Journal of Medical Genetics: 51 (1)

Review

A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance (6 August, 2013)
L van der Tol, B E Smid, B J H M Poorthuis, M Biegstraaten, R H Lekanne Deprez, G E Linthorst, C E M Hollak

Original article: Autism traits in the RASopathies (7 October, 2013) Free
Brigid Adviento, Iris L Corbin, Felicia Widjaja, Guillaume Desachy, Nicole Enrique, Tena Rosser, Susan Risi, Elysa J Marco, Robert L Hendren, Carrie E Bearden, Katherine A Rauen, Lauren A Weiss

Original article: 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder (16 October, 2013)
Julien Thevenon, Patrick Callier, Hélène Poquet, Iben Bache, Bjorn Menten, Valérie Malan, Maria Luigia Cavaliere, Jean-Paul Girod, Christel Thauvin-Robinet, Salima El Chehadeh, Jean-Michel Pinoit, Frederic Huet, Bruno Verges, Jean-Michel Petit, Anne-Laure Mosca-Boidron, Nathalie Marle, Francine Mugneret, Alice Masurel-Paulet, Antonio Novelli, Zeynep Tümer, Bart Loeys, Stanislas Lyonnet, Laurence Faivre

Original article: Somatic point mutations occurring early in development: a monozygotic twin study (11 October, 2013)
Rui Li, Alexandre Montpetit, Marylène Rousseau, Si Yu Margaret Wu, Celia M T Greenwood, Timothy D Spector, Michael Pollak, Constantin Polychronakos, J Brent Richards

Original article:
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
(7 November, 2013)
Anna Lindstrand, Giedre Grigelioniene, Daniel Nilsson, Maria Pettersson, Wolfgang Hofmeister, Britt-Marie Anderlid, Sarina G. Kant, Claudia A L Ruivenkamp, Peter Gustavsson, Helena Valta, Stefan Geiberger, Alexandra Topa, Kristina Lagerstedt-Robinson, Fulya Taylan, Josephine Wincent, Tobias Laurell, Minna Pekkinen, Magnus Nordenskjöld, Outi Mäkitie, Ann Nordgren

Original article: Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis (19 November, 2013)
Frederik J Hes, Dina Ruano, Marry Nieuwenhuis, Carli M Tops, Melanie Schrumpf, Maartje Nielsen, Petra E A Huijts, Juul T Wijnen, Anja Wagner, Encarna B Gómez García, Rolf H Sijmons, Fred H Menko, Tom G W Letteboer, Nicoline Hoogerbrugge, Jan Harryvan, Ellen Kampman, Hans Morreau, Hans F A Vasen, Tom van Wezel

Short report:
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm
(7 November, 2013)
Alexandros Onoufriadis, Amelia Shoemark, Mustafa M Munye, Chela T James, Miriam Schmidts, Mitali Patel, Elisabeth M Rosser, Chiara Bacchelli, Philip L Beales, Peter J Scambler, Stephen L Hart, Jeannette E Danke-Roelse, John J Sloper, Sarah Hull, Claire Hogg, Richard D Emes, Gerard Pals, Anthony T Moore, Eddie M K Chung, UK10K, Hannah M Mitchison
Reporting results from whole-genome and whole-exome sequencing in clinical practice: a proposal for Canada? (27 September, 2013)
Ma'n H Zawati, David Parry, Adrian Thorogood, Minh Thu Nguyen, Kym M Boycott, David Rosenblatt, Bartha Maria Knoppers