1. A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next‐generation sequencing causes CK syndrome. (21st April 2015) Authors: Preiksaitiene, Egle; Caro, Alfonso; Benušienė, Eglė; Oltra, Silvestre; Orellana, Carmen; Morkūnienė, Aušra; Roselló, Mónica Pilar; Kasnauskiene, Jurate; Monfort, Sandra; Kučinskas, Vaidutis; Mayo, Sonia; Martinez, Francisco Journal: American journal of medical genetics Issue: Volume 167:Number 6(2015:Jun.) Page Start: 1342 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability. (24th May 2017) Authors: Mayo, Sonia; Monfort, Sandra; Roselló, Mónica; Orellana, Carmen; Oltra, Silvestre; Caro-Llopis, Alfonso; Martínez, Francisco Other Names: Salem Mohamed Academic Editor. Journal: International journal of genomics Issue: Volume 2017(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Duplication at Xq13.3–q21.1 with syndromic intellectual disability, a probable role for the ATRX gene. Issue 4 (23rd January 2014) Authors: Martínez, Francisco; Roselló, Mónica; Mayo, Sonia; Monfort, Sandra; Oltra, Silvestre; Orellana, Carmen Journal: American journal of medical genetics Issue: Volume 164:Issue 4(2014.) Page Start: 918 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development. (April 2022) Authors: Marco-Hernández, Ana Victoria; Caro-Llopis, Alfonso; Rubio Sánchez, Pilar; Martínez Martínez, Juan Carlos; Tomás Vila, Miguel; Monfort, Sandra; Martínez, Francisco Journal: Journal of child neurology Issue: Volume 37:Number 5(2022) Page Start: 340 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing. Issue 2 (12th September 2016) Authors: Martínez, Francisco; Caro-Llopis, Alfonso; Roselló, Mónica; Oltra, Silvestre; Mayo, Sonia; Monfort, Sandra; Orellana, Carmen Journal: Journal of medical genetics Issue: Volume 54:Issue 2(2017) Page Start: 87 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients. (27th May 2015) Authors: Mayo, Sonia; Monfort, Sandra; Roselló, Mónica; Oltra, Silvestre; Orellana, Carmen; Martínez, Francisco Other Names: Fichera Marco Academic Editor. Journal: BioMed research international Issue: Volume 2015(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Letter to the Editor: Breastfeeding and COVID-19 Vaccine: Yes We Can. (May 2021) Authors: Mayo, Sonia; Monfort, Sandra Journal: Journal of human lactation Issue: Volume 37:Number 2(2021) Page Start: 275 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome. (9th April 2015) Authors: Orellana, Carmen; Roselló, Mónica; Monfort, Sandra; Mayo, Sonia; Oltra, Silvestre; Martínez, Francisco Journal: American journal of medical genetics Issue: Volume 167:Number 7(2015:Jul.) Page Start: 1614 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. Issue 11 (8th September 2018) Authors: Hemati, Parisa; Revah‐Politi, Anya; Bassan, Haim; Petrovski, Slavé; Bilancia, Colleen G.; Ramsey, Keri; Griffin, Nicole G.; Bier, Louise; Cho, Megan T.; Rosello, Monica; Lynch, Sally Ann; Colombo, Sophie; Weber, Astrid; Haug, Marte; Heinzen, Erin L.; Sands, Tristan T.; Narayanan, Vinodh; Primiano... Journal: American journal of medical genetics Issue: Volume 176:Issue 11(2018) Page Start: 2259 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗