| New insights into the generation and role of de novo mutations in health and disease R Acuna-Hidalgo, JA Veltman, A Hoischen Genome biology 17, 1-19, 2016 | 510 | 2016 |
| Post-zygotic point mutations are an underrecognized source of de novo genomic variation R Acuna-Hidalgo, T Bo, MP Kwint, M Van De Vorst, M Pinelli, JA Veltman, ... The American Journal of Human Genetics 97 (1), 67-74, 2015 | 283 | 2015 |
| Ultra-sensitive sequencing identifies high prevalence of clonal hematopoiesis-associated mutations throughout adult life R Acuna-Hidalgo, H Sengul, M Steehouwer, M van de Vorst, ... The American Journal of Human Genetics 101 (1), 50-64, 2017 | 272 | 2017 |
| Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations K Kraft, A Magg, V Heinrich, C Riemenschneider, R Schöpflin, ... Nature cell biology 21 (3), 305-310, 2019 | 141 | 2019 |
| Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway R Acuna-Hidalgo, D Schanze, A Kariminejad, A Nordgren, ... The American Journal of Human Genetics 95 (3), 285-293, 2014 | 140 | 2014 |
| Hi-C identifies complex genomic rearrangements and TAD-shuffling in developmental diseases US Melo, R Schöpflin, R Acuna-Hidalgo, MA Mensah, B Fischer-Zirnsak, ... The American Journal of Human Genetics 106 (6), 872-884, 2020 | 123 | 2020 |
| Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA) A Tylki-Szymańska, R Acuna-Hidalgo, M Krajewska-Walasek, ... Journal of medical genetics 52 (5), 312-316, 2015 | 107 | 2015 |
| Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease G Nicolas, R Acuña‐Hidalgo, MJ Keogh, O Quenez, M Steehouwer, ... Alzheimer's & Dementia 14 (12), 1632-1639, 2018 | 96 | 2018 |
| Rare mutations in SLC12A1 and SLC12A3 protect against hypertension by reducing the activity of renal salt cotransporters R Acuña, L Martínez-de-la-Maza, J Ponce-Coria, N Vazquez, P Ortal-Vite, ... Journal of hypertension 29 (3), 475-483, 2011 | 74 | 2011 |
| The spectrum of DNMT3A variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies W Shen, JM Heeley, CM Carlston, R Acuna‐Hidalgo, WM Nillesen, ... American journal of medical genetics Part A 173 (11), 3022-3028, 2017 | 62 | 2017 |
| Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies R Acuna-Hidalgo, P Deriziotis, M Steehouwer, C Gilissen, SA Graham, ... PLoS genetics 13 (3), e1006683, 2017 | 57 | 2017 |
| A genetics-first approach revealed monogenic disorders in patients with ARM and VACTERL anomalies R Van de Putte, GC Dworschak, E Brosens, HM Reutter, CLM Marcelis, ... Frontiers in pediatrics 8, 310, 2020 | 29 | 2020 |
| Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype AL Bruel, S Bigoni, J Kennedy, M Whiteford, C Buxton, G Parmeggiani, ... Journal of medical genetics 54 (12), 830-835, 2017 | 19 | 2017 |
| Encefalitis límbica paraneoplásica: una entidad de difícil diagnóstico M Ramos-Rivas, G Rojas-Velasco, R Acuña-Hidalgo, OA Márquez-Valero, ... Rev Neurol 48 (6), 311-316, 2009 | 16 | 2009 |
| 3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma K Okonechnikov, A Camgöz, O Chapman, S Wani, DE Park, JM Hübner, ... Nature Communications 14 (1), 2300, 2023 | 10 | 2023 |
| Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations R van de Putte, CHW Wijers, H Reutter, SH Vermeulen, CLM Marcelis, ... Plos one 14 (5), e0217477, 2019 | 5 | 2019 |
| Paraneoplastic limbic encephalitis: A difficult-to-diagnose condition M Ramos-Rivas, G Rojas-Velasco, R Acuña-Hidalgo, OA Márquez-Valero, ... Revista de Neurologia 48 (6), 311-316, 2009 | 2 | 2009 |
| Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A S Jain, M Trinidad, TB Nguyen, K Jones, SD Neto, F Ge, A Glagovsky, ... bioRxiv, 2024 | 1 | 2024 |
| Method and apparatus for classification and/or prioritization of genetic variants DA Neville, R Acuna-hidalgo US Patent App. 17/117,519, 2022 | 1 | 2022 |
| Ultra-sensitive detection of mosaic mutations in blood DNA of healthy individuals provides new insights into age-related clonal hematopoiesis RA Hidalgo, H Sengul, M Steehouwer, M van der Vorst, JA Veltman, ... EUROPEAN JOURNAL OF HUMAN GENETICS 26, 53-53, 2018 | 1 | 2018 |