Rocío Acuña Hidalgo
Rocío Acuña Hidalgo
Nostos Genomics
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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), 1-19, 2016
1872016
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
1582015
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
772017
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
662014
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
532015
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
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
312019
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
222018
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
162017
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
162017
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
122017
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
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, 2020
32020
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
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
The role of CDH1 regulatory noncoding elements for E-cadherin expression
SJ Celina, MR Ana, Q Aditi, R Acuna-Hidalgo, T Patrick, S Mundlos, ...
MEDICINE 99 (9), 2020
2020
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, 2020
2020
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
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