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
2842016
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
1972015
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
1382017
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
892014
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
672015
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
602019
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
572011
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
422018
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
372020
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
312017
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
222017
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
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
122009
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
62020
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
52019
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
CDH1 regulatory noncoding elements: a hidden master for tissue-specific E-cadherin expression
C Sao Jose, AR Monteiro, A Andre, A Qamra, R Acuna-Hidalgo, P Tan, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 73-74, 2020
2020
Germline chromothripsis: Integration of Hi-C and long-read sequencing reveals the structure of highly rear-ranged chromosomes
R Schopflin, US Melo, D Heller, J Jungnitsch, M Klever, M Holtgrewe, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 566-567, 2020
2020
Oncogenic 3D genome conformations identify novel therapeutic targets in ependymoma
L Chavez, K Okonechnikov, A Camgoz, M Kool, D Park, O Chapman, ...
2020
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies
R van devan de Putte, GC Dworschak, E Brosens, H Reutter, ...
2020
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Artikelen 1–20