1. Diagnostic value of bone marrow core biopsy patterns in lymphoplasmacytic lymphoma/Waldenström macroglobulinaemia and description of its mutational profiles by targeted NGS. Issue 9 (24th January 2020) Authors: Garcia-Reyero, Julia; Martinez Magunacelaya, Nerea; Gonzalez de Villambrosia, Sonia; Gomez Mediavilla, Angela; Urquieta Lam, Marcela; Insunza, Andres; Tonda, Raul; Beltran, Sergi; Gut, Marta; Gonzalez, Ainara; Montes-Moreno, Santiago Journal: Journal of clinical pathology Issue: Volume 73:Issue 9(2020) Page Start: 571 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families. Issue 10 (24th January 2018) Authors: de Castro-Miró, Marta; Tonda, Raul; Marfany, Gemma; Casaroli-Marano, Ricardo P; Gonzàlez-Duarte, Roser Journal: British journal of ophthalmology Issue: Volume 102:Issue 10(2018) Page Start: 1378 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Runs of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horses. (December 2015) Authors: Metzger, Julia; Karwath, Matthias; Tonda, Raul; Beltran, Sergi; Águeda, Lídia; Gut, Marta; Gut, Ivo; Distl, Ottmar Journal: BMC genomics Issue: Volume 16:Number 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases. Issue 6 (20th May 2022) Authors: Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Corvó, Alberto; Fernández‐Callejo, Marcos; Garcia‐Linares, Carles; Hernandez‐Ferrer, Carles; Luengo, Cristina; Martínez, Inés; Papakonstantinou, Anastasios; Picó‐Amador, Daniel; Protasio, Joan; Thompson, Rachel; Tonda, Raul; Bayés, Mònica; Bullic... Other Names: Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor. Journal: Human mutation Issue: Volume 43:Issue 6(2022) Page Start: 717 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗