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
Variant reclassification and clinical implications Nicola Walsh, Aislinn Cooper, Adrian Dockery, James J O'Byrne
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
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
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
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
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
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
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
Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE strategy with UK clinical genetics practitioners Alison C Kay, Jonathan Wells, Nina Hallowell, Anne Goriely
21 August 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
Axenfeld-Rieger syndrome: more than meets the eye Linda M. Reis, Mohit Maheshwari, Jenina Capasso, Huban Atilla, Lubica Dudakova, Samuel Thompson, Lia Zitano, Guillermo Lay-Son, R. Brian Lowry, Jennifer Black, Joseph Lee, Ann Shue, Radka Kremlikova Pourova, Manuela Vaneckova, Pavlina SkalickaSee the full list of authors
20 March 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
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
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
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
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders Kevin Riquin, Bertrand Isidor, Sandra Mercier, Mathilde Nizon, Estelle Colin, Dominique Bonneau, Laurent Pasquier, Sylvie Odent, Xavier Maximin Le Guillou Horn, Gwenaël Le Guyader, Annick Toutain, Vincent Meyer, Jean-François Deleuze, Olivier Pichon, Martine Doco-FenzySee the full list of authors
21 December 2023
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases Lili Liang, Shiying Ling, Yue Yu, Ruixue Shuai, Wenjuan Qiu, Huiwen Zhang, Linghua Shen, Shengnan Wu, Haiyan Wei, Yongxing Chen, Chiju Yang, Peng Xu, Xigui Chen, Hui Zou, Jizhen FengSee the full list of authors
21 December 2023
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations Katalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert, David Geneviève, Flavien Rouxel, Denis Morin, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Wesley G Patterson, Raymond Louie, Filippo Pinto e Vairo, Eric Klee, Charu Kaiwar, Ralitza H Gavrilova, Katherine E AgreSee the full list of authors
19 January 2024