Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland
2016 · European Journal of Human Genetics · 26 citations
https://doi.org/10.1038/ejhg.2016.37
L
Luca Trotta
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12
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Luca Trotta is an academic researcher from University of Helsinki. The author has contributed to research in topics: Immunodeficiency and Autoimmune Disorders & Parkinson's Disease Mechanisms and Treatments & Hearing, Cochlea, Tinnitus, Genetics. The author has an h-index of 12, co-authored 21 publications.
ORCID: 0000-0001-7162-2040Papers by this author
worksNovel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency
2020 · Journal of Clinical Immunology · 24 citations
https://doi.org/10.1007/s10875-020-00745-2
Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders
2018 · Orphanet Journal of Rare Diseases · 11 citations
https://doi.org/10.1186/s13023-018-0864-9
Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure
2023 · BMC Medical Genomics · 1 citations
https://doi.org/10.1186/s12920-023-01747-w
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