Rocío Acuña‐Hidalgo

Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life

Rocío Acuña‐Hidalgo, Hilal Sengül, Marloes Steehouwer et al. · The American Journal of Human Genetics · 2017 · 259 citations · Full text

Medicine, Genetics, Clonal Hematopoiesis-associated Mutations +9

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

Rocío Acuña‐Hidalgo, Tan Bo, Michael Kwint et al. · The American Journal of Human Genetics · 2015 · 255 citations · Full text

Underrecognized Source, Somatic Variant, Next-generation Sequencing +9

Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations

Katerina Kraft, Andreas Magg, Verena Heinrich et al. · Nature Cell Biology · 2019 · 164 citations

Tissue-specific Architectural Stripes, Developmental Biology, Genetic Disorder +9

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

Rocío Acuña‐Hidalgo, Denny Schanze, Ariana Kariminejad et al. · The American Journal of Human Genetics · 2014 · 150 citations · Full text

Neu-laxova Syndrome, Mendelian Disorder, Cellular Enzymology +12

Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

Uirá Souto Melo, Robert Schöpflin, Rocío Acuña‐Hidalgo et al. · The American Journal of Human Genetics · 2020 · 122 citations · Full text

Developmental Biology, Genetic Disorder, Genetics +7