1. A Deletion Involving CD38 and BST1 Results in a Fusion Transcript in a Patient With Autism and Asthma. Issue 2 (13th March 2014) Authors: Ceroni, Fabiola; Sagar, Angela; Simpson, Nuala H.; Gawthrope, Alex J.T.; Newbury, Dianne F.; Pinto, Dalila; Francis, Sunday M.; Tessman, Dorothy C.; Cook, Edwin H.; Monaco, Anthony P.; Maestrini, Elena; Pagnamenta, Alistair T.; Jacob, Suma Journal: Autism research Issue: Volume 7:Issue 2(2014:Apr.) Page Start: 254 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN). Issue 11 (4th September 2015) Authors: Dhanraj, Santhosh; Gunja, Sethu Madhava Rao; Deveau, Adam P; Nissbeck, Mikael; Boonyawat, Boonchai; Coombs, Andrew J; Renieri, Alessandra; Mucciolo, Mafalda; Marozza, Annabella; Buoni, Sabrina; Turner, Lesley; Li, Hongbing; Jarrar, Ameer; Sabanayagam, Mathura; Kirby, Melanie; Shago, Mary; Pinto, ... Journal: Journal of medical genetics Issue: Volume 52:Issue 11(2015) Page Start: 738 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Characterization of Large Copy Number Variation in Mexican Type 2 Diabetes subjects. Issue 1 (December 2017) Authors: Ascencio-Montiel, Iván; Pinto, Dalila; Parra, Esteban; Valladares-Salgado, Adán; Cruz, Miguel; Scherer, Stephen Journal: Scientific reports Issue: Volume 7:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome. Issue 6 (13th April 2017) Authors: Sagar, Angela; Pinto, Dalila; Najjar, Fedra; Guter, Stephen J.; Macmillan, Carol; Cook, Edwin H. Journal: American journal of medical genetics Issue: Volume 173:Issue 6(2017) Page Start: 1656 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications. Issue 5 (7th December 2016) Authors: Ombrello, Michael J; Arthur, Victoria L; Remmers, Elaine F; Hinks, Anne; Tachmazidou, Ioanna; Grom, Alexei A; Foell, Dirk; Martini, Alberto; Gattorno, Marco; Özen, Seza; Prahalad, Sampath; Zeft, Andrew S; Bohnsack, John F; Ilowite, Norman T; Mellins, Elizabeth D; Russo, Ricardo; Len, Claudio; Hil... Journal: Annals of the rheumatic diseases Issue: Volume 76:Issue 5(2017) Page Start: 906 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Identification of novel genetic causes of Rett syndrome-like phenotypes by whole exome sequencing. Issue 47 (December 2015) Authors: Lopes, Fátima; Barbosa, Mafalda; Temudo, Teresa; de Sá, Joaquim; Dias, Ana Isabel; Oliveira, Guiomar; Cabral, Pedro; Calado, Eulália; Cruz, Isabel Fineza; Soares, Gabriela; Vieira, José Pedro; Venâncio, Maria Margarida; Oliveira, Renata; Jonasson, Inger; Ameur, Adam; Pinto, Dalila; Ulf Gyllensten... Journal: International journal of developmental neuroscience Issue: Issue 47:Part A(2015:Dec.) Page Start: 99 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Identification of novel genetic causes of Rett syndrome-like phenotypes. Issue 3 (6th January 2016) Authors: Lopes, Fátima; Barbosa, Mafalda; Ameur, Adam; Soares, Gabriela; de Sá, Joaquim; Dias, Ana Isabel; Oliveira, Guiomar; Cabral, Pedro; Temudo, Teresa; Calado, Eulália; Cruz, Isabel Fineza; Vieira, José Pedro; Oliveira, Renata; Esteves, Sofia; Sauer, Sascha; Jonasson, Inger; Syvänen, Ann-Christine; G... Journal: Journal of medical genetics Issue: Volume 53:Issue 3(2016) Page Start: 190 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. ISDN2014_0322: REMOVED: Identification of novel genetic causes of Rett syndrome‐like phenotypes by whole exome sequencing. Issue 47 (5th November 2015) Authors: Lopes, Fátima; Barbosa, Mafalda; Temudo, Teresa; de Sá, Joaquim; Dias, Ana Isabel; Oliveira, Guiomar; Cabral, Pedro; Calado, Eulália; Cruz, Isabel Fineza; Soares, Gabriela; Vieira, José Pedro; Venâncio, Maria Margarida; Oliveira, Renata; Jonasson, Inger; Ameur, Adam; Pinto, Dalila; Ulf Gyllensten... Journal: International journal of developmental neuroscience Issue: Issue 47:Part A(2015:Dec.) Page Start: 99 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation. Issue 9 (30th June 2015) Authors: Addis, Laura; Ahn, Joo Wook; Dobson, Richard; Dixit, Abhishek; Ogilvie, Caroline M; Pinto, Dalila; Vaags, Andrea K; Coon, Hilary; Chaste, Pauline; Wilson, Scott; Parr, Jeremy R; Andrieux, Joris; Lenne, Bruno; Tumer, Zeynep; Leuzzi, Vincenzo; Aubell, Kristina; Koillinen, Hannele; Curran, Sarah; Ma... Journal: Human mutation Issue: Volume 36:Issue 9(2015:Sep.) Page Start: 842 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman‐Diamond syndrome12. Issue 5 (9th January 2013) Authors: Dhanraj, Santhosh; Manji, Arif; Pinto, Dalila; Scherer, Stephen W.; Favre, Helen; Loh, Mignon L.; Chetty, Runjan; Wei, Alice C.; Dror, Yigal Journal: Pediatric blood & cancer Issue: Volume 60:Issue 5(2013:May) Page Start: 754 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗