Journal of Medical Genetics: 50 (2)

Developmental defects

Original article: Mutation of HERC2 causes developmental delay with Angelman-like features (14 December, 2012)
Gaurav V Harlalka, Emma L Baple, Harold Cross, Simone Kühnle, Monica Cubillos-Rojas, Konstantin Matentzoglu, Michael A Patton, Karin Wagner, Roselyn Coblentz, Debra L Ford, Deborah J G Mackay, Barry A Chioza, Martin Scheffner, Jose Luis Rosa, Andrew H Crosby

Original article: Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS (11 December, 2012) Free
Donna M McDonald-McGinn, Somayyeh Fahiminiya, Timothée Revil, Beata A Nowakowska, Joshua Suhl, Alice Bailey, Elisabeth Mlynarski, David R Lynch, Albert C Yan, Larissa T Bilaniuk, Kathleen E Sullivan, Stephen T Warren, Beverly S Emanuel, Joris R Vermeesch, Elaine H Zackai, Loydie A Jerome-Majewska
Original article: Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families (20 January, 2013)
Geneviève Baujat, Céline Huber, Joyce El Hokayem, Roseline Caumes, Claire Do Ngoc Thanh, Albert David, Anne-Lise Delezoide, Anne Dieux-Coeslier, Brigitte Estournet, Christine Francannet, Honorine Kayirangwa, Florence Lacaille, Muriel Le Bourgeois, Jelena Martinovic, Rémi Salomon, Sabine Sigaudy, Valérie Malan, Arnold Munnich, Martine Le Merrer, Kim Hanh Le Quan Sang, Valérie Cormier-Daire

Short report: Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations (14 December, 2012)
Marianna Ciccolella, Stefania Corti, Michela Catteruccia, Stefania Petrini, Giulia Tozzi, Teresa Rizza, Rosalba Carrozzo, Monica Nizzardo, Andreina Bordoni, Dario Ronchi, Adele D'Amico, Cristiano Rizzo, Giacomo Pietro Comi, Enrico Bertini

Original article: Skewed X-inactivation patterns in ageing healthy and myelodysplastic haematopoiesis determined by a pyrosequencing based transcriptional clonality assay (20 January, 2013)
Maximilian Mossner, Florian Nolte, Gero Hütter, Jana Reins, Marion Klaumünzer, Verena Nowak, Julia Obländer, Katrin Ackermann, Silke Will, Henning Röhl, Uwe Neumann, Martin Neumann, Olaf Hopfer, Claudia D Baldus, Wolf-Karsten Hofmann, Daniel Nowak

Original article: Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy (20 January, 2013)
Simon Edvardson, Shimrit Oz, Fida Aziz Abulhijaa, Flora Barghouthi Taher, Avraham Shaag, Shamir Zenvirt, Nathan Dascal, Orly Elpeleg

Original article: Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success (20 January, 2013)
Suzanne C E H Sallevelt, Joseph C F M Dreesen, Marion Drüsedau, Sabine Spierts, Edith Coonen, Florence H J van Tienen, Ronald J T van Golde, Irineus F M de Coo, Joep P M Geraedts, Christine E M de Die-Smulders, Hubert J M Smeets