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genetic counselling

  • O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum
    Clara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, Frederic Tran Mau-them, Antonio Vitobello, Marcus CY Chan, Jasmine Lee-Fong Fung, Megan Rech, Angela Abicht, Marion Aubert Mucca, Jason Carmichael, Nicolas Chassaing, Robin Clark, Christine Coubes, Anne-Sophie Denommé-Pichon, John Karl de Dios, Eleina England, Benoit Funalot, Marion Gerard, Maries Joseph, Colleen Kennedy, Camille Kumps, Marjolaine Willems, Ingrid M B.H van de Laar, Coranne Aarts-Tesselaar, Marjon van Slegtenhorst, Daphné Lehalle, Kathleen Leppig, Lennart Lessmeier, Lynn S Pais, Heather Paterson, Subhadra Ramanathan, Lance H Rodan, Andrea Superti-Furga, Brian H.Y. Chung, Elliott Sherr, Christian Netzer, Christian P Schaaf, Florian Erger
    Journal of Medical Genetics Jul 2022, 59 (7) 697-705; DOI: 10.1136/jmedgenet-2020-107470
  • Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease
    Jianwen Deng, Binbin Zhou, Jiaxi Yu, Xiaochen Han, Jianhui Fu, Xiaobin Li, Xufang Xie, Min Zhu, Yilei Zheng, Xueyu Guo, Pidong Li, Qingqing Wang, Jing Liu, Wei Zhang, Yun Yuan, Sheng Yao, Zhaoxia Wang, Daojun Hong
    Journal of Medical Genetics May 2022, 59 (5) 462-469; DOI: 10.1136/jmedgenet-2020-107649
  • UK recommendations for SDHA germline genetic testing and surveillance in clinical practice
    Helen Hanson, Miranda Durkie, Fiona Lalloo, Louise Izatt, Terri P McVeigh, Jackie A Cook, Carole Brewer, James Drummond, Samantha Butler, Treena Cranston, Ruth Casey, Tricia Tan, Daniel Morganstein, Diana M Eccles, Marc Tischkowitz, Clare Turnbull, Emma Roisin Woodward, Eamonn R Maher
    Journal of Medical Genetics Mar 2022, jmedgenet-2021-108355; DOI: 10.1136/jmedgenet-2021-108355
  • Genetic burden linked to founder effects in Saguenay–Lac-Saint-Jean illustrates the importance of genetic screening test availability
    Mbarka Bchetnia, Luigi Bouchard, Jean Mathieu, Philippe M Campeau, Charles Morin, Diane Brisson, Anne-Marie Laberge, Hélène Vézina, Daniel Gaudet, Catherine Laprise
    Journal of Medical Genetics Oct 2021, 58 (10) 653-665; DOI: 10.1136/jmedgenet-2021-107809
  • Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists
    Joanna Lazier, Taila Hartley, Jo-Ann Brock, Oana Caluseriu, David Chitayat, Anne-Marie Laberge, Sylvie Langlois, Julie Lauzon, Tanya N Nelson, Jillian Parboosingh, Dimitri J Stavropoulos, Kym Boycott, Christine M Armour
    Journal of Medical Genetics Sep 2021, jmedgenet-2021-107897; DOI: 10.1136/jmedgenet-2021-107897
  • Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap
    Jeanna M McCuaig, Tracy L Stockley, Patricia Shaw, Michael Fung-Kee-Fung, Alon D Altman, James Bentley, Marcus Q Bernardini, Beatrice Cormier, Hal Hirte, Katharina Kieser, Andree MacMillan, Wendy S Meschino, Karen Panabaker, Renee Perrier, Diane Provencher, Kasmintan A Schrader, Kimberly Serfas, Eva Tomiak, Nora Wong, Sean S Young, Walter Henri Gotlieb, Paul Hoskins, Raymond H Kim
    Journal of Medical Genetics Sep 2018, 55 (9) 571-577; DOI: 10.1136/jmedgenet-2018-105472
  • Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
    Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Fabienne Prieur, Laurent Pasquier, Mathilde Lefebvre, Julien Thevenon, Christèle Dubourg, Sophie Julia, Catherine Sarret, Ganaëlle Remerand, Christine Francannet, Fanny Laffargue, Odile Boespflug-Tanguy, Albert David, Bertrand Isidor, Jacqueline Vigneron, Bruno Leheup, Laetitia Lambert, Christophe Philippe, Mylène Béri-Dexheimer, Jean-Marie Cuisset, Joris Andrieux, Ghislaine Plessis, Annick Toutain, Laurent Guibaud, Valérie Cormier-Daire, Marlene Rio, Jean-Paul Bonnefont, Bernard Echenne, Hubert Journel, Lydie Burglen, Sandrine Chantot-Bastaraud, Thierry Bienvenu, Clarisse Baumann, Laurence Perrin, Séverine Drunat, Pierre-Simon Jouk, Klaus Dieterich, Françoise Devillard, Didier Lacombe, Nicole Philip, Sabine Sigaudy, Anne Moncla, Chantal Missirian, Catherine Badens, Nathalie Perreton, Christel Thauvin-Robinet, Réseau AChro-Puce, Jean-Michel Pedespan, Caroline Rooryck, Cyril Goizet, Catherine Vincent-Delorme, Bénédicte Duban-Bedu, Nadia Bahi-Buisson, Alexandra Afenjar, Kim Maincent, Delphine Héron, Jean-Luc Alessandri, Dominique Martin-Coignard, Gaëtan Lesca, Massimiliano Rossi, Martine Raynaud, Patrick Callier, Anne-Laure Mosca-Boidron, Nathalie Marle, Charles Coutton, Véronique Satre, Cédric Le Caignec, Valérie Malan, Serge Romana, Boris Keren, Anne-Claude Tabet, Valérie Kremer, Sophie Scheidecker, Adeline Vigouroux, Marilyn Lackmy-Port-Lis, Damien Sanlaville, Marianne Till, Maryline Carneiro, Brigitte Gilbert-Dussardier, Marjolaine Willems, Hilde Van Esch, Vincent Des Portes, Salima El Chehadeh
    Journal of Medical Genetics Jun 2018, 55 (6) 359-371; DOI: 10.1136/jmedgenet-2017-104956
  • De novo mtDNA point mutations are common and have a low recurrence risk
    Suzanne C E H Sallevelt, Christine E M de Die-Smulders, Alexandra T M Hendrickx, Debby M E I Hellebrekers, Irenaeus F M de Coo, Charlotte L Alston, Charlotte Knowles, Robert W Taylor, Robert McFarland, Hubert J M Smeets
    Journal of Medical Genetics Feb 2017, 54 (2) 73-83; DOI: 10.1136/jmedgenet-2016-103876
  • CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease
    Alicia Semaka, Chris Kay, Crystal Doty, Jennifer A Collins, Emilia K Bijlsma, Fiona Richards, Y Paul Goldberg, Michael R Hayden
    Journal of Medical Genetics Oct 2013, 50 (10) 696-703; DOI: 10.1136/jmedgenet-2013-101796
  • Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
    J M van de Kamp, O T Betsalel, S Mercimek-Mahmutoglu, L Abulhoul, S Grünewald, I Anselm, H Azzouz, D Bratkovic, A de Brouwer, B Hamel, T Kleefstra, H Yntema, J Campistol, M A Vilaseca, D Cheillan, M D’Hooghe, L Diogo, P Garcia, C Valongo, M Fonseca, S Frints, B Wilcken, S von der Haar, H E Meijers-Heijboer, F Hofstede, D Johnson, S G Kant, L Lion-Francois, G Pitelet, N Longo, J A Maat-Kievit, J P Monteiro, A Munnich, A C Muntau, M C Nassogne, H Osaka, K Ounap, J M Pinard, S Quijano-Roy, I Poggenburg, N Poplawski, O Abdul-Rahman, A Ribes, A Arias, J Yaplito-Lee, A Schulze, C E Schwartz, S Schwenger, G Soares, Y Sznajer, V Valayannopoulos, H Van Esch, S Waltz, M M C Wamelink, P J W Pouwels, A Errami, M S van der Knaap, C Jakobs, G M Mancini, G S Salomons
    Journal of Medical Genetics Jul 2013, 50 (7) 463-472; DOI: 10.1136/jmedgenet-2013-101658