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Rocío Acuña Hidalgo
Rocío Acuña Hidalgo
Nostos Genomics
Verified email at nostos-genomics.com
Title
Cited by
Cited by
Year
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
4542016
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
2652015
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
2392017
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
1352014
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
1152019
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
1012020
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
942015
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
702018
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
682011
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
542017
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
452017
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
192020
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
192017
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
162009
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
42019
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
22023
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
22009
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
12018
Clinical validation of AION, an artificial intelligence platform for automated variant interpretation, using data from the 100,000 Genomes Project
KI Garikano, A Bertana, E Verdura, M Schelker, J Rayner, I Lehtinen, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 662-663, 2024
2024
Method and apparatus for classification and/or prioritization of genetic variants
DA Neville, R Acuna-hidalgo
US Patent App. 17/117,519, 2022
2022
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