| A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency W Jones, B Gong, N Novoradovskaya, D Li, R Kusko, TA Richmond, ... Genome biology 22 (1), 1-38, 2021 | 29 | 2021 |
| Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients J Tenorio, P Alarcón, P Arias, I Dapía, S García-Miñaur, MP Bralo, ... European Journal of Human Genetics 28 (4), 469-479, 2020 | 23 | 2020 |
| Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions B Gong, D Li, R Kusko, N Novoradovskaya, Y Zhang, S Wang, ... Genome biology 22 (1), 1-23, 2021 | 20 | 2021 |
| High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies L Sentchordi-Montané, S Benito-Sanz, M Aza-Carmona, F Díaz-González, ... European Journal of Endocrinology 185 (5), 691-705, 2021 | 16 | 2021 |
| Loss of function BMP4 mutation supports the implication of the BMP/TGF‐β pathway in the etiology of combined pituitary hormone deficiency FJ Rodríguez‐Contreras, M Marbán‐Calzón, E Vallespín, Á Del Pozo, ... American Journal of Medical Genetics Part A 179 (8), 1591-1597, 2019 | 12 | 2019 |
| MRX93 syndrome (BRWD3 gene): five new patients with novel mutations J Tenorio, P Alarcón, P Arias, FJ Ramos, J Campistol, S Climent, ... Clinical genetics 95 (6), 726-731, 2019 | 11 | 2019 |
| Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants L Sentchordi-Montané, S Benito-Sanz, M Aza-Carmona, A Pereda, ... The Journal of Clinical Endocrinology & Metabolism 105 (8), 2654-2666, 2020 | 8 | 2020 |
| Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature SM Siccha, AM Cueto, M Parrón‐Pajares, G González‐Morán, ... American Journal of Medical Genetics Part A 185 (3), 856-865, 2021 | 7 | 2021 |
| Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability M Pacio Miguez, F Santos‐Simarro, S García‐Miñaúr, ... American Journal of Medical Genetics Part A 182 (10), 2222-2225, 2020 | 6 | 2020 |
| Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype F Santos-Simarro, M Pacio, AM Cueto-González, E Mansilla, ... European Journal of Medical Genetics 64 (11), 104338, 2021 | 5 | 2021 |
| Broadening the phenotypic spectrum of EVEN‐PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two … M Pacio‐Miguez, M Parrón‐Pajares, CT Gordon, F Santos‐Simarro, ... American Journal of Medical Genetics Part A, 2022 | 2 | 2022 |
| Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene C Gómez‐González, C Pizarro‐Sánchez, C Rodríguez‐Antolín, ... Annals of human genetics, 2021 | 1 | 2021 |
| Oligogenic inheritance may explain the phenotypic variability and incomplete penetrance of deleterious GLI2 variants in congenital hypopituitarism F Javier Rodriguez-Contreras, P Ros-Perez, F Amalia Garcia de Santiago, ... HORMONE RESEARCH IN PAEDIATRICS 95 (SUPPL 2), 368-369, 2022 | | 2022 |
| Vascular, skeletal and endocrine anomalies in mosaic variegated aneuploidy syndrome 2 caused by biallelic variants in CEP57 M Palomares-Bralo, M Pacio-Miguez, A Maria Cueto-Gonzalez, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 333-333, 2022 | | 2022 |
| Comprehensive analysis of the genetic determinants of proportionate short stature by targeted NGS A Campos-Barros, E Vallespin, KE Heath, A Del Pozo, M Solis, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 176-176, 2022 | | 2022 |
| Implementation and assessment of a rapid Whole Exome Sequencing protocol in paediatric patients admitted to intensive care units or highly complex paediatric units in a … M Pacio Miguez, S Garcia-Minaur, A del Pozo, JJ Menendez Suso, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 359-359, 2022 | | 2022 |
| H3. 3 variants: from cancer to neurodevelopmental disorders F Santos-Simarro, M Pacio-Miguez, A del Pozo, C Jimenez Rodriguez, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 341-342, 2022 | | 2022 |
| Low frequency variants in STAP1 associated with Familial Hypercholesterolemia C Rodriguez Jimenez, J Sanguino, I Garcia-Polo, JM Mostaza, E Sevilla, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 198-198, 2022 | | 2022 |
| Full penetrance of craniofacial midline traits in a large multigenerational family with a nonsense GLI2 variant and highly variable phenotypic expression FJ Rodriguez-Contreras, P Ros-Perez, FA Garcia Santiago, E Vallespin, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 341-341, 2022 | | 2022 |
| Using RNA-Seq as complementary diagnostic tool in congenital heart defects: pilot study in a group of transplanted children A del Pozo, C Rodriguez-Antolin, R Martin-Arenas, A Gonzalez-Rocafort, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 953-954, 2020 | | 2020 |
