Paediatric Oncology

  • Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy
    Manon Suerink, Tim Ripperger, Ludwine Messiaen, Fred H Menko, Franck Bourdeaut, Chrystelle Colas, Marjolijn Jongmans, Yael Goldberg, Maartje Nielsen, Martine Muleris, Mariëtte van Kouwen, Irene Slavc, Christian Kratz, Hans F Vasen, Laurence Brugiѐres, Eric Legius, Katharina Wimmer
  • Investigation of clinically relevant germline variants detected by next-generation sequencing in patients with childhood cancer: a review of the literature
    Dianne E Sylvester, Yuyan Chen, Robyn V Jamieson, Luciano Dalla-Pozza, Jennifer A Byrne
  • High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome
    Leanne de Kock, Yu Chang Wang, Timothée Revil, Dunarel Badescu, Barbara Rivera, Nelly Sabbaghian, Mona Wu, Evan Weber, Claudio Sandoval, Saskia M J Hopman, Johannes H M Merks, Johanna M van Hagen, Antonia H M Bouts, David A Plager, Aparna Ramasubramanian, Linus Forsmark, Kristine L Doyle, Tonja Toler, Janine Callahan, Charlotte Engelenberg, Dorothée Bouron-Dal Soglio, John R Priest, Jiannis Ragoussis, William D Foulkes
  • Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients
    Maria Currás-Freixes, Lucía Inglada-Pérez, Veronika Mancikova, Cristina Montero-Conde, Rocío Letón, Iñaki Comino-Méndez, María Apellániz-Ruiz, Lara Sánchez-Barroso, Miguel Aguirre Sánchez-Covisa, Victoria Alcázar, Javier Aller, Cristina Álvarez-Escolá, Víctor M Andía-Melero, Sharona Azriel-Mira, María Calatayud-Gutiérrez, José Ángel Díaz, Alberto Díez-Hernández, Cristina Lamas-Oliveira, Mónica Marazuela, Xavier Matias-Guiu, Amparo Meoro-Avilés, Ana Patiño-García, Susana Pedrinaci, Garcilaso Riesco-Eizaguirre, Constantino Sábado-Álvarez, Raquel Sáez-Villaverde, Amaya Sainz de los Terreros, Óscar Sanz Guadarrama, Julia Sastre-Marcos, Bartolomé Scolá-Yurrita, Ángel Segura-Huerta, Maria de la Soledad Serrano-Corredor, María Rosa Villar-Vicente, Cristina Rodríguez-Antona, Esther Korpershoek, Alberto Cascón, Mercedes Robledo
  • Juvenile myelomonocytic leukaemia and Noonan syndrome
    Marion Strullu, Aurélie Caye, Julie Lachenaud, Bruno Cassinat, Steven Gazal, Odile Fenneteau, Nathalie Pouvreau, Sabrina Pereira, Clarisse Baumann, Audrey Contet, Nicolas Sirvent, Françoise Méchinaud, Isabelle Guellec, Dalila Adjaoud, Catherine Paillard, Corinne Alberti, Martin Zenker, Christine Chomienne, Yves Bertrand, André Baruchel, Alain Verloes, Hélène Cavé