Personal information

Other IDs

ResearcherID: D-9607-2016

Keywords

Human genetics, De novo mutations, Mosaicism, Next generation sequencing

Countries

Netherlands

Activities

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Employment (7)

Universitair Medisch Centrum Sint Radboud: Nijmegen, Gelderland, NL

2012-10-01 to present | PhD student (Department of Human Genetics)
Employment
Source: Self-asserted source
Rocio Acuna-Hidalgo

University of Washington: Seattle, WA, US

2015-08-15 to 2015-12-04 | Intern in Jay Shendure's lab (Department of Genome Sciences)
Employment
Source: Self-asserted source
Rocio Acuna-Hidalgo

New York University School of Medicine: New York, NY, US

2012-01 to 2012-07 | Intern at Iannis Aifantis' lab (Department of Pathology)
Employment
Source: Self-asserted source
Rocio Acuna-Hidalgo

Universitair Medisch Centrum Sint Radboud: Nijmegen, Gelderland, NL

2011-01 to 2011-07 | Intern at Joris Veltman' group (Department of Human Genetics)
Employment
Source: Self-asserted source
Rocio Acuna-Hidalgo

Hospital Español: México DF, México DF, MX

2010-01 to 2010-12 | Medical intern
Employment
Source: Self-asserted source
Rocio Acuna-Hidalgo

Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran: Tlalpan, DF, MX

2009-01 to 2010-07 | Intern at Gerardo Gamba's lab (Department of Physiology)
Employment
Source: Self-asserted source
Rocio Acuna-Hidalgo

Hospital General Universitario Gregorio Marañón: Madrid, Madrid, ES

2009-09 to 2009-10 | Medical intern
Employment
Source: Self-asserted source
Rocio Acuna-Hidalgo

Education and qualifications (3)

Universitair Medisch Centrum Sint Radboud: Nijmegen, Gelderland, NL

2012-10-01 to 2017-06-08 | PhD in Human Genetics (Human Genetics)
Education
Source: Self-asserted source
Rocio Acuna-Hidalgo

Radboud Universiteit Nijmegen: Nijmegen, Gelderland, NL

2010-09-01 to 2012-08-31 | Master's in Molecular Mechanisms of Disease (Faculty of Medicine)
Education
Source: Self-asserted source
Rocio Acuna-Hidalgo

Universidad La Salle: Mexico DF, México DF, MX

2003-07 to 2010-01 | Medical doctor (Faculty of Medicine)
Education
Source: Self-asserted source
Rocio Acuna-Hidalgo

Works (7)

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

PLOS Genetics
2017-03 | Journal article
DOI: 10.1371/journal.pgen.1006683
Contributors: Rocio Acuna-Hidalgo; Pelagia Deriziotis; Marloes Steehouwer; Christian Gilissen; Sarah A. Graham; Sipko van Dam; Julie Hoover-Fong; Aida B. Telegrafi; Anne Destree; Robert Smigiel et al.
Source: Self-asserted source
Rocio Acuna-Hidalgo via Crossref Metadata Search

New insights into the generation and role of de novo mutations in health and disease

Genome Biology
2016-11 | Journal article
DOI: 10.1186/s13059-016-1110-1
Contributors: Rocio Acuna-Hidalgo; Joris A. Veltman; Alexander Hoischen
Source: Self-asserted source
Rocio Acuna-Hidalgo via Crossref Metadata Search

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

The American Journal of Human Genetics
2015-07 | Journal article
DOI: 10.1016/j.ajhg.2015.05.008
Contributors: Rocio Acuna-Hidalgo; Tan Bo; Michael P. Kwint; Maartje van de Vorst; Michele Pinelli; Joris A. Veltman; Alexander Hoischen; Lisenka E.L.M. Vissers; Christian Gilissen
Source: Self-asserted source
Rocio Acuna-Hidalgo via Crossref Metadata Search

Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).

2015-02 | Journal article
DOI: 10.1136/jmedgenet-2014-102936
PMID: 25670821
Contributors: Tylki-Szymańska A; Acuna-Hidalgo R; Krajewska-Walasek M; Lecka-Ambroziak A; Steehouwer M; Gilissen C; Brunner HG; Jurecka A; Różdżyńska-Świątkowska A; Hoischen A et al.
Source: Self-asserted source
Rocio Acuna-Hidalgo via Europe PubMed Central

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.

2014-09 | Journal article
DOI: 10.1016/j.ajhg.2014.07.012
PMID: 25152457
Contributors: Acuna-Hidalgo R; Schanze D; Kariminejad A; Nordgren A; Kariminejad MH; Conner P; Grigelioniene G; Nilsson D; Nordenskjöld M; Wedell A et al.
Source: Self-asserted source
Rocio Acuna-Hidalgo via Europe PubMed Central

Rare mutations in SLC12A1 and SLC12A3 protect against hypertension by reducing the activity of renal salt cotransporters.

2011-03 | Journal article
DOI: 10.1097/HJH.0b013e328341d0fd
PMID: 21157372
Contributors: Acuña R; Martínez-de-la-Maza L; Ponce-Coria J; Vázquez N; Ortal-Vite P; Pacheco-Alvarez D; Bobadilla NA; Gamba G
Source: Self-asserted source
Rocio Acuna-Hidalgo via Europe PubMed Central

[Paraneoplastic limbic encephalitis: a difficult-to-diagnose condition]

2009 | Journal article
PMID: 19291656
Contributors: Ramos-Rivas M; Rojas-Velasco G; Acuña-Hidalgo R; Márquez-Valero OA; Arellano-Bernal RH; Castro-Martínez E
Source: Self-asserted source
Rocio Acuna-Hidalgo via Europe PubMed Central

Peer review (1 review for 1 publication/grant)

Review activity for Nature communications (1)
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