Rare disease genomic testing in the UK and Ireland: promoting timely and equitable accessSian Ellard, Sian Morgan, Sarah L Wynn, Susan Walker, Andrew Parrish, Rachael Mein, Ana Juett, Joo Wook Ahn, Ian Berry, Emma-Jane Cassidy, Miranda Durkie, Louise Fish, Richard Hall, Emma Howard, Julia RankinSee the full list of authors
26 September 2024
A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau diseaseCathy D Vocke, Christopher J Ricketts, Svetlana Pack, Mark Raffeld, Stephen Hewitt, Alexandra P Lebensohn, Lidenys O’Brien, Rabindra Gautam, Krista Reynolds, Laura S Schmidt, Kristin Choo, Alex Kenigsberg, Sandeep Gurram, Emily Y Chew, Naris NilubolSee the full list of authors
24 September 2024
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classificationCharlie F Rowlands, Alice Garrett, Sophie Allen, Miranda Durkie, George J Burghel, Rachel Robinson, Alison Callaway, Joanne Field, Bethan Frugtniet, Sheila Palmer-Smith, Jonathan Grant, Judith Pagan, Trudi McDevitt, Terri P McVeigh, Helen HansonSee the full list of authors
3 September 2024
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvementMridul Johari, Ana Topf, Chiara Folland, Jennifer Duff, Lein Dofash, Pilar Marti, Thomas Robertson, Juan Vilchez, Anita Cairns, Elizabeth Harris, Chiara Marini-Bettolo, Khalid Hundallah, Amal M Alhashem, Mohammed Al-Owain, Reza MaroofianSee the full list of authors
28 August 2024
Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adultsBrian C Kavanaugh, Jennifer Elacio, Carrie R Best, Danielle G St Pierre, Matthew F Pescosolido, Qing Ouyang, John Biedermann, Rebecca S Bradley, Judy S Liu, Richard N Jones, Eric M Morrow
5 September 2024
Protein-truncating and rare missense variants in ATM and CHEK2 and associations with cancer in UK Biobank whole-exome sequence dataToqir K Mukhtar, Naomi Wilcox, Joe Dennis, Xin Yang, Marc Naven, Nasim Mavaddat, John R B Perry, Eugene Gardner, Douglas F Easton
29 August 2024
IFIH1 variants are associated with generalised epilepsy preceded by febrile seizuresWang Song, Wen-Jun Bian, Hua Li, Qing-Hui Guo, Jie Wang, Bin Tang, Jia-Yuan Zhang, Wei Wei, Xiao-Rong Liu, Wei-Ping Liao, Bin Li, Na He
4 July 2024
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspectiveSilvestre Cuinat, Chloé Quélin, Claire Effray, Christèle Dubourg, Gwenaelle Le Bouar, Anne-Sophie Cabaret-Dufour, Philippe Loget, Maia Proisy, Fanny Sauvestre, Mélie Sarreau, Sophie Martin-Berenguer, Claire Beneteau, Sophie Naudion, Vincent Michaud, Benoit ArveilerSee the full list of authors
7 June 2024
Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2D Gareth Evans, George J Burghel, Sacha J Howell, Sarah Pugh, Claire Forde, Anthony Howell, Fiona Lalloo, Emma Roisin Woodward
12 April 2024
Estimating cancer risk in carriers of Lynch syndrome variants in UK BiobankEilidh Fummey, Pau Navarro, John-Paul Plazzer, Ian M Frayling, Sara Knott, Albert Tenesa
14 July 2024
