1. 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) ↗
2. Severe brain involvement in 5q spinal muscular atrophy type 0. Issue 3 (24th July 2019) Authors: Mendonça, Rodrigo H.; Rocha, Antônio J.; Lozano‐Arango, Andres; Diaz, Astry B.; Castiglioni, Claudia; Silva, André M. S.; Reed, Umbertina C.; Kulikowski, Leslie; Paramonov, Ida; Cuscó, Ivon; Tizzano, Eduardo F.; Zanoteli, Edmar Journal: Annals of neurology Issue: Volume 86:Issue 3(2019) Page Start: 458 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients. Issue 6 (6th April 2021) Authors: Blasco‐Pérez, Laura; Paramonov, Ida; Leno, Jordi; Bernal, Sara; Alias, Laura; Fuentes‐Prior, Pablo; Cuscó, Ivon; Tizzano, Eduardo F. Journal: Human mutation Issue: Volume 42:Issue 6(2021) Page Start: 787 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome. Issue 6 (28th April 2021) Authors: Fernández-Álvarez, Paula; Codina-Sola, Marta; Valenzuela, Irene; Teixidó-Turá, Gisela; Cueto-González, Anna; Paramonov, Ida; Antolín, María; López-Grondona, Fermina; Vendrell, Teresa; Evangelista, Artur; García-Arumí, Elena; Tizzano, Eduardo F Journal: Journal of medical genetics Issue: Volume 59:Issue 6(2022) Page Start: 605 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Reply to "Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0". Issue 5 (3rd October 2019) Authors: Mendonça, Rodrigo H.; Rocha, Antônio J.; Lozano‐Arango, Andres; Diaz, Astry B.; Castiglioni, Claudia; Silva, André M. S.; Reed, Umbertina C.; Kulikowski, Leslie; Paramonov, Ida; Cuscó, Ivon; Tizzano, Eduardo F.; Zanoteli, Edmar Journal: Annals of neurology Issue: Volume 86:Issue 5(2019) Page Start: 803 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. A common structural scaffold in CTD phosphatases that supports distinct catalytic mechanisms. Issue 1 (10th September 2013) Authors: Pons, Tirso; Paramonov, Ida; Boullosa, César; Ibáñez, Kristina; Rojas, Ana M.; Valencia, Alfonso Journal: Proteins Issue: Volume 82:Issue 1(2014) Page Start: 103 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. DNA Hypermethylation in Somatic Cells Correlates with Higher Reprogramming Efficiency123. (24th July 2012) Authors: Barrero, María J.; Berdasco, María; Paramonov, Ida; Bilic, Josipa; Vitaloni, Marianna; Esteller, Manel; Belmonte, Juan Carlos Izpisua Journal: Stem cells Issue: Volume 30:Number 8(2012) Page Start: 1696 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗