Epidemiology

Multigene testing of moderate-risk genes: be mindful of the missense
E L Young, B J Feng, A W Stark, F Damiola, G Durand, N Forey, T C Francy, A Gammon, W K Kohlmann, K A Kaphingst, S McKay-Chopin, T Nguyen-Dumont, J Oliver, A M Paquette, M Pertesi, N Robinot, J S Rosenthal, M Vallee, C Voegele, J L Hopper, M C Southey, I L Andrulis, E M John, M Hashibe, J Gertz, Breast Cancer Family Registry, F Le Calvez-Kelm, F Lesueur, D E Goldgar, S V Tavtigian

Journal of Medical Genetics Jun 2016, 53 (6) 366-376; DOI: 10.1136/jmedgenet-2015-103398
Melanoma genetics
Jazlyn Read, Karin A W Wadt, Nicholas K Hayward

Journal of Medical Genetics Jan 2016, 53 (1) 1-14; DOI: 10.1136/jmedgenet-2015-103150
A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance
L van der Tol, B E Smid, B J H M Poorthuis, M Biegstraaten, R H Lekanne Deprez, G E Linthorst, C E M Hollak

Journal of Medical Genetics Jan 2014, 51 (1) 1-9; DOI: 10.1136/jmedgenet-2013-101857
Defective NDUFA9 as a novel cause of neonatally fatal complex I disease
B J C van den Bosch, M Gerards, W Sluiter, A P A Stegmann, E L C Jongen, D M E I Hellebrekers, R Oegema, E H Lambrichs, H Prokisch, K Danhauser, K Schoonderwoerd, I F M de Coo, H J M Smeets

Journal of Medical Genetics Jan 2012, 49 (1) 10-15; DOI: 10.1136/jmedgenet-2011-100466
Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening
A Smith, A Moran, M C Boyd, M Bulman, A Shenton, L Smith, R Iddenden, E R Woodward, F Lalloo, E R Maher, D G R Evans

Journal of Medical Genetics Jan 2007, 44 (1) 10-15; DOI: 10.1136/jmg.2006.043091
De novo recurrent germline mutation of theBRCA2 gene in a patient with early onset breast cancer
Rob B van der Luijt, Patrick H A van Zon, Rumó P M Jansen, Carla J M van der Sijs-Bos, Carla C Wárlám-Rodenhuis, Margreet G E M Ausems

Journal of Medical Genetics Feb 2001, 38 (2) 102-105; DOI: 10.1136/jmg.38.2.102
Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements
B I Dimitrov, T de Ravel, J Van Driessche, C de Die-Smulders, A Toutain, J R Vermeesch, J P Fryns, K Devriendt, P Debeer

Journal of Medical Genetics Feb 2010, 47 (2) 103-111; DOI: 10.1136/jmg.2008.065888
Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations
Marianna Ciccolella, Stefania Corti, Michela Catteruccia, Stefania Petrini, Giulia Tozzi, Teresa Rizza, Rosalba Carrozzo, Monica Nizzardo, Andreina Bordoni, Dario Ronchi, Adele D'Amico, Cristiano Rizzo, Giacomo Pietro Comi, Enrico Bertini

Journal of Medical Genetics Feb 2013, 50 (2) 104-107; DOI: 10.1136/jmedgenet-2012-101204
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
Edgar A Otto, Gokul Ramaswami, Sabine Janssen, Moumita Chaki, Susan J Allen, Weibin Zhou, Rannar Airik, Toby W Hurd, Amiya K Ghosh, Matthias T Wolf, Bernd Hoppe, Thomas J Neuhaus, Detlef Bockenhauer, David V Milford, Neveen A Soliman, Corinne Antignac, Sophie Saunier, Colin A Johnson, Friedhelm Hildebrandt, the GPN Study Group

Journal of Medical Genetics Feb 2011, 48 (2) 105-116; DOI: 10.1136/jmg.2010.082552
Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer
Jacques Simard, Martine Dumont, Anne-Marie Moisan, Valérie Gaborieau, Hélène Vézina, Francine Durocher, Jocelyne Chiquette, Marie Plante, Denise Avard, Paul Bessette, Claire Brousseau, Michel Dorval, Béatrice Godard, Louis Houde, Yann Joly, Marie-Andrée Lajoie, Gilles Leblanc, Jean Lépine, Bernard Lespérance, Hélène Malouin, Jillian Parboosingh, Roxane Pichette, Louise Provencher, Josée Rhéaume, Daniel Sinnett, Carolle Samson, Jean-Claude Simard, Martine Tranchant, Patricia Voyer, Douglas Easton, Sean V Tavtigian, Bartha-Maria Knoppers, Rachel Laframboise, Peter Bridge, David Goldgar

Journal of Medical Genetics Feb 2007, 44 (2) 107-121; DOI: 10.1136/jmg.2006.044388

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