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Carolina Maya‐González

Karolinska Institutet

ORCID: 0000-0003-0385-475X

Publishes on Genomics and Rare Diseases, Acute Lymphoblastic Leukemia research, RNA modifications and cancer. 10 papers and 65 citations.

PubIndex Score29Top 71% · mid-careerHow it's scored

10Publications

65Total Citations

First publication: 2020First senior author: 2023

Genomics and Rare Diseases Acute Lymphoblastic Leukemia research RNA modifications and cancer Tumors and Oncological Cases Sarcoma Diagnosis and Treatment

Top publicationsby citations

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

Ambrin Fatima, Niklas Dahl, Casimiro Castillejo-López et al.|The American Journal of Human Genetics|2021

Cited by 23

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

Bianca Tesi, Ann Nordgren, Kristina Lagerstedt‐Robinson et al.|The Lancet Regional Health - Europe|2024

Cited by 19

Cancer Risk in Patients With Muscular Dystrophy and Myotonic Dystrophy

Carolina Maya‐González, Ann Nordgren, Giorgio Tettamanti et al.|Neurology|2024

Cited by 7

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

Carolina Maya‐González, Ann Nordgren, Sandra Wessman et al.|Frontiers in Medicine|2023

Cited by 5

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

Ambrin Fatima, Niklas Dahl, Jan Hoeber et al.|The American Journal of Human Genetics|2022

Cited by 2