Variant reclassification and clinical implications Nicola Walsh, Aislinn Cooper, Adrian Dockery, James J O'Byrne
21 February 2024
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome Anthony M Vandersteen, Ruwan A Weerakkody, David A Parry, Christina Kanonidou, Daniel J Toddie-Moore, Jana Vandrovcova, Rebecca Darlay, Javier Santoyo-Lopez, Alison Meynert, NIHR BioResource, Hanadi Kazkaz, Rodney Grahame, Carole Cummings, Marion Bartlett, Neeti GhaliSee the full list of authors
21 February 2024
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement Didier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, Edward B Cooper, Sofia Douzgou Houge, Sixto García-Miñaúr, Hülya Kayserili, Lidia Larizza, Vanesa Lopez Gonzalez, Leonie A Menke, Donatella Milani, Francesco Saettini, Cathy A Stevens, Lloyd Tooke, Jill A Van der ZeeSee the full list of authors
21 May 2024
Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer Panagiotis Baliakas, Arielle R Munters, Anders Kämpe, Bianca Tesi, Marie-Louise Bondeson, Claes Ladenvall, Daniel Eriksson
19 January 2024
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study Eric L Wallace, Ozlem Goker-Alpan, William R Wilcox, Myrl Holida, John Bernat, Nicola Longo, Aleš Linhart, Derralynn A Hughes, Robert J Hopkin, Camilla Tøndel, Mirjam Langeveld, Pilar Giraldo, Antonio Pisani, Dominique Paul Germain, Ankit MehtaSee the full list of authors
21 May 2024
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey Sophie Allen, Lucy Loong, Alice Garrett, Bethany Torr, Miranda Durkie, James Drummond, Alison Callaway, Rachel Robinson, George J Burghel, Helen Hanson, Joanne Field, Trudi McDevitt, Terri P McVeigh, Tina Bedenham, Christopher BowlesSee the full list of authors
21 March 2024
Reduced penetrance of gene variants causing amyotrophic lateral sclerosis Andrew G L Douglas, Diana Baralle
21 February 2024
Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk Laura Valle, Lior H Katz, Andrew Latchford, Pilar Mur, Victor Moreno, Ian M Frayling, Brandie Heald, Gabriel Capellá
24 October 2023
Mosaic RASopathies concept: different skin lesions, same systemic manifestations? Marie-Anne Morren, Heidi Fodstad, Hilde Brems, Nicola Bedoni, Emmanuella Guenova, Martine Jacot-Guillarmod, Kanetee Busiah, Fabienne Giuliano, Michel Gilliet, Isis Atallah
19 April 2024
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature Marie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon, Joseph C Roney, Jenny Serra-Vinardell, Prashant Sharma, David R Adams, John I Gallin, Steven M Holland, Sergio D Rosenzweig, Jose Barbot, Carla Ciccone, Marjan Huizing, Camilo Toro, William A GahlSee the full list of authors
21 February 2024
Genotypes and phenotypes of DNM1 encephalopathy Jeehyun Kim, Lip-Yuen Teng, Bilal Shaker, Dokyun Na, Hyun Yong Koh, Soon Sung Kwon, Joon Soo Lee, Heung Dong Kim, Hoon-Chul Kang, Se Hee Kim
24 October 2023
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes Tamar Hayman, Talya Millo, Karen Hendler, Itay Chowers, Menachem Gross, Eyal Banin, Dror Sharon
21 February 2024
Carriers of autosomal recessive conditions: are they really ‘unaffected?’ Amber Hames, Sophia Khan, Clara Gilliland, Lucy Goldman, Hillary WH Lo, Kevin Magda, Justine Keathley
21 December 2023
Adaptive nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication Mathilde Filser, Mathias Schwartz, Kevin Merchadou, Abderaouf Hamza, Marie-Charlotte Villy, Antoine Decees, Eléonore Frouin, Elodie Girard, Sandrine M Caputo, Victor Renault, Véronique Becette, Lisa Golmard, Nicolas Servant, Dominique Stoppa-Lyonnet, Olivier DelattreSee the full list of authors
27 November 2023
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals Lottie D. Morison, Milou G.P. Kennis, Dmitrijs Rots, Arianne Bouman, Joost Kummeling, Elizabeth Palmer, Adam P. Vogel, Frederique Liegeois, Amanda Brignell, Siddharth Srivastava, Zoe Frazier, Di Milnes, Himanshu Goel, David J. Amor, Ingrid E. SchefferSee the full list of authors
21 May 2024
Iron and risk of dementia: Mendelian randomisation analysis in UK Biobank Francesco Casanova, Qu Tian, Janice L Atkins, Andrew R Wood, Daniel Williamson, Yong Qian, David Zweibaum, Jun Ding, David Melzer, Luigi Ferrucci, Luke C Pilling
19 April 2024
Next generation of free? Points to consider when navigating sponsored genetic testing Kirsten Bartels, Samantha Afonso, Lindsay Brown, Claudia Carriles, Raymond Kim, Joanna Lazier, Saadet Mercimek-Andrews, Tanya N Nelson, Ian Stedman, Emily Thain, Rachel Vanneste, Lauren Chad
21 March 2024
Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice Melody Grace Redman, Rachel Helen Horton, Helena Carley, Anneke Lucassen
21 March 2024
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
21 December 2023
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews Rivka Birnbaum, Shlomit Ezer, Nava Shaul Lotan, Avital Eilat, Keren Sternlicht, Lilach Benyamini, Orit Reish, Tzipora Falik-Zaccai, Gali Ben-Gad, Raya Rod, Reeval Segel, Katherine Kim, Barabra Burton, Catherine E Keegan, Mallory WagnerSee the full list of authors
21 February 2024