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Colombia, United Kingdom, Belgium

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Works (4)

Biallelic variants inCOX18cause a mitochondrial disorder primarily manifesting as peripheral neuropathy

2024-07-04 | Preprint
DOI: 10.1101/2024.07.03.24309787
Contributors: Camila Armirola-Ricaurte; Laura Morant; Isabelle Adant; Sherifa Ahmed Hamed; Menelaos Pipis; Stephanie Efthymiou; Silvia Amor-Barris; Derek Atkinson; Liedewei Van de Vondel; Aleksandra Tomic et al.
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Crossref

Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders

Genetics in Medicine
2024-06 | Journal article
DOI: 10.1016/j.gim.2024.101117
Contributors: Camila Armirola-Ricaurte; Noortje Zonnekein; Georgios Koutsis; Silvia Amor-Barris; Ana Lara Pelayo-Negro; Derek Atkinson; Stephanie Efthymiou; Valentina Turchetti; Argyris Dinopoulos; Antonio Garcia et al.
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Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders

The American Journal of Human Genetics
2023-08 | Journal article
DOI: 10.1016/j.ajhg.2023.07.007
Contributors: Alba Sanchis-Juan; Karyn Megy; Jonathan Stephens; Camila Armirola Ricaurte; Eleanor Dewhurst; Kayyi Low; Courtney E. French; Detelina Grozeva; Kathleen Stirrups; Marie Erwood et al.
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HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling

Orphanet Journal of Rare Diseases
2022-10-14 | Journal article
DOI: 10.1186/s13023-022-02541-0
Part of ISSN: 1750-1172
Contributors: Matilde Malcorps; Silvia Amor Barris; Birute Burnyte; Ramune Vilimiene; Camila Armirola-Ricaurte; Kristina Grigalioniene; Alexandra Ekshteyn; Ausra Morkuniene; Arunas Vaitkevicius; Els De Vriendt et al.
Source: Self-asserted source
Camila Armirola-Ricaurte
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