Journal of Medical Genetics: 52 (11)

Cognitive and behavioural genetics

Original article:
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)
(4 September, 2015)
Santhosh Dhanraj, Sethu Madhava Rao Gunja, Adam P Deveau, Mikael Nissbeck, Boonchai Boonyawat, Andrew J Coombs, Alessandra Renieri, Mafalda Mucciolo, Annabella Marozza, Sabrina Buoni, Lesley Turner, Hongbing Li, Ameer Jarrar, Mathura Sabanayagam, Melanie Kirby, Mary Shago, Dalila Pinto, Jason N Berman, Stephen W Scherer, Anders Virtanen, Yigal Dror
Original article:
Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients
(25 August, 2015)
Shimon Edvardson, Frank Gerhard, Chaim Jalas, Jens Lachmann, Dafna Golan, Ann Saada, Avraham Shaag, Christian Ungermann, Orly Elpeleg

Original article:
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome
(11 August, 2015)
Cori DeSanto, Kristin D'Aco, Gabriel C Araujo, Nora Shannon, DDD Study, Hilary Vernon, April Rahrig, Kristin G Monaghan, Zhiyv Niu, Patrik Vitazka, Jonathan Dodd, Sha Tang, Linda Manwaring, Arelis Martir-Negron, Rhonda E Schnur, Jane Juusola, Audrey Schroeder, Vivian Pan, Katherine L Helbig, Bethany Friedman, Marwan Shinawi

Original article: Genome-wide association meta-analyses to identify common genetic variants associated with hallux valgus in Caucasian and African Americans (2 September, 2015)
Yi-Hsiang Hsu, Youfang Liu, Marian T Hannan, William Maixner, Shad B Smith, Luda Diatchenko, Yvonne M Golightly, Hylton B Menz, Virginia B Kraus, Michael Doherty, AG Wilson, Joanne M Jordan

Original article: Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort (28 August, 2015)
N Lavoine, C Colas, M Muleris, S Bodo, A Duval, N Entz-Werle, F Coulet, O Cabaret, F Andreiuolo, C Charpy, G Sebille, Q Wang, S Lejeune, M P Buisine, D Leroux, G Couillault, G Leverger, J P Fricker, R Guimbaud, M Mathieu-Dramard, G Jedraszak, O Cohen-Hagenauer, L Guerrini-Rousseau, F Bourdeaut, J Grill, O Caron, S Baert-Dusermont, J Tinat, G Bougeard, T Frébourg, L Brugières

Short report:
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid
(17 June, 2015)
Christoph Freyer, Henrik Stranneheim, Karin Naess, Arnaud Mourier, Andrea Felser, Camilla Maffezzini, Nicole Lesko, Helene Bruhn, Martin Engvall, Rolf Wibom, Michela Barbaro, Yvonne Hinze, Måns Magnusson, Robin Andeer, Rolf H Zetterström, Ulrika von Döbeln, Anna Wredenberg, Anna Wedell