Journal of Medical Genetics: 60 (9)

Cancer genetics

GOLM1: expanding our understanding of melanoma susceptibility
(24 July, 2023)
Ellie J. Maas, Courtney K. Wallingford, Emily DeBortoli, Darren J Smit, Brigid Betz-Stablein, Lauren G Aoude, Mitchell S Stark, Richard A. Sturm, H. Peter Soyer, Aideen M McInerney-Leo
Short report:
Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation
(4 January, 2023)
D Gareth Evans, George J Burghel, Miriam Jane Smith
Original research: Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort (5 April, 2023)
Ulrik Kristoffer Stoltze, Mathis Hildonen, Thomas Van Overeem Hansen, Jon Foss-Skiftesvik, Anna Byrjalsen, Malene Lundsgaard, Laura Pignata, Karen Grønskov, Zeynep Tumer, Kjeld Schmiegelow, Jesper Sune Brok, Karin A W Wadt

Original research: Effect of Migalastat on cArdiac InvOlvement in FabRry DiseAse: MAIORA study (20 January, 2023)
Antonia Camporeale, Francesco Bandera, Maurizio Pieroni, Federico Pieruzzi, Marco Spada, Anna Bersano, Laura Econimo, Chiara Lanzillo, Marta Rubino, Renzo Mignani, Irene Motta, Iacopo Olivotto, Ilaria Tanini, Rea Valaperta, Kelvin Chow, Irene Baroni, Sara Boveri, Francesca Graziani, Silvia Pica, Lara Tondi, Marco Guazzi, Massimo Lombardi

Original research:
Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations
(23 January, 2023)
Che-Yuan Kuo, Ming-Yi Chung, Shih-Jen Chen
Original research: The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum (28 March, 2023)
Maria Francesca Di Feo, Victoria Lillback, Manu Jokela, Meriel McEntagart, Tessa Homfray, Elisa Giorgio, Guido C Casalis Cavalchini, Alfredo Brusco, Maria Iascone, Luigina Spaccini, Patrizia D'Oria, Marco Savarese, Bjarne Udd
Original research:
Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway
(10 March, 2023)
Feng-Yao Wu, Rui-Meng Yang, Hai-Yang Zhang, Ming Zhan, Ping-Hui Tu, Ya Fang, Cao-Xu Zhang, Shi-Yang Song, Mei Dong, Ren-Jie Cui, Xiao-Yu Liu, Liu Yang, Chen-Yan Yan, Feng Sun, Rui-Jia Zhang, Zheng Wang, Jun Liang, Huai-Dong Song, Feng Cheng, Shuang-Xia Zhao

Original research: Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome (14 February, 2023)
Valentina Serpieri, Giulia Mortarini, Hailey Loucks, Tommaso Biagini, Alessia Micalizzi, Ilaria Palmieri, Jennifer C Dempsey, Fulvio D’Abrusco, Concetta Mazzotta, Roberta Battini, Enrico Silvio Bertini, Eugen Boltshauser, Renato Borgatti, Knut Brockmann, Stefano D'Arrigo, Nardo Nardocci, Rita Fischetto, Emanuele Agolini, Antonio Novelli, Alfonso Romano, Romina Romaniello, Franco Stanzial, Sabrina Signorini, Pietro Strisciuglio, Simone Gana, Tommaso Mazza, Dan Doherty, Enza Maria Valente
Original research:
Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2
(22 February, 2023)
Natalia Ogonowski, Hernando Santamaria-Garcia, Sandra Baez, Andrea Lopez, Andrés Laserna, Elkin Garcia-Cifuentes, Paola Ayala-Ramirez, Ignacio Zarante, Fernando Suarez-Obando, Pablo Reyes, Marcelo Kauffman, Nick Cochran, Michael Schulte, Daniel W Sirkis, Salvatore Spina, Jennifer S Yokoyama, Bruce L Miller, Kenneth S Kosik, Diana Matallana, Agustín Ibáñez

Short report:
Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants
(22 February, 2023)
Alexandre Guilhem, Sophie Dupuis-Girod, Olivier Espitia, Sophie Rivière, Julie Seguier, Mallorie Kerjouan, Christian Lavigne, Hélène Maillard, Pascal Magro, Laurent Alric, Dan Lipsker, Antoine Parrot, Vanessa Leguy, Claire Vanlemmens, Laurent Guibaud, Miikka Vikkula, Melanie Eyries, Pierre-Jean Valette, Sophie Giraud

Original research:
PSMD3 gene mutations cause pathological myopia
(22 March, 2023)
Jing Chen, Ping Lian, Xiujuan Zhao, Jun Li, Xiling Yu, Xia Huang, Shida Chen, Lin Lu