Table of contents

Genotype-phenotype correlations

• Original research: Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes (26 June, 2020)

  Martijn Baas, Elise Bette Burger, Ans MW van den Ouweland, Steven ER Hovius, Annelies de Klein, Christianne A van Nieuwenhoven, Robert Jan H Galjaard
• Original research: Polygenic and multifactorial scores for pancreatic ductal adenocarcinoma risk prediction (26 June, 2020)

  Alice Alessandra Galeotti, Manuel Gentiluomo, Cosmeri Rizzato, Ofure Obazee, John P Neoptolemos, Claudio Pasquali, Michael Nentwich, Giulia Martina Cavestro, Raffaele Pezzilli, William Greenhalf, Bernd Holleczek, Cornelia Schroeder, Ben Schöttker, Audrius Ivanauskas, Laura Ginocchi, Timothy J Key, Péter Hegyi, Livia Archibugi, Erika Darvasi, Daniela Basso, Cosimo Sperti, Maarten F Bijlsma, Orazio Palmieri, Viktor Hlavac, Renata Talar-Wojnarowska, Beatrice Mohelnikova-Duchonova, Thilo Hackert, Yogesh Vashist, Ondrej Strouhal, Hanneke van Laarhoven, Francesca Tavano, Martin Lovecek, Christos Dervenis, Ferenc Izbéki, Andrea Padoan, Ewa Małecka-Panas, Evaristo Maiello, Giuseppe Vanella, Gabriele Capurso, Jakob R Izbicki, George E Theodoropoulos, Krzysztof Jamroziak, Verena Katzke, Rudolf Kaaks, Andrea Mambrini, Ioannis S Papanikolaou, Richárd Szmola, Andrea Szentesi, Juozas Kupcinskas, Simona Bursi, Eithne Costello, Ugo Boggi, Anna Caterina Milanetto, Stefano Landi, Maria Gazouli, Ludmila Vodickova, Pavel Soucek, Domenica Gioffreda, Federica Gemignani, Hermann Brenner, Oliver Strobel, Markus Büchler, Pavel Vodicka, Salvatore Paiella, Federico Canzian, Daniele Campa
• Original research:

  Haploinsufficiency of the NF1 gene is associated with protection against diabetes

  (22 June, 2020)

  Roope A Kallionpää, Sirkku Peltonen, Jussi Leppävirta, Minna Pöyhönen, Kari Auranen, Hannu Järveläinen, Juha Peltonen