Associated Papers
Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease.
Topping J et al.
Arthritis & Rheumatology (hoboken, N.j.), 2025
39492681 (PubMed )
Supplement: ART-77-582-s004.pdf
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › IPK1_het
CCNF (Cyclin F) as a Candidate Gene for Familial Hodgkin Lymphoma: Additional Evidence for the Importance of Mitotic Checkpoint Defects in Tumorigenesis.
Khoury E et al.
Hemasphere, 2023
38026792 (PubMed )
Supplement: hs9-7-e985-s001.xlsx › Suppl_Table_S4
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.
Bruel AL et al.
European Journal of Human Genetics : Ejhg, 2019
Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype.
Onodera S et al.
Plos One, 2017
Targeted cancer exome sequencing reveals recurrent mutations in myeloproliferative neoplasms.
Tenedini E et al.
Leukemia, 2014
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
Chen YZ et al.
Annals of Neurology, 2014
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