1. Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia. Issue 5 (29th March 2021) Authors: Tarilonte, Maria; Ramos, Patricia; Moya, Jennifer; Fernandez-Sanz, Guilermo; Blanco-Kelly, Fiona; Swafiri, Saoud Tahsin; Villaverde, Cristina; Romero, Raquel; Tamayo, Alejandra; Gener, Blanca; Calvas, Patrick; Ayuso, Carmen; Corton, Marta Journal: Journal of medical genetics Issue: Volume 59:Issue 5(2022) Page Start: 428 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. (16th January 2015) Authors: Crow, Yanick J.; Chase, Diana S.; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M.A.; Gornall, Hannah L.; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel‐Hamid, Mohamed S.; Abdel‐Salam, Ghada M.; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Cath... Journal: American journal of medical genetics Issue: Volume 167:Number 2(2015:Feb.) Page Start: 296 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. PIGN encephalopathy: Characterizing the epileptology. Issue 4 (18th February 2022) Authors: Bayat, Allan; de Valles‐Ibáñez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro‐Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; des Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carl... Journal: Epilepsia Issue: Volume 63:Issue 4(2022) Page Start: 974 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Primrose syndrome: Characterization of the phenotype in 42 patients. Issue 6 (20th April 2020) Authors: Melis, Daniela; Carvalho, Daniel; Barbaro‐Dieber, Tina; Espay, Alberto J.; Gambello, Michael J.; Gener, Blanca; Gerkes, Erica; Hitzert, Marrit M.; Hove, Hanne B.; Jansen, Sandra; Jira, Petr E.; Lachlan, Katherine; Menke, Leonie A.; Narayanan, Vinodh; Ortiz, Damara; Overwater, Eline; Posmyk, Renat... Journal: Clinical genetics Issue: Volume 97:Issue 6(2020) Page Start: 890 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro‐osteogenic paracrine response: TERCELOI clinical trial. Issue 1 (13th January 2021) Authors: Infante, Arantza; Gener, Blanca; Vázquez, Miguel; Olivares, Nerea; Arrieta, Arantza; Grau, Gema; Llano, Isabel; Madero, Luis; Bueno, Ana Maria; Sagastizabal, Belén; Gerovska, Daniela; Araúzo‐Bravo, Marcos J; Astigarraga, Itziar; Rodríguez, Clara I. Journal: Clinical and translational medicine Issue: Volume 11:Issue 1(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Synonymous Mutations in RNASEH2A Create Cryptic Splice Sites Impairing RNase H2 Enzyme Function in Aicardi–Goutières Syndrome. Issue 8 (13th May 2013) Authors: Rice, Gillian I.; Reijns, Martin A.M.; Coffin, Stephanie R.; Forte, Gabriella M.A.; Anderson, Beverley H.; Szynkiewicz, Marcin; Gornall, Hannah; Gent, David; Leitch, Andrea; Botella, Maria P.; Fazzi, Elisa; Gener, Blanca; Lagae, Lieven; Olivieri, Ivana; Orcesi, Simona; Swoboda, Kathryn J.; Perrin... Journal: Human mutation Issue: Volume 34:Issue 8(2013:Aug.) Page Start: 1066 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. The phenotype of Sotos syndrome in adulthood: A review of 44 individuals. Issue 4 (3rd September 2019) Authors: Foster, Alison; Zachariou, Anna; Loveday, Chey; Ashraf, Tazeen; Blair, Edward; Clayton‐Smith, Jill; Dorkins, Huw; Fryer, Alan; Gener, Blanca; Goudie, David; Henderson, Alex; Irving, Melita; Joss, Shelagh; Keeley, Vaughan; Lahiri, Nayana; Lynch, Sally Ann; Mansour, Sahar; McCann, Emma; Morton, Jen... Other Names: Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor. Journal: American journal of medical genetics Issue: Volume 181:Issue 4(2019) Page Start: 502 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. Issue 1 (December 2016) Authors: Calmels, Nadège; Greff, Géraldine; Obringer, Cathy; Kempf, Nadine; Gasnier, Claire; Tarabeux, Julien; Miguet, Marguerite; Baujat, Geneviève; Bessis, Didier; Bretones, Patricia; Cavau, Anne; Digeon, Béatrice; Doco-Fenzy, Martine; Doray, Bérénice; Feillet, François; Gardeazabal, Jesus; Gener, Blanc... Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗