Journal of Medical Genetics: 52 (7)

Clinical guidelines

Position statement: The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists (7 May, 2015)
Kym Boycott, Taila Hartley, Shelin Adam, Francois Bernier, Karen Chong, Bridget A Fernandez, Jan M Friedman, Michael T Geraghty, Stacey Hume, Bartha M Knoppers, Anne-Marie Laberge, Jacek Majewski, Roberto Mendoza-Londono, M Stephen Meyn, Jacques L Michaud, Tanya N Nelson, Julie Richer, Bekim Sadikovic, David L Skidmore, Tracy Stockley, Sherry Taylor, Clara van Karnebeek, Ma'n H Zawati, Julie Lauzon, Christine M Armour

Original article: Pallister-Killian syndrome: a study of 22 British patients (17 April, 2015)
Moira Blyth, Viv Maloney, Sarah Beal, Morag Collinson, Shuwen Huang, John Crolla, I Karen Temple, Diana Baralle

Original article:
A risk prediction algorithm for ovarian cancer incorporating BRCA1, BRCA2, common alleles and other familial effects
(29 May, 2015)
Sarah Jervis, Honglin Song, Andrew Lee, Ed Dicks, Patricia Harrington, Caroline Baynes, Ranjit Manchanda, Douglas F Easton, Ian Jacobs, Paul P D Pharoah, Antonis C Antoniou

Original article: Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type (1 June, 2015)
Ricarda Flöttmann, Johannes Wagner, Karolina Kobus, Cynthia J Curry, Ravi Savarirayan, Gen Nishimura, Natsuo Yasui, Jürgen Spranger, Hilde Van Esch, Michael J Lyons, Barbara R DuPont, Alka Dwivedi, Eva Klopocki, Denise Horn, Stefan Mundlos, Malte Spielmann

Original article: Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration (18 May, 2015)
Eran Pras, Dana Kristal, Nadav Shoshany, Dina Volodarsky, Inna Vulih, Gershon Celniker, Ofer Isakov, Noam Shomron, Elon Pras

Short report: Loss-of-function de novo mutations play an important role in severe human neural tube defects (24 March, 2015) Free
Philippe Lemay, Marie-Claude Guyot, Élizabeth Tremblay, Alexandre Dionne-Laporte, Dan Spiegelman, Édouard Henrion, Ousmane Diallo, Patrizia De Marco, Elisa Merello, Christine Massicotte, Valérie Désilets, Jacques L Michaud, Guy A Rouleau, Valeria Capra, Zoha Kibar
Short report:
Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer
(23 April, 2015)
Adela Castillejo, Eva Hernández-Illán, María Rodriguez-Soler, Lucía Pérez-Carbonell, Cecilia Egoavil, Victor M Barberá, María-Isabel Castillejo, Carla Guarinos, Eduardo Martínez-de-Dueñas, María-Jose Juan, Ana-Beatriz Sánchez-Heras, Zaida García-Casado, Clara Ruiz-Ponte, Alejandro Brea-Fernández, Miriam Juárez, Luis Bujanda, Juan Clofent, Xavier Llor, Montserrat Andreu, Antoni Castells, Angel Carracedo, Cristina Alenda, Artemio Payá, Rodrigo Jover, José-Luis Soto