Journal of Medical Genetics: 58 (3)

Cancer genetics

Original research:
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features
(21 May, 2020)
Cristiane Benincá, Vanessa Zanette, Michele Brischigliaro, Mark Johnson, Aurelio Reyes, Daniel Almeida do Valle, Alan J. Robinson, Andrea Degiorgi, Anna Yeates, Bruno Augusto Telles, Julien Prudent, Enrico Baruffini, Mara Lucia S. F. Santos, Ricardo Lehtonen R. de Souza, Erika Fernandez-Vizarra, Alexander J. Whitworth, Massimo Zeviani
Short report:
Homozygous variants in SYCP2L cause premature ovarian insufficiency
(17 April, 2020)
Wen-Bin He, Chen Tan, Ya-Xin Zhang, Lan-Lan Meng, Fei Gong, Guang-Xiu Lu, Ge Lin, Juan Du, Yue-Qiu Tan

Original research: Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome (19 May, 2020)
Samuel W Baker, Kelly A Duffy, Jennifer Richards-Yutz, Matthew A Deardorff, Jennifer M Kalish, Arupa Ganguly

Original research: Genetic and functional insights into CDA-I prevalence and pathogenesis (9 June, 2020)
Aude-Anais Olijnik, Noémi B A Roy, Caroline Scott, Joseph A Marsh, Jill Brown, Karin Lauschke, Katrine Ask, Nigel Roberts, Damien J Downes, Sanja Brolih, Errin Johnson, Barbara Xella, Melanie Proven, Ria Hipkiss, Kate Ryan, Per Frisk, Johan Mäkk, Eva-Lena Maria Stattin, Nandini Sadasivam, Louisa McIlwaine, Quentin A Hill, Raffaele Renella, Jim R Hughes, Richard J Gibbons, Anja Groth, Peter J McHugh, Douglas R Higgs, Veronica J Buckle, Christian Babbs
Original research:
SETD1B-associated neurodevelopmental disorder
(16 June, 2020) Free
Alexandra Roston, Dan Evans, Harinder Gill, Margaret McKinnon, Bertrand Isidor, Benjamin Cogné, Jill Mwenifumbo, Clara van Karnebeek, Jianghong An, Steven J M Jones, Matthew Farrer, Michelle Demos, Mary Connolly, William T Gibson, CAUSES Study

Original research:
De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features
(19 May, 2020)
Julien Buratti, Lei Ji, Boris Keren, Youngha Lee, Stephanie Booke, Serkan Erdin, Soo Yeon Kim, Timothy Blake Palculict, Vardiella Meiner, Jong Hee Chae, Christopher Geoffrey Woods, Allison Tam, Delphine Héron, Feng Cong, Tamar Harel

Short report: TRAPγ-CDG shows asymmetric glycosylation and an effect on processing of proteins required in higher organisms (24 April, 2020)
Sabine Dittner-Moormann, Charles Marques Lourenco, Janine Reunert, Ryuichi Nishinakamura, Satomi S Tanaka, Claudius Werner, Volker Debus, Klaus-Peter Zimmer, Gabriele Wetzel, Hassan Y Naim, Yoshinao Wada, Stephan Rust, Thorsten Marquardt