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
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
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2 Helen Hanson, Anjana Kulkarni, Lucy Loong, Grace Kavanaugh, Bethany Torr, Sophie Allen, Munaza Ahmed, Antonis C Antoniou, Ruth Cleaver, Tabib Dabir, D Gareth Evans, Ellen Golightly, Rosalyn Jewell, Kelly Kohut, Ranjit ManchandaSee the full list of authors
20 April 2023
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG) Melissa T Carter, Myriam Srour, Ping-Yee Billie Au, Daniela Buhas, Sarah Dyack, Alison Eaton, Michal Inbar-Feigenberg, Heather Howley, Anne Kawamura, Suzanne M E Lewis, Elizabeth McCready, Tanya N Nelson, Hilary Vallance
22 May 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
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
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
New insights into CC2D2A-related Joubert syndrome Madeleine Harion, Leila Qebibo, Audrey Riquet, Christelle Rougeot, Alexandra Afenjar, Catherine Garel, Malek Louha, Emmanuelle Lacaze, Frédérique Audic-Gérard, Magali Barth, Patrick Berquin, Dominique Bonneau, Frédéric Bourdain, Tiffany Busa, Estelle ColinSee the full list of authors
22 May 2023
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 BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees Mathias Schwartz, Sabrina Ibadioune, Albain Chansavang, Sophie Vacher, Sandrine M Caputo, Hélène Delhomelle, Jennifer Wong, Khadija Abidallah, Virginie Moncoutier, Véronique Becette, Tatiana Popova, Voreak Suybeng, Antoine De Pauw, Marc-Henri Stern, Chrystelle ColasSee the full list of authors
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
Reduced penetrance of gene variants causing amyotrophic lateral sclerosis Andrew G L Douglas, Diana Baralle
21 February 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
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
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
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
Further characterisation of ARX-related disorders in females due to inherited or de novo variants Mathilde Gras, Solveig Heide, Boris Keren, Stéphanie Valence, Catherine Garel, Sandra Whalen, Anna C Jansen, Kathelijn Keymolen, Katrien Stouffs, Mélanie Jennesson, Céline Poirsier, Gaetan Lesca, Christel Depienne, Caroline Nava, Agnès RastetterSee the full list of authors
19 January 2024
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes Derralynn A Hughes, Daniel G Bichet, Roberto Giugliani, Robert J Hopkin, Eva Krusinska, Kathleen Nicholls, Iacopo Olivotto, Ulla Feldt-Rasmussen, Norio Sakai, Nina Skuban, Gere Sunder-Plassmann, Roser Torra, William R Wilcox
21 June 2023
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