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. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Issue Volume 47:Issue D1(2019) (22nd November 2018) Authors: Köhler, Sebastian; Carmody, Leigh; Vasilevsky, Nicole; Jacobsen, Julius O B; Danis, Daniel; Gourdine, Jean-Philippe; Gargano, Michael; Harris, Nomi L; Matentzoglu, Nicolas; McMurry, Julie A; Osumi-Sutherland, David; Cipriani, Valentina; Balhoff, James P; Conlin, Tom; Blau, Hannah; Baynam, Ga... Journal: Nucleic acids research Issue: Volume 47:Issue D1(2019) Page Start: D1018 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. From Wet‐Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing. Issue 12 (26th September 2016) Authors: Laurie, Steve; Fernandez‐Callejo, Marcos; Marco‐Sola, Santiago; Trotta, Jean‐Remi; Camps, Jordi; Chacón, Alejandro; Espinosa, Antonio; Gut, Marta; Gut, Ivo; Heath, Simon; Beltran, Sergi Journal: Human mutation Issue: Volume 37:Issue 12(2016) Page Start: 1263 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48). (20th November 2018) Authors: Genis, David; Ortega-Cubero, Sara; San Nicolás, Hector; Corral, Jordi; Gardenyes, Josep; de Jorge, Laura; López, Eva; Campos, Berta; Lorenzo, Elena; Tonda, Raúl; Beltran, Sergi; Negre, Montserrat; Obón, María; Beltran, Brigitte; Fàbregas, Laura; Alemany, Berta; Márquez, Fabián; Ramió-Torrentà, Ll... Journal: Neurology Issue: Volume 91:Number 21(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Identification of protein-damaging mutations in 10 swine taste receptors and 191 appetite-reward genes. (December 2016) Authors: Clop, Alex; Sharaf, Abdoallah; Castelló, Anna; Ramos-Onsins, Sebastián; Cirera, Susanna; Mercadé, Anna; Derdak, Sophia; Beltran, Sergi; Huisman, Abe; Fredholm, Merete; van As, Pieter; Sánchez, Armand Journal: BMC genomics Issue: Volume 17:Number 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder. Issue 10 (23rd June 2019) Authors: Thompson, Rachel; Papakonstantinou Ntalis, Anastasios; Beltran, Sergi; Töpf, Ana; de Paula Estephan, Eduardo; Polavarapu, Kiran; 't Hoen, Peter A. C.; Missier, Paolo; Lochmüller, Hanns Journal: Human mutation Issue: Volume 40:Issue 10(2019) Page Start: 1797 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology. Issue 10 (17th May 2019) Authors: Tort, Frederic; Ugarteburu, Olatz; Texidó, Laura; Gea‐Sorlí, Sabrina; García‐Villoria, Judit; Ferrer‐Cortès, Xènia; Arias, Ángela; Matalonga, Leslie; Gort, Laura; Ferrer, Isidre; Guitart‐Mampel, Mariona; Garrabou, Glòria; Vaz, Frederick M; Pristoupilova, Ana; Rodríguez, María Isabel Esteban; Belt... Journal: Human mutation Issue: Volume 40:Issue 10(2019) Page Start: 1700 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. Issue 2 (26th November 2016) Authors: Matalonga, Leslie; Bravo, Miren; Serra‐Peinado, Carla; García‐Pelegrí, Elisabeth; Ugarteburu, Olatz; Vidal, Silvia; Llambrich, Maria; Quintana, Ester; Fuster‐Jorge, Pedro; Gonzalez‐Bravo, Maria Nieves; Beltran, Sergi; Dopazo, Joaquin; Garcia‐Garcia, Francisco; Foulquier, François; Matthijs, Gert;... Journal: Human mutation Issue: Volume 38:Issue 2(2017) Page Start: 148 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis. (20th January 2018) Authors: Franch-Expósito, Sebastià; Esteban-Jurado, Clara; Garre, Pilar; Quintanilla, Isabel; Duran-Sanchon, Saray; Díaz-Gay, Marcos; Bonjoch, Laia; Cuatrecasas, Miriam; Samper, Esther; Muñoz, Jenifer; Ocaña, Teresa; Carballal, Sabela; López-Cerón, María; Castells, Antoni; Vila-Casadesús, Maria; Derdak, S... Journal: Journal of genetics and genomics Issue: Volume 45:Number 1(2018) Page Start: 41 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness. Issue 7 (28th April 2018) Authors: Owen, David; Töpf, Ana; Preethish‐Kumar, Veeramani; Lorenzoni, Paulo José; Vroling, Bas; Scola, Rosana Herminia; Dias‐Tosta, Elza; Geraldo, Argemiro; Polavarapu, Kiran; Nashi, Saraswati; Cox, Daniel; Evangelista, Teresinha; Dawson, John; Thompson, Rachel; Senderek, Jan; Laurie, Steven; Beltran, S... Journal: American journal of medical genetics Issue: Volume 176:Issue 7(2018) Page Start: 1594 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗