| Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome G Vasileiou, S Vergarajauregui, S Endele, B Popp, C Büttner, AB Ekici, ... The American Journal of Human Genetics 102 (3), 468-479, 2018 | 86 | 2018 |
| De novo missense substitutions in the gene encoding CDK8, a regulator of the mediator complex, cause a syndromic developmental disorder E Calpena, A Hervieu, T Kaserer, SMA Swagemakers, JAC Goos, ... The American Journal of Human Genetics 104 (4), 709-720, 2019 | 64 | 2019 |
| Junctophilin-1 is a modifier gene of GDAP1-related Charcot–Marie–Tooth disease D Pla-Martín, E Calpena, V Lupo, C Márquez, E Rivas, R Sivera, T Sevilla, ... Human molecular genetics 24 (1), 213-229, 2015 | 59 | 2015 |
| De novo and inherited loss-of-function variants in TLK2: clinical and genotype-phenotype evaluation of a distinct neurodevelopmental disorder MRF Reijnders, KA Miller, M Alvi, JAC Goos, MM Lees, A De Burca, ... The American Journal of Human Genetics 102 (6), 1195-1203, 2018 | 54 | 2018 |
| SMAD6 variants in craniosynostosis: genotype and phenotype evaluation E Calpena, A Cuellar, K Bala, SMA Swagemakers, N Koelling, ... Genetics in Medicine 22 (9), 1498-1506, 2020 | 52 | 2020 |
| Sh3tc2 deficiency affects neuregulin‐1/ErbB signaling EA Gouttenoire, V Lupo, E Calpena, L Bartesaghi, F Schüpfer, JJ Médard, ... Glia 61 (7), 1041-1051, 2013 | 48 | 2013 |
| De novo variants in the F-box protein FBXO11 in 20 individuals with a variable neurodevelopmental disorder A Gregor, LG Sadleir, R Asadollahi, S Azzarello-Burri, A Battaglia, ... The American Journal of Human Genetics 103 (2), 305-316, 2018 | 47 | 2018 |
| CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration P González-Sánchez, D Pla-Martín, P Martínez-Valero, CB Rueda, ... Scientific reports 7 (1), 42993, 2017 | 44 | 2017 |
| The EGR2 gene is involved in axonal Charcot−Marie−Tooth disease T Sevilla, R Sivera, D Martínez‐Rubio, V Lupo, MJ Chumillas, E Calpena, ... European journal of neurology 22 (12), 1548-1555, 2015 | 43 | 2015 |
| TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development GM van Woerden, M Bos, C de Konink, B Distel, R Avagliano Trezza, ... Human mutation 42 (4), 445-459, 2021 | 36 | 2021 |
| Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal Species E Calpena, F Palau, C Espinos, MI Galindo PLoS One 10 (7), e0134106, 2015 | 35 | 2015 |
| Membrane organization and cell fusion during mating in fission yeast requires multipass membrane protein Prm1 MÁ Curto, MR Sharifmoghadam, E Calpena, N De León, M Hoya, ... Genetics 196 (4), 1059-1076, 2014 | 35 | 2014 |
| A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis JAC Goos, WK Vogel, H Mlcochova, CJ Millard, E Esfandiari, WH Selman, ... Human Molecular Genetics 28 (15), 2501-2513, 2019 | 34 | 2019 |
| De novo SOX6 variants cause a neurodevelopmental syndrome associated with ADHD, craniosynostosis, and osteochondromas D Tolchin, JP Yeager, P Prasad, N Dorrani, AS Russi, JA Martinez-Agosto, ... The American Journal of Human Genetics 106 (6), 830-845, 2020 | 32 | 2020 |
| Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases AT Pagnamenta, C Camps, E Giacopuzzi, JM Taylor, M Hashim, ... Genome medicine 15 (1), 94, 2023 | 25 | 2023 |
| Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis Z Hyder, E Calpena, Y Pei, RS Tooze, H Brittain, SRF Twigg, D Cilliers, ... Genetics in Medicine 23 (12), 2360-2368, 2021 | 23 | 2021 |
| Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome F Tessadori, K Duran, K Knapp, M Fellner, S Smithson, AB Meireles, ... The American Journal of Human Genetics 109 (4), 750-758, 2022 | 22 | 2022 |
| The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch … E Calpena, V López del Amo, M Chakraborty, B Llamusí, R Artero, ... Disease Models & Mechanisms 11 (1), dmm029082, 2018 | 22 | 2018 |
| Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome Y Zhou, N Koelling, AL Fenwick, SJ McGowan, E Calpena, SA Wall, ... Human mutation 39 (10), 1360-1365, 2018 | 20 | 2018 |
| Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency M Tondo, E Calpena, G Arriola, P Sanz, L Martorell, A Ormazabal, ... Molecular Genetics and Metabolism 110 (3), 231-236, 2013 | 19 | 2013 |