Journal of Medical Genetics: 56 (5)

Gametes

Review: Genetic diagnosis of subfertility: the impact of meiosis and maternal effects (6 February, 2019)
Alexander Gheldof, Deborah J G Mackay, Ying Cheong, Willem Verpoest

Original article: Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol (28 December, 2018)
Francesco Danilo Tiziano, Rosa Lomastro, Emanuela Abiusi, Maria Barbara Pasanisi, Lorena Di Pietro, Stefania Fiori, Giovanni Baranello, Corrado Angelini, Gianni Sorarù, Alessandra Gaiani, Tiziana Mongini, Liliana Vercelli, Eugenio Mercuri, Gessica Vasco, Marika Pane, Giuseppe Vita, Gianluca Vita, Sonia Messina, Roberta Petillo, Luigia Passamano, Luisa Politano, Angela Campanella, Renato Mantegazza, Lucia Morandi

Original article:
Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases
(25 January, 2019)
Robert D Morgan, George J Burghel, Nicola Flaum, Michael Bulman, Andrew R Clamp, Jurjees Hasan, Claire L Mitchell, Helene Schlecht, Emma R Woodward, Fiona I Lallo, Emma J Crosbie, Richard J Edmondson, Andrew J Wallace, Gordon C Jayson, D Gareth R Evans

Original article:
Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations
(28 February, 2019) Free
Nienke J H van Os, Luciana Chessa, Corry M R Weemaes, Marcel van Deuren, Alice Fiévet, Judith van Gaalen, Nizar Mahlaoui, Nel Roeleveld, Christoph Schrader, Detlev Schindler, Alexander M R Taylor, Bart P C Van de Warrenburg, Thilo Dörk, Michèl A A P Willemsen

Original article:
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)
(28 November, 2018)
Abolfazl Rad, Umut Altunoglu, Rebecca Miller, Reza Maroofian, Kiely N James, Ahmet Okay Çağlayan, Maryam Najafi, Valentina Stanley, Rose-Mary Boustany, Gözde Yeşil, Afsaneh Sahebzamani, Gülhan Ercan-Sencicek, Kolsoum Saeidi, Kaman Wu, Peter Bauer, Zeineb Bakey, Joseph G Gleeson, Natalie Hauser, Murat Gunel, Hulya Kayserili, Miriam Schmidts

Short report: Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood (16 October, 2018)
Adel Shalata, Supanun Lauhasurayotin, Zvi Leibovitz, Hongbing Li, Diane Hebert, Santhosh Dhanraj, Yarin Hadid, Mohammed Mahroum, Jacob Bajar, Sandro Egenburg, Ayala Arad, Mordechai Shohat, Sami Haddad, Hassan Bakry, Houtan Moshiri, Stephen W Scherer, Shay Tzur, Yigal Dror