1. VarAFT: a variant annotation and filtration system for human next generation sequencing data. Issue Volume 46:Issue W1(2018) (31st May 2018) Authors: Desvignes, Jean-Pierre; Bartoli, Marc; Delague, Valérie; Krahn, Martin; Miltgen, Morgane; Béroud, Christophe; Salgado, David Journal: Nucleic acids research Issue: Volume 46:Issue W1(2018) Page Start: W545 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia. Issue 8 (9th July 2016) Authors: Miltgen, Morgane; Blanchard, Arnaud; Mathieu, Hélène; Kreisler, Alexandre; Jean‐Pierre‐Desvignes, ; Salgado, David; Roubertie, Agathe; Barre, Laura; Rai, Ghadi; Blanck, Veronique; Frederic, Melissa; Douay, Xavier; Mazzolenni, Ronald; Charpentier, Pierre; Gonzalez, Victoria; Destée, Alain; Béroud,... Journal: Movement disorders Issue: Volume 31:Issue 8(2016) Page Start: 1251 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Piezo1 is required for outflow tract and aortic valve development. (June 2020) Authors: Faucherre, Adèle; Moha ou Maati, Hamid; Nasr, Nathalie; Pinard, Amélie; Theron, Alexis; Odelin, Gaëlle; Desvignes, Jean-Pierre; Salgado, David; Collod-Béroud, Gwenaëlle; Avierinos, Jean-François; Lebon, Guillaume; Zaffran, Stéphane; Jopling, Chris Journal: Journal of molecular and cellular cardiology Issue: Volume 143(2020) Page Start: 51 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Standardisation of pathogenicity classification for somatic alterations in solid tumours and haematologic malignancies. (December 2021) Authors: Koeppel, Florence; Muller, Etienne; Harlé, Alexandre; Guien, Céline; Sujobert, Pierre; Trabelsi Grati, Olfa; Kosmider, Olivier; Miguet, Laurent; Mauvieux, Laurent; Cayre, Anne; Salgado, David; Preudhomme, Claude; Karayan-Tapon, Lucie; Tachon, Gaëlle; Coulet, Florence; Lespagnol, Alexandra; Beroud... Journal: European journal of cancer Issue: Volume 159(2021) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. UMD‐Predictor: A High‐Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution. Issue 5 (22nd February 2016) Authors: Salgado, David; Desvignes, Jean‐Pierre; Rai, Ghadi; Blanchard, Arnaud; Miltgen, Morgane; Pinard, Amélie; Lévy, Nicolas; Collod‐Béroud, Gwenaëlle; Béroud, Christophe Journal: Human mutation Issue: Volume 37:Issue 5(2016) Page Start: 439 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Transportation of Patients in Critical Condition Across an International Border, What is the Impact on Their Odds of Full Recovery and Survival? - Case Study at the U.S.-Mexico Border Region. Issue 1 (1st January 2022) Authors: Salgado, David; Martin, Peter T.; Mudgal, Abhisek; Aldrete, Rafael M.; Samant, Swapnil S.; Rodriguez, Gustavo J. Journal: Journal of borderlands studies Issue: Volume 37:Issue 1(2022) Page Start: 77 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis. Issue 5 (11th May 2017) Authors: Juge, Pierre-Antoine; Borie, Raphaël; Kannengiesser, Caroline; Gazal, Steven; Revy, Patrick; Wemeau-Stervinou, Lidwine; Debray, Marie-Pierre; Ottaviani, Sébastien; Marchand-Adam, Sylvain; Nathan, Nadia; Thabut, Gabriel; Richez, Christophe; Nunes, Hilario; Callebaut, Isabelle; Justet, Aurélien; Le... Journal: European respiratory journal Issue: Volume 49:Issue 5(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era. Issue 12 (26th September 2016) Authors: Salgado, David; Bellgard, Matthew I.; Desvignes, Jean‐Pierre; Béroud, Christophe Journal: Human mutation Issue: Volume 37:Issue 12(2016) Page Start: 1272 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Actionable Genes, Core Databases, and Locus‐Specific Databases. Issue 12 (26th September 2016) Authors: Pinard, Amélie; Miltgen, Morgane; Blanchard, Arnaud; Mathieu, Hélène; Desvignes, Jean‐Pierre; Salgado, David; Fabre, Aurélie; Arnaud, Pauline; Barré, Laura; Krahn, Martin; Grandval, Philippe; Olschwang, Sylviane; Zaffran, Stéphane; Boileau, Catherine; Béroud, Christophe; Collod‐Béroud, Gwenaëlle Journal: Human mutation Issue: Volume 37:Issue 12(2016) Page Start: 1299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗