Associated Papers
Genetic susceptibility in early-onset melanoma: An observational Greek cohort study.
Chatziioannou E et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
40869941 (PubMed )
Supplement: genes-16-00893-s001.zip › File_S1.xlsx › suplement
Geographic and age variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Nature, 2025
40267983 (PubMed )
Supplement: 41586_2025_9025_MOESM3_ESM.xlsx › Supplementary_Table_55
Geographic and age-related variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40034755 (PubMed )
Supplement: media-5.xlsx › Supplementary_Note_Table_28
Postnatal genetic and neurodevelopmental assessment in infants born at term with severely low birth weight of non-placental origin.
Paz Y Miño MF et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.
Lhota F et al.
Clinical Genetics, 2016
Poly (ADP-Ribose) Polymerase Inhibitor Hypersensitivity in Aggressive Myeloproliferative Neoplasms.
Pratz KW et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016
Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency.
Saito S et al.
Journal of Human Genetics, 2016
Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
Murray JE et al.
American Journal of Human Genetics, 2015
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