Molecular genetics

Germline RET variants underlie a subset of paediatric osteosarcoma
Michal Kovac, Connor Woolley, Sebastian Ribi, Claudia Blattmann, Eva Roth, Marco Morini, Monika Kovacova, Baptiste Ameline, Andreas Kulozik, Stefan Bielack, Wolfgang Hartmann, Mandy L Ballinger, David M Thomas, Ian Tomlinson, Michaela Nathrath, Karl Heinimann, Daniel Baumhoer

Journal of Medical Genetics Mar 2020, jmedgenet-2019-106734; DOI: 10.1136/jmedgenet-2019-106734
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network
Alice Garrett, Alison Callaway, Miranda Durkie, Cankut Cubuk, Mary Alikian, George J Burghel, Rachel Robinson, Louise Izatt, Sabrina Talukdar, Lucy Side, Treena Cranston, Sheila Palmer-Smith, Diana Baralle, Ian R Berry, James Drummond, Andrew J Wallace, Gail Norbury, Diana M Eccles, Sian Ellard, Fiona Lalloo, D Gareth Evans, Emma Woodward, Marc Tischkowitz, Helen Hanson, Clare Turnbull

Journal of Medical Genetics Mar 2020, jmedgenet-2019-106759; DOI: 10.1136/jmedgenet-2019-106759
Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility
Guillaume Martinez, Julie Beurois, Denis Dacheux, Caroline Cazin, Marie Bidart, Zine-Eddine Kherraf, Derrick R Robinson, Véronique Satre, Gerald Le Gac, Chandran Ka, Isabelle Gourlaouen, Yann Fichou, Graciane Petre, Emmanuel Dulioust, Raoudha Zouari, Nicolas Thierry-Mieg, Aminata Touré, Christophe Arnoult, Mélanie Bonhivers, Pierre Ray, Charles Coutton

Journal of Medical Genetics Mar 2020, jmedgenet-2019-106775; DOI: 10.1136/jmedgenet-2019-106775
Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia
Claudia Rodríguez-López, Luis M. García-Cárdaba, Alberto Blázquez, Pablo Serrano-Lorenzo, Gerardo Gutiérrez-Gutiérrez, Beatriz San Millán-Tejado, Nuria Muelas, Aurelio Hernández-Laín, Juan J. Vílchez, Eduardo Gutiérrez-Rivas, Joaquín Arenas, Miguel A. Martín, Cristina Domínguez-González

Journal of Medical Genetics Mar 2020, jmedgenet-2019-106649; DOI: 10.1136/jmedgenet-2019-106649
Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation
Alvaro N Monteiro, Peter Bouwman, Arne N Kousholt, Diana M Eccles, Gael A Millot, Jean-Yves Masson, Marjanka K Schmidt, Shyam K Sharan, Ralph Scully, Lisa Wiesmüller, Fergus Couch, Maaike P G Vreeswijk

Journal of Medical Genetics Mar 2020, jmedgenet-2019-106368; DOI: 10.1136/jmedgenet-2019-106368
NEK11 as a candidate high-penetrance melanoma susceptibility gene
Eirini Christodoulou, Remco van Doorn, Mijke Visser, Amina Teunisse, Mieke Versluis, Pieter van der Velden, Nicholas K Hayward, Aart Jochemsen, Nelleke Gruis

Journal of Medical Genetics Mar 2020, 57 (3) 203-210; DOI: 10.1136/jmedgenet-2019-106134
Redefinition of familial intestinal gastric cancer: clinical and genetic perspectives
Joana Carvalho, Patricia Oliveira, Janine Senz, Celina São José, Samantha Hansford, Sara Pinto Teles, Marta Ferreira, Giovanni Corso, Hugo Pinheiro, Diana Lemos, Valeria Pascale, Franco Roviello, David Huntsman, Carla Oliveira

Journal of Medical Genetics Feb 2020, jmedgenet-2019-106346; DOI: 10.1136/jmedgenet-2019-106346
Contribution of de novo and inherited rare CNVs to very preterm birth
Hilary S Wong, Megan Wadon, Alexandra Evans, George Kirov, Neena Modi, Michael C O'Donovan, Anita Thapar

Journal of Medical Genetics Feb 2020, jmedgenet-2019-106619; DOI: 10.1136/jmedgenet-2019-106619
Detecting mosaic variants in patients with somatic overgrowth syndromes using cell-free circulating DNA and deep sequencing
Wei Shen, Josue Flores-Daboub, Dave Viskochil, Sarah L. Dugan, Hunter D. Best, Rong Mao

Journal of Medical Genetics Jan 2020, jmedgenet-2019-106732; DOI: 10.1136/jmedgenet-2019-106732
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis
Alicia B Byrne, Shuji Mizumoto, Peer Arts, Patrick Yap, Jinghua Feng, Andreas W Schreiber, Milena Babic, Sarah L King-Smith, Christopher P Barnett, Lynette Moore, Kazuyuki Sugahara, Hatice Mutlu-Albayrak, Gen Nishimura, Jan E Liebelt, Shuhei Yamada, Ravi Savarirayan, Hamish S Scott

Journal of Medical Genetics Jan 2020, jmedgenet-2019-106700; DOI: 10.1136/jmedgenet-2019-106700

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