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), 241, 2016
1622016
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
1412015
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
642014
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
622017
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 Vázquez, P Ortal-Vite, ...
Journal of hypertension 29 (3), 475-483, 2011
502011
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
472015
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
232019
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
162018
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
152017
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
132017
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
112009
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
102017
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), 2019
32019
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
GENE-15. TARGETING OF EPENDYMOMA AS INFORMED BY ONCOGENIC 3D GENOME ORGANIZATION
K Okonechnikov, JM Hübner, O Chapman, A Chakraborty, R Bump, ...
Neuro-Oncology 21 (Supplement_6), vi100-vi100, 2019
2019
CDH1 intronic Cis-Regulatory Elements control CDH1 gene tissue-specific expression
C Sao Jose, A Ferro, P Oliveira, J Carvalho, H Pinheiro, D Huntsman, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1609-1610, 2019
2019
CRISPR-engineered serial genomic inversions lead to tissue-specific architectural stripes, ectopic gene expression and congenital limb malformations
K Kraft, A Magg, V Heinrich, C Riemenschneider, R Schoepflin, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1080-1080, 2019
2019
Assessing and challenging the somatic variant hypothesis in sporadic Alzheimer disease
G Nicolas, R Acuna-Hidalgo, MJ Keogh, O Quenez, M Steehouwer, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 27, 250-251, 2019
2019
Timing of de novo mutations-relevance to health and disease
R Acuna Hidalgo
[Sl: sn], 2017
2017
Rare coding variants and the risk of congenital anorectal malformations: an exome chip association study
CHW Wijers, H Reutter, J Goeman, SH Vermeulen, CLM Marcelis, ...
Etiology of congenital anorectal malformations: Genetic and non-genetic risk …, 0
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