topic

Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features
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

Journal of Medical Genetics Mar 2021, 58 (3) 155-167; DOI: 10.1136/jmedgenet-2020-106861
Homozygous variants in SYCP2L cause premature ovarian insufficiency
Wen-Bin He, Chen Tan, Ya-Xin Zhang, Lan-Lan Meng, Fei Gong, Guang-Xiu Lu, Ge Lin, Juan Du, Yue-Qiu Tan

Journal of Medical Genetics Mar 2021, 58 (3) 168-172; DOI: 10.1136/jmedgenet-2019-106789
SETD1B-associated neurodevelopmental disorder
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

Journal of Medical Genetics Mar 2021, 58 (3) 196-204; DOI: 10.1136/jmedgenet-2019-106756
Surgical decision making in premenopausal BRCA carriers considering risk-reducing early salpingectomy or salpingo-oophorectomy: a qualitative study
Faiza Gaba, Shivam Goyal, Dalya Marks, Dhivya Chandrasekaran, Olivia Evans, Sadiyah Robbani, Charlotte Tyson, Rosa Legood, Ertan Saridogan, W Glenn McCluggage, Helen Hanson, Naveena Singh, D Gareth Evans, Usha Menon, Ranjit Manchanda

Journal of Medical Genetics Feb 2021, jmedgenet-2020-107501; DOI: 10.1136/jmedgenet-2020-107501
Update: variable implementation of the 2018 UKCGG/UKGTN guidelines for breast cancer gene panel tests offered by UK genetics services
Sarah Wedderburn, Stephanie Archer, Marc Tischkowitz, Helen Hanson

Journal of Medical Genetics Feb 2021, jmedgenet-2020-107529; DOI: 10.1136/jmedgenet-2020-107529
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation
Vassilis Ragoussis, Alistair T Pagnamenta, Rebecca L Haines, Edoardo Giacopuzzi, Martin A McClatchey, Julian R Sampson, Mohnish Suri, Alice Gardham, Jan-Maarten Cobben, Deborah Osio, Andrew E Fry, Genomics England Research Consortium, Jenny C Taylor

Journal of Medical Genetics Feb 2021, jmedgenet-2020-107528; DOI: 10.1136/jmedgenet-2020-107528
Targeting lung cancer screening to individuals at greatest risk: the role of genetic factors
Mikey B Lebrett, Emma J Crosbie, Miriam J Smith, Emma R Woodward, D Gareth Evans, Philip A J Crosbie

Journal of Medical Genetics Jan 2021, jmedgenet-2020-107399; DOI: 10.1136/jmedgenet-2020-107399
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders
Eduardo Calpena, Maud Wurmser, Simon J McGowan, Rodrigo Atique, Débora R Bertola, Michael L Cunningham, Jonas A Gustafson, David Johnson, Jenny E V Morton, Maria Rita Passos-Bueno, Andrew T Timberlake, Richard P Lifton, Steven A Wall, Stephen R F Twigg, Pascal Maire, Andrew O M Wilkie

Journal of Medical Genetics Jan 2021, jmedgenet-2020-107459; DOI: 10.1136/jmedgenet-2020-107459
Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease
Albina Nowak, Felix Beuschlein, Visnuka Sivasubramaniam, David Kasper, David G Warnock

Journal of Medical Genetics Jan 2021, jmedgenet-2020-107338; DOI: 10.1136/jmedgenet-2020-107338
UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants
Helen Hanson, Angela F Brady, Gillian Crawford, Rosalind A Eeles, Sarah Gibson, Mette Jorgensen, Louise Izatt, Aslam Sohaib, Marc Tischkowitz, D Gareth Evans

Journal of Medical Genetics Feb 2021, 58 (2) 135-139; DOI: 10.1136/jmedgenet-2020-106876

Main menu

topic

Pages

Log in using your username and password

Main menu

Log in using your username and password

You are here

topic

Pages