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Table of contents

October 2023 - Volume 60 - 10

Journal of Medical Genetics: 60 (10)

Copy-number variation

Genotype-phenotype correlations

Cancer genetics

  • Original research: Detection of pathogenic variants in breast cancer susceptibility genes in bilateral breast cancer (13 April, 2023)
    D Gareth Evans, George J Burghel, Helene Schlecht, Elaine F Harkness, Ashu Gandhi, Sacha J Howell, Anthony Howell, Claire Forde, Fiona Lalloo, William G Newman, Miriam Jane Smith, Emma Roisin Woodward
  • Original research: Polymorphic variants involved in methylation regulation: a strategy to discover risk loci for pancreatic ductal adenocarcinoma (2 May, 2023)
    Chiara Corradi, Giulia Lencioni, Manuel Gentiluomo, Alessio Felici, Anna Latiano, Gediminas Kiudelis, Casper H J van Eijck, Katalin Marta, Rita T Lawlor, Francesca Tavano, Ugo Boggi, Frederike Dijk, Giulia Martina Cavestro, Roel C H Vermeulen, Thilo Hackert, Maria Chiara Petrone, Faik Güntac Uzunoğlu, Livia Archibugi, Jakob R Izbicki, Luca Morelli, Alessandro Zerbi, Stefano Landi, Hannah Stocker, Renata Talar-Wojnarowska, Gregorio Di Franco, Péter Hegyi, Cosimo Sperti, Silvia Carrara, Gabriele Capurso, Maria Gazouli, Hermann Brenner, Stefania Bunduc, Olivier Busch, Francesco Perri, Martin Oliverius, Péter Jeno Hegyi, Mara Goetz, Pasquale Scognamiglio, Andrea Mambrini, Paolo Giorgio Arcidiacono, Edita Kreivenaite, Juozas Kupcinskas, Tamas Hussein, Stefano Ermini, Anna Caterina Milanetto, Pavel Vodicka, Vytautas Kiudelis, Viktor Hlaváč, Pavel Soucek, George E Theodoropoulos, Daniela Basso, John P Neoptolemos, Mateus Nóbrega Aoki, Raffaele Pezzilli, Claudio Pasquali, Roger Chammas, Sabrina Gloria Giulia Testoni, Beatrice Mohelnikova-Duchonova, Maurizio Lucchesi, Cosmeri Rizzato, Federico Canzian, Daniele Campa
  • Short report:
    Germline pathogenic SMARCA4 variants in neuroblastoma
     (22 February, 2023)
    Leora Witkowski, Kim E. Nichols, Marjolijn Jongmans, Nienke van Engelen, Ronald R de Krijger, Jennifer Herrera-Mullar, Lieve Tytgat, Armita Bahrami, Helen Mar Fan, Aimee L Davidson, Thomas Robertson, Michael Anderson, Martin Hasselblatt, Sharon E. Plon, William D Foulkes

Developmental defects

  • Original research:
    Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension
     (20 April, 2023)
    Yline Capri, Theresa Kwon, Olivia Boyer, Lucas Bourmance, Noe Testa, Véronique Baudouin, Ronan Bonnefoy, Anne Couderc, Chakib Meziane, Elisabeth Tournier-Lasserve, Laurence Heidet, Judith Melki
  • Original research:
    ARF1-related disorder: phenotypic and molecular spectrum
     (25 April, 2023)
    Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Patricia Fergelot, Jean Delmas, Boris Keren, Céline Poirsier, Fowzan S Alkuraya, Brahim Tabarki, Eric Bend, Kellie Davis, Martina Bebin, Michelle L Thompson, Emily M Bryant, Matias Wagner, Iris Hannibal, Jerica Lenberg, Martin Krenn, Kristen M Wigby, Jennifer R Friedman, Maria Iascone, Anna Cereda, Térence Miao, Eric LeGuern, Emanuela Argilli, Elliott Sherr, Oana Caluseriu, Timothy Tidwell, Pinar Bayrak-Toydemir, Caroline Hagedorn, Melanie Brugger, Katharina Vill, Francois-Dominique Morneau-Jacob, Wendy Chung, Kathryn N Weaver, Joshua W Owens, Ammar Husami, Bimal P Chaudhari, Brandon S Stone, Katie Burns, Rachel Li, Iris M de Lange, Margaux Biehler, Emmanuelle Ginglinger, Bénédicte Gérard, Rolf W Stottmann, Aurélien Trimouille

Functional genomics

Neurogenetics