germ-line mutation

Congenital mirror movements are associated with defective polymerisation of RAD51
Oriane Trouillard, Pauline Dupaigne, Margaux Dunoyer, Mohamed Doulazmi, Morten Krogh Herlin, Solène Frismand, Audrey Riou, Véronique Legros, Guillaume Chevreux, Xavier Veaute, Didier Busso, Coralie Fouquet, Cécile Saint-Martin, Aurélie Méneret, Alain Trembleau, Isabelle Dusart, Caroline Dubacq, Emmanuel Roze

Journal of Medical Genetics Nov 2023, 60 (11) 1116-1126; DOI: 10.1136/jmg-2023-109189
Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation
D Gareth Evans, George J Burghel, Miriam Jane Smith

Journal of Medical Genetics Sep 2023, 60 (9) 838-841; DOI: 10.1136/jmg-2022-108960
Polymorphic variants involved in methylation regulation: a strategy to discover risk loci for pancreatic ductal adenocarcinoma
Chiara Corradi, Giulia Lencioni, Manuel Gentiluomo, Alessio Felici, Anna Latiano, Gediminas Kiudelis, Casper H J van Eijck, Katalin Marta, Rita T Lawlor, Francesca Tavano, Ugo Boggi, Frederike Dijk, Giulia Martina Cavestro, Roel C H Vermeulen, Thilo Hackert, Maria Chiara Petrone, Faik Güntac Uzunoğlu, Livia Archibugi, Jakob R Izbicki, Luca Morelli, Alessandro Zerbi, Stefano Landi, Hannah Stocker, Renata Talar-Wojnarowska, Gregorio Di Franco, Péter Hegyi, Cosimo Sperti, Silvia Carrara, Gabriele Capurso, Maria Gazouli, Hermann Brenner, Stefania Bunduc, Olivier Busch, Francesco Perri, Martin Oliverius, Péter Jeno Hegyi, Mara Goetz, Pasquale Scognamiglio, Andrea Mambrini, Paolo Giorgio Arcidiacono, Edita Kreivenaite, Juozas Kupcinskas, Tamas Hussein, Stefano Ermini, Anna Caterina Milanetto, Pavel Vodicka, Vytautas Kiudelis, Viktor Hlaváč, Pavel Soucek, George E Theodoropoulos, Daniela Basso, John P Neoptolemos, Mateus Nóbrega Aoki, Raffaele Pezzilli, Claudio Pasquali, Roger Chammas, Sabrina Gloria Giulia Testoni, Beatrice Mohelnikova-Duchonova, Maurizio Lucchesi, Cosmeri Rizzato, Federico Canzian, Daniele Campa

Journal of Medical Genetics Oct 2023, 60 (10) 980-986; DOI: 10.1136/jmg-2022-108910
Germline pathogenic SMARCA4 variants in neuroblastoma
Leora Witkowski, Kim E. Nichols, Marjolijn Jongmans, Nienke van Engelen, Ronald R de Krijger, Jennifer Herrera-Mullar, Lieve Tytgat, Armita Bahrami, Helen Mar Fan, Aimee L Davidson, Thomas Robertson, Michael Anderson, Martin Hasselblatt, Sharon E. Plon, William D Foulkes

Journal of Medical Genetics Oct 2023, 60 (10) 987-992; DOI: 10.1136/jmg-2022-108854
Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study
Chenghai Zhang, Dandan Zhu, Yurong Qu, Min Shi, Jingjiao Ma, Yebo Peng, Bowen Zhu, Houquan Tao, Tonghui Ma, TieYing Hou

Journal of Medical Genetics Aug 2023, 60 (8) 760-768; DOI: 10.1136/jmg-2022-108816
High yield of surveillance in patients diagnosed with constitutional mismatch repair deficiency
Zeinab Ghorbanoghli, Mariëtte van Kouwen, Birgitta Versluys, Delphine Bonnet, Christine Devalck, Julie Tinat, Danuta Januszkiewicz-Lewandowska, Consuelo Calvino Costas, Edouard Cottereau, James C H Hardwick, Katharina Wimmer, Laurence Brugieres, Chrystelle Colas, Hans F A Vasen

Journal of Medical Genetics Jul 2023, 60 (7) 679-684; DOI: 10.1136/jmg-2022-108829
Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing
Na Li, Magnus Zethoven, Simone McInerny, Eliza Healey, Dilanka DeSilva, Lisa Devereux, Rodney J Scott, Paul A James, Ian G Campbell

Journal of Medical Genetics Feb 2023, 60 (2) 112-118; DOI: 10.1136/jmedgenet-2021-108399
Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group
Léa Guerrini-Rousseau, Julien Masliah-Planchon, Sebastian M Waszak, Pia Alhopuro, Patrick R Benusiglio, Franck Bourdeaut, Ines B Brecht, Giada Del Baldo, Sandeep Kumar Dhanda, Maria Luisa Garrè, Corrie E M Gidding, Steffen Hirsch, Pauline Hoarau, Mette Jorgensen, Christian Kratz, Lucie Lafay-Cousin, Angela Mastronuzzi, Lorenza Pastorino, Stefan M Pfister, Christopher Schroeder, Miriam Jane Smith, Pia Vahteristo, Roseline Vibert, Catheline Vilain, Nicolas Waespe, Ingrid M Winship, D Gareth Evans, Laurence Brugieres

Journal of Medical Genetics Nov 2022, 59 (11) 1123-1132; DOI: 10.1136/jmedgenet-2021-108385
MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity
Anum Shafique, Beenish Arif, Mary Lynn Chu, Ellen Moran, Tooba Hussain, Francisca Millan Zamora, Elizabeth Wohler, Nara Sobreira, Christine Klein, Katja Lohmann, Sadaf Naz

Journal of Medical Genetics Apr 2023, 60 (4) 352-358; DOI: 10.1136/jmg-2022-108521
Results from London Regional Clinical Genetics services over a 5-year period on germline TP53 testing in women diagnosed with breast cancer at <30 years
Alice Garrett, Sabrina Talukdar, Louise Izatt, Angela F Brady, Sinead Whyte, Katherine S Josephs, Monisha Shanmugasundaram, Li Shan Guillemot, Dara Vakili, Shevaun Ey, Munaza Ahmed

Journal of Medical Genetics Jun 2022, 59 (6) 554-558; DOI: 10.1136/jmedgenet-2021-107742

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