Publications by authors named "Rocio Acuna-Hidalgo"

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Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.
Shantanu Jain, Marena Trinidad, Thanh Binh Nguyen, Kaiya Jones, Santiago Diaz Neto, Rocio Acuna-Hidalgo

Hum Genet· March 2025

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Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.
Shantanu Jain, Marena Trinidad, Thanh Binh Nguyen, Kaiya Jones, Santiago Diaz Neto, Rocio Acuna-Hidalgo

bioRxiv· June 2024

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3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma.
Konstantin Okonechnikov, Aylin Camgöz, Owen Chapman, Sameena Wani, Donglim Esther Park, Rocio Acuna-Hidalgo

Nat Commun· April 2023

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Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.
Uirá Souto Melo, Robert Schöpflin, Rocio Acuna-Hidalgo, Martin Atta Mensah, Björn Fischer-Zirnsak

Am J Hum Genet· June 2020

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A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.
Romy van de Putte, Gabriel C Dworschak, Erwin Brosens, Heiko M Reutter, Carlo L M Marcelis, Rocio Acuna-Hidalgo

Front Pediatr· June 2020

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Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.
Romy van de Putte, Charlotte H W Wijers, Heiko Reutter, Sita H Vermeulen, Carlo L M Marcelis, Rocio Acuna-Hidalgo

PLoS One· January 2020

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Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations.
Katerina Kraft, Andreas Magg, Verena Heinrich, Christina Riemenschneider, Robert Schöpflin, Rocío Acuna-Hidalgo

Nat Cell Biol· March 2019

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Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.
Gaël Nicolas, Rocío Acuña-Hidalgo, Michael J Keogh, Olivier Quenez, Marloes Steehouwer

Alzheimers Dement· December 2018

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Expanding the clinical spectrum of recessive truncating mutations of to a Bohring-Opitz-like phenotype.
Ange-Line Bruel, Stefania Bigoni, Joanna Kennedy, Margo Whiteford, Chris Buxton, Rocio Acuna-Hidalgo

J Med Genet· December 2017

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The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.
Wei Shen, Jennifer M Heeley, Colleen M Carlston, Rocio Acuna-Hidalgo, Willy M Nillesen

Am J Med Genet A· November 2017

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Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life.
Rocio Acuna-Hidalgo, Hilal Sengul, Marloes Steehouwer, Maartje van de Vorst, Sita H Vermeulen

Am J Hum Genet· July 2017

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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham

PLoS Genet· March 2017

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New insights into the generation and role of de novo mutations in health and disease.
Rocio Acuna-Hidalgo, Joris A Veltman, Alexander Hoischen

Genome Biol· November 2016

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Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation.
Rocio Acuna-Hidalgo, Tan Bo, Michael P Kwint, Maartje van de Vorst, Michele Pinelli

Am J Hum Genet· July 2015

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Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).
Anna Tylki-Szymańska, Rocio Acuna-Hidalgo, Małgorzata Krajewska-Walasek, Agnieszka Lecka-Ambroziak, Marloes Steehouwer

J Med Genet· May 2015

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Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
Rocio Acuna-Hidalgo, Denny Schanze, Ariana Kariminejad, Ann Nordgren, Mohamad Hasan Kariminejad

Am J Hum Genet· September 2014

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