Journal of Medical Genetics

Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of ‘gene-negative’ individuals recruited to the 100 000 Genomes Project
Claire L Shovlin, Fatma I Almaghlouth, Ali Alsafi, Nicola Coote, Catherine Rennie, Gillian MF Wallace, Fatima S Govani, Genomics England Research Consortium

Journal of Medical Genetics Aug 2023, jmg-2023-109195; DOI: 10.1136/jmg-2023-109195
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
Nicole Weisschuh, Pascale Mazzola, Theresia Zuleger, Karin Schaeferhoff, Laura Kühlewein, Friederike Kortüm, Dennis Witt, Alexandra Liebmann, Ruth Falb, Lisa Pohl, Milda Reith, Lara G Stühn, Miriam Bertrand, Amelie Müller, Nicolas Casadei, Olga Kelemen, Carina Kelbsch, Christoph Kernstock, Paul Richter, Francoise Sadler, German Demidov, Leon Schütz, Jakob Admard, Marc Sturm, Ute Grasshoff, Felix Tonagel, Tilman Heinrich, Fadi Nasser, Bernd Wissinger, Stephan Ossowski, Susanne Kohl, Olaf Riess, Katarina Stingl, Tobias B Haack

Journal of Medical Genetics Sep 2023, jmg-2023-109470; DOI: 10.1136/jmg-2023-109470
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency
Léa Guerrini-Rousseau, Eric Pasmant, Martine Muleris, Samuel Abbou, Tiphaine Adam-De-Beaumais, Laurence Brugieres, Odile Cabaret, Chrystelle Colas, Sophie Cotteret, Philippe Decq, Christelle Dufour, Erell Guillerm, Etienne Rouleau, Pascale Varlet, Saïma Zili, Dominique Vidaud, Jacques Grill

Journal of Medical Genetics Sep 2023, jmg-2023-109235; DOI: 10.1136/jmg-2023-109235
Evidence of a genetic background predisposing to complex regional pain syndrome type 1
Samiha S Shaikh, Andreas Goebel, Michael C Lee, Michael S Nahorski, Nicholas Shenker, Yunisa Pamela, Ichrak Drissi, Christopher Brown, Gillian Ison, Maliha F Shaikh, Anoop Kuttikat, William A Woods, Abhishek Dixit, Kaitlin Stouffer, Murray CH Clarke, David K Menon, C Geoffrey Woods

Journal of Medical Genetics Sep 2023, jmg-2023-109236; DOI: 10.1136/jmg-2023-109236
Co-design of patient information leaflets for germline predisposition to cancer: recommendations for clinical practice from the UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded CanGene-CanVar Programme and the Association of Genetic Nurse Counsellors (AGNC)
Kelly Kohut, Beverley Speight, Julie Young, Rosalind Way, Jennifer Wiggins, Laura Monje-Garcia, Diana M Eccles, Claire Foster, Lesley Turner, Katie Snape, Helen Hanson, on behalf of the CanGene-CanVar Patient Reference Panel

Journal of Medical Genetics Dec 2023, jmg-2023-109440; DOI: 10.1136/jmg-2023-109440
Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis
Brais Bea-Mascato, Diana Valverde

Journal of Medical Genetics Jan 2024, 61 (1) 18-26; DOI: 10.1136/jmg-2023-109175
Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes
Nathalia de Angelis de Carvalho, Karina Miranda Santiago, Joyce Maria Lisboa Maia, Felipe D’Almeida Costa, Maria Nirvana Formiga, Diogo Cordeiro de Queiroz Soares, Daniele Paixão, Celso Abdon Lopes de Mello, Cecilia Maria Lima da Costa, José Claudio Casali da Rocha, Barbara Rivera, Dirce Maria Carraro, Giovana Tardin Torrezan

Journal of Medical Genetics Jan 2024, 61 (1) 61-68; DOI: 10.1136/jmg-2023-109269
Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer
Sara Fernández-Castillejo, Bàrbara Roig, Mireia Melé, Sara Serrano, Mònica Salvat, Montserrat Querol, Joan Brunet, Marta Pineda, Adela Cisneros, David Parada, Joan Badia, Joan Borràs, Marta Rodríguez-Balada, Josep Gumà

Journal of Medical Genetics Jan 2024, 61 (1) 69-77; DOI: 10.1136/jmg-2023-109389
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy
Claudio Fiorini, Andrea Degiorgi, Maria Lucia Cascavilla, Concetta Valentina Tropeano, Chiara La Morgia, Marco Battista, Danara Ormanbekova, Flavia Palombo, Michele Carbonelli, Francesco Bandello, Valerio Carelli, Alessandra Maresca, Piero Barboni, Enrico Baruffini, Leonardo Caporali

Journal of Medical Genetics Jan 2024, 61 (1) 93-101; DOI: 10.1136/jmg-2023-109340
A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis
Yifat Zivony-Elboum, Wendy Westbroek, Nehama Kfir, David Savitzki, Yishay Shoval, Assnat Bloom, Raya Rod, Morad Khayat, Bella Gross, Walid Samri, Hector Cohen, Vadim Sonkin, Tatiana Freidman, Dan Geiger, Aviva Fattal-Valevski, Yair Anikster, Aoife M Waters, Robert Kleta, Tzipora C Falik-Zaccai

Journal of Medical Genetics Jul 2012, 49 (7) 462-472; DOI: 10.1136/jmedgenet-2012-100742

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