Getting Research into Practice

Understanding polygenic models, their development and the potential application of polygenic scores in healthcare
Chantal Babb de Villiers, Mark Kroese, Sowmiya Moorthie

Journal of Medical Genetics Nov 2020, 57 (11) 725-732; DOI: 10.1136/jmedgenet-2019-106763
Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation
Priyam Jani, Quynh C Nguyen, Konstantinia Almpani, Cyrus Keyvanfar, Rashmi Mishra, Denise Liberton, Pamela Orzechowski, Pamela A Frischmeyer-Guerrerio, Olivier Duverger, Janice S Lee

Journal of Medical Genetics Oct 2020, 57 (10) 699-707; DOI: 10.1136/jmedgenet-2019-106678
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 Aug 2020, 57 (8) 509-518; DOI: 10.1136/jmedgenet-2019-106368
Measuring the impact of genetic knowledge on intentions and attitudes of the community towards expanded preconception carrier screening
Royston Ong, Denise Howting, Alethea Rea, Hayley Christian, Pauline Charman, Caron Molster, Gianina Ravenscroft, Nigel George Laing

Journal of Medical Genetics Nov 2018, 55 (11) 744-752; DOI: 10.1136/jmedgenet-2018-105362
Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry
Alberto Ortiz, Ademola Abiose, Daniel G Bichet, Gustavo Cabrera, Joel Charrow, Dominique P Germain, Robert J Hopkin, Ana Jovanovic, Aleš Linhart, Sonia S Maruti, Michael Mauer, João P Oliveira, Manesh R Patel, Juan Politei, Stephen Waldek, Christoph Wanner, Han-Wook Yoo, David G Warnock

Journal of Medical Genetics Jul 2016, 53 (7) 495-502; DOI: 10.1136/jmedgenet-2015-103486
Evidence of digenic inheritance in Alport syndrome
Maria Antonietta Mencarelli, Laurence Heidet, Helen Storey, Michel van Geel, Bertrand Knebelmann, Chiara Fallerini, Nunzia Miglietti, Maria Fatima Antonucci, Francesco Cetta, John A Sayer, Arthur van den Wijngaard, Shu Yau, Francesca Mari, Mirella Bruttini, Francesca Ariani, Karin Dahan, Bert Smeets, Corinne Antignac, Frances Flinter, Alessandra Renieri

Journal of Medical Genetics Mar 2015, 52 (3) 163-174; DOI: 10.1136/jmedgenet-2014-102822
Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR
D Trujillano, M D Ramos, J González, C Tornador, F Sotillo, G Escaramis, S Ossowski, L Armengol, T Casals, X Estivill

Journal of Medical Genetics Jul 2013, 50 (7) 455-462; DOI: 10.1136/jmedgenet-2013-101602
Potential research participants support the return of raw sequence data
Anna Middleton, Caroline F Wright, Katherine I Morley, Eugene Bragin, Helen V Firth, Matthew E Hurles, Michael Parker

Journal of Medical Genetics Aug 2015, 52 (8) 571-574; DOI: 10.1136/jmedgenet-2015-103119

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Getting Research into Practice