| Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 L Castilla-Vallmanya, KK Selmer, C Dimartino, R Rabionet, ... Genetics in Medicine 22 (7), 1215-1226, 2020 | 25 | 2020 |
| Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum R Urreizti, E Lopez-Martin, A Martinez-Monseny, M Pujadas, ... Orphanet journal of rare diseases 15 (1), 1-14, 2020 | 23 | 2020 |
| DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients R Urreizti, K Mayer, GD Evrony, E Said, L Castilla-Vallmanya, NAL Cody, ... European Journal of Human Genetics 28 (1), 64-75, 2020 | 20 | 2020 |
| Neuronal and astrocytic differentiation from Sanfilippo C syndrome iPSCs for disease modeling and drug development N Benetó, M Cozar, L Castilla-Vallmanya, OG Zetterdahl, M Sacultanu, ... Journal of clinical medicine 9 (3), 644, 2020 | 13 | 2020 |
| A de novo FOXP1 truncating mutation in a patient originally diagnosed as C syndrome R Urreizti, S Damanti, C Esteve, H Franco-Valls, L Castilla-Vallmanya, ... Scientific reports 8 (1), 1-6, 2018 | 12 | 2018 |
| The ASXL1 mutation p. Gly646Trpfs* 12 found in a Turkish boy with Bohring‐Opitz Syndrome R Urreizti, S Gürsoy, L Castilla‐Vallmanya, G Cunill, R Rabionet, D Erçal, ... Clinical case reports 6 (8), 1452, 2018 | 7 | 2018 |
| Case report of a child bearing a novel deleterious splicing variant in PIGT S Mason, L Castilla-Vallmanya, C James, PI Andrews, S Balcells, ... Medicine 98 (8), 2019 | 6 | 2019 |
| Extending the phenotypic spectrum of Bohring‐Opitz syndrome: Mild case confirmed by functional studies E Leon, J Diaz, L Castilla‐Vallmanya, D Grinberg, S Balcells, R Urreizti American Journal of Medical Genetics Part A 182 (1), 201-204, 2020 | 5 | 2020 |
| De Novo PORCN and ZIC2 mutations in a highly consanguineous family L Castilla-Vallmanya, S Gürsoy, Ö Giray-Bozkaya, A Prat-Planas, ... International journal of molecular sciences 22 (4), 1549, 2021 | 4 | 2021 |
