Kenney, Ottavia M. Delmonte, Luigi D. Notarangelo, Jacky G. Goetz, Samir B. Kahwash, Christine Carapito, Rajinder P.S. Bajwa, Caroline Thomas, Stephan Ehl, Bertrand Isidor, Raphael Carapito, Roshini S. Abraham, Richard K. Hite, Nufar Marcus, Aida Bertoli-Avella, Seiamak Bahram*
*Corresponding author for this work
  • Centre de Recherche en Biomédecine de Strasbourg (CRBS)
  • Université de Strasbourg
  • Hôpital civil
  • Memorial Sloan-Kettering Cancer Center
  • Cornell University
  • Nationwide Children’s Hospital
  • Ligue nationale Contre le Cancer
  • International Bio Island
  • Shanghai Fourth People's Hospital
  • University of Freiburg
  • Sorbonne Université
  • Immunology-Immunopathology-Immunotherapy (i3)
  • University of Louisville
  • OPKO Health, Inc.
  • Quest Diagnostics Company
  • Schneider Childrens Medical Center Israel
  • University Hospital of Strasbourg
  • Centogene AG
  • Mayo Clinic Rochester, MN
  • Bar-Ilan University
  • Institut Pluridisciplinaire Hubert Curien
  • Shaare Zedek Medical Center
  • Hebrew University of Jerusalem
  • Hospital Infantil Napoleón Franco Pareja
  • Tehran University of Medical Sciences
  • National Institutes of Health
  • Service de Cardiologie
  • CHU de Nantes
  • Jeffrey Modell Foundation

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

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Immunology and Microbiology