@misc{indiciae1c47252f4751, title = {RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.}, author = {Joanna Dom\&\#xe8;nech-Viv\&\#xf3; and H\&\#xe9;l\&\#xe8;ne Tubeuf and Romy L S Mesman and Aurelie Drouet and M\&\#xe9;lanie Girardi and Mar\&\#xed;a Concepci\&\#xf3;n Alonso-Cerezo and Diana Baralle and Nadia Boutry-Kryza and David J Bunyan and Helen J Byers and Sandrine M Caputo and Kathleen B M Claes and Miguel De la Hoya and D Gareth Evans and Laure Fr\&\#xe9;sard and Sophie Krieger and Conxi L\&\#xe1;zaro and M\&\#xe9;lanie Leone and Eva Mach\&\#xe1;\&\#x10d;kov\&\#xe1; and Mireia Men\&\#xe9;ndez and Alejandro Moles-Fern\&\#xe1;ndez and Gemma Montalban and Erin Mundt and Marcy E Richardson and Elke M Van Veen and Jamie Weyandt and Judith Balma\&\#xf1;a and Amanda B Spurdle and Orland Diez and Maaike P G Vreeswijk and Alexandra Martins and Sara Guti\&\#xe9;rrez-Enr\&\#xed;quez}, year = {2026}, doi = {10.1016/j.ajhg.2026.08.001}, url = {https://pubmed.ncbi.nlm.nih.gov/42641601/}, note = {Source identifier: 42641601} }