Journal of Medical Genetics: 55 (4)

Position statement

Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada (22 March, 2018)
Christine M Armour, Shelley Danielle Dougan, Jo-Ann Brock, Radha Chari, Bernie N Chodirker, Isabelle DeBie, Jane A Evans, William T Gibson, Elena Kolomietz, Tanya N Nelson, Frédérique Tihy, Mary Ann Thomas, Dimitri J Stavropoulos

Review: Genetic tests in lymphatic vascular malformations and lymphedema (22 March, 2018)
Sandro Michelini, Stefano Paolacci, Elena Manara, Costantino Eretta, Raul Mattassi, Byung-Boong Lee, Matteo Bertelli
Original Article: Catalogue of inherited disorders found among the Irish Traveller population (22 March, 2018)
Sally Ann Lynch, Ellen Crushell, Deborah M Lambert, Niall Byrne, Kathleen Gorman, Mary D King, Andrew Green, Siobhan O’Sullivan, Fiona Browne, Joanne Hughes, Ina Knerr, Ahmad A Monavari, Melanie Cotter, Vivienne P M McConnell, Bronwyn Kerr, Simon A Jones, Catriona Keenan, Nuala Murphy, Declan Cody, Sean Ennis, Jackie Turner, Alan D Irvine, Jillian Casey

Original Article: Comprehensive analysis of the MLH1 promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation (22 March, 2018) Free
Monika Morak, Ayseguel Ibisler, Gisela Keller, Ellen Jessen, Andreas Laner, Daniela Gonzales-Fassrainer, Melanie Locher, Trisari Massdorf, Anke M Nissen, Anna Benet-Pagès, Elke Holinski-Feder

Short Report: Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability (22 March, 2018)
Francjan J van Spronsen, Nastassja Himmelreich, Véronique Rüfenacht, Nan Shen, Danique van Vliet, Mohammed Al-Owain, Khushnooda Ramzan, Salwa M Alkhalifi, Roelineke J Lunsing, Rebecca M Heiner-Fokkema, Anahita Rassi, Corinne Gemperle-Britschgi, Georg F Hoffmann, Nenad Blau, Beat Thöny

Original Article: Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome) (22 March, 2018)
Nehir Kurtas, Filippo Arrigoni, Edoardo Errichiello, Claudio Zucca, Cristina Maghini, Maria Grazia D’Angelo, Silvana Beri, Roberto Giorda, Sara Bertuzzo, Massimo Delledonne, Luciano Xumerle, Marzia Rossato, Orsetta Zuffardi, Maria Clara Bonaglia

Original Article: FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta (22 March, 2018)
Mathilde Doyard, Séverine Bacrot, Céline Huber, Maja Di Rocco, Alice Goldenberg, Mona S Aglan, Perrine Brunelle, Samia Temtamy, Caroline Michot, Ghada A Otaify, Coralie Haudry, Mireille Castanet, Julien Leroux, Jean-Paul Bonnefont, Arnold Munnich, Geneviève Baujat, Pablo Lapunzina, Sophie Monnot, Victor L Ruiz-Perez, Valérie Cormier-Daire