Carolina Maya Gonzalez

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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

Journal article: EJC PAEDIATRIC ONCOLOGY. 2024;4:100176
Genetic testing for childhood cancer predisposition syndromes: Controversies and recommendations from the SIOPE Host Genome Working Group meeting 2022
Bakhuizen JJ; Bourdeaut F; Wadt KAW; Kratz CP; Jongmans MCJ; Waespe N; Group SHGW
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2024;194(12):e63812
Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature
Maya-Gonzalez C; Delgado-Vega AM; Taylan F; Robinson KL; Hansson L; Pal N; Fagman H; Puls F; Wessman S; Stenman J; Georgantzi K; Fransson S; De Stahl TD; Ek T; Palmer R; Tesi B; Kogner P; Martinsson T; Nordgren A
Article: NATURE GENETICS. 2024;56(11):2287-2294
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Delgado-Vega AM; Cederroth H; Taylan F; Ekholm K; Ek M; Thonberg H; Jemt A; Nilsson D; Eisfeldt J; Bilgrav Saether K; Höijer I; Akgun-Dogan O; Asano Y; Barakat TS; Batkovskyte D; Baynam G; Bodamer O; Chetruengchai W; Corcoran P; Couse M; Danis D; Demidov G; Dohi E; Erhardsson M; Fernandez-Luna L; Fujiwara T; Garg N; Giugliani R; Gonzaga-Jauregui C; Grigelioniene G; Groza T; Gunnarsson C; Hammarsjö A; Hammond CK; Hatirnaz Ng Ö; Hesketh S; Hettiarachchi D; Johansson Soller M; Kirmani UA; Kjellberg M; Kvarnung M; Kvlividze O; Lagerstedt-Robinson K; Lasko P; Lassmann T; Lau LYS; Laurie S; Lim WK; Liu Z; Lysenkova Wiklander M; Makay P; Maiga AB; Maya-González C; Meyn MS; Neethiraj R; Nigro V; Nordgren F; Nordlund J; Orrsjö S; Ottosson J; Ozbek U; Özdemir Ö; Partin C; Pearce DA; Peck R; Pedersen A; Pettersson M; Pongpanich M; Posada de la Paz M; Ramani A; Romero JA; Romero VI; Rosenquist R; Saw AM; Spencer M; Stattin E-L; Srichomthong C; Tapia-Paez I; Taruscio D; Taylor JP; Tkemaladze T; Tully I; Tümer Z; van Zelst-Stams WAG; Verloes A; Västerviga E; Wang S; Yang R; Yamamoto S; Yépez VA; Zhang Q; Shotelersuk V; Wiafe SA; Alanay Y; Botto LD; Kirmani S; Lumaka A; Palmer EE; Puri RD; Wirta V; Lindstrand A; Buske OJ; Cederroth M; Nordgren A
Article: NEUROLOGY. 2024;103(8):e209883
Cancer Risk in Patients With Muscular Dystrophy and Myotonic Dystrophy
Maya-Gonzalez C; Tettamanti G; Taylan F; Nordenvall AS; Sejersen T; Nordgren A
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; Stahl TDD; Orrsjoe 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; Noren-Nystroem U; Borssen M; Fili M; Stalhammar G; Herold N; Tettamanti G; Maya-Gonzalez C; Arvidsson L; Rosen A; Ekholm K; Kuchinskaya E; Hallbeck A-L; Nordling M; Palmebaeck P; Kogner P; Smoler GK; Laehteenmaeki P; Fransso 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-Gonzalez C; Wessman S; Lagerstedt-Robinson K; Taylan F; Tesi B; Kuchinskaya E; McCluggage WG; Poluha A; Holm S; Nergardh R; De Stahl TD; Hoybye 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

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