Carolina Maya Gonzalez

About me
Publications
Public outreach and news

About me

The overall goal of my PhD project is to evaluate the benefits of applying
whole genome sequencing for the genetic diagnosis of cancer predisposition
syndromes in clinical practice in Sweden
I am a PhD student at the Rare Diseases group at Karolinska Institutet.
Previously, I completed an Erasmus+ master of excellence in Innovative
Medicine between the University of Groningen in the Netherlands and the
University of Uppsala in Sweden. During my studies, I worked with modelling
of rare diseases using induced Pluripotent Stem Cells (iPSCs), CRISPR/Cas9
editing and patch-clamp electrophysiology. Currently, I am part of the ChiCaP
(Childhood Cancer Predisposition) Project, which aims to evaluate the
benefits of implementing germline genetic sequencing in pediatric
oncology in Sweden.

Articles

Article: THE LANCET REGIONAL HEALTH - EUROPE. 2024;39:100881

Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors-a nationwide, prospective Swedish study.

Tesi B; Robinson KL; Abel F; Díaz de Ståhl T; Orrsjö S; Poluha A; Hellberg M; Wessman S; Samuelsson S; Frisk T; Vogt H; Henning K; Sabel M; Ek T; Pal N; Nyman P; Giraud G; Wille J; Pronk CJ; Norén-Nyström U; Borssén M; Fili M; Stålhammar G; Herold N; Tettamanti G; Maya-Gonzalez C; Arvidsson L; Rosén A; Ekholm K; Kuchinskaya E; Hallbeck A-L; Nordling M; Palmebäck P; Kogner P; Smoler GK; Lähteenmäki P; Fransson S; Martinsson T; Shamik A; Mertens F; Rosenquist R; Wirta V; Tham E; Grillner P; Sandgren J; Ljungman G; Gisselsson D; Taylan F; Nordgren A
Article: FRONTIERS IN MEDICINE. 2023;10:1172565

Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation.

Maya-González C; Wessman S; Lagerstedt-Robinson K; Taylan F; Tesi B; Kuchinskaya E; McCluggage WG; Poluha A; Holm S; Nergårdh R; Díaz De Ståhl T; Höybye C; Tettamanti G; Delgado-Vega AM; Skarin Nordenvall A; Nordgren A
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2021;108(4):739-748

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.

Fatima A; Hoeber J; Schuster J; Koshimizu E; Maya-Gonzalez C; Keren B; Mignot C; Akram T; Ali Z; Miyatake S; Tanigawa J; Koike T; Kato M; Murakami Y; Abdullah U; Ali MA; Fadoul R; Laan L; Castillejo-López C; Liik M; Jin Z; Birnir B; Matsumoto N; Baig SM; Klar J; Dahl N
Article: STEM CELL RESEARCH. 2020;44:101739

Incontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9.

Fatima A; Schuster J; Akram T; González CM; Sobol M; Hoeber J; Dahl N

About me

Articles

News from KI

Events from KI