Reduced penetrance of gene variants causing amyotrophic lateral sclerosisAndrew G L Douglas, Diana Baralle
16 December 2023
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseasesNicole 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
See the full list of authors21 September 2023
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, , on behalf of the CanGene-CanVar Patient Reference Panel, Caroline Dale
See the full list of authors30 November 2023
Evidence of a genetic background predisposing to complex regional pain syndrome type 1Samiha 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
See the full list of authors10 October 2023
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiencyLéa 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
See the full list of authors29 September 2023
Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancerPanagiotis Baliakas, Arielle R Munters, Anders Kämpe, Bianca Tesi, Marie-Louise Bondeson, Claes Ladenvall, Daniel Eriksson
14 August 2023
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 ProjectClaire L Shovlin, Fatma I Almaghlouth, Ali Alsafi, Nicola Coote, Catherine Rennie, Gillian MF Wallace, Fatima S Govani, Genomics England Research Consortium
16 August 2023
Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypesNathalia 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
3 August 2023
Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysisBrais Bea-Mascato, Diana Valverde
15 June 2023
Recessive MECR pathogenic variants cause an LHON-like optic neuropathyClaudio 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
21 September 2023