Associated Papers
Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.
Sun H et al.
Ebiomedicine, 2025
40347836 (PubMed )
Supplement: mmc4.xlsx › Supplementary_Table_9
Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.
Cannizzaro IR et al.
International Journal of Molecular Sciences, 2024
39409151 (PubMed )
Supplement: ijms-25-10822-s001.zip › Supplementary_Table_S1.xlsx › Primary_tumor_ACMG_AMP
Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.
Linder A et al.
Human Reproduction (oxford, England), 2024
38459814 (PubMed )
Supplement: deae043_supplementary_table_s3.xlsx › Endometriosis
Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants.
Geck RC et al.
American Journal of Human Genetics, 2023
36681081 (PubMed )
Supplement: mmc1.xlsx › Table_S1_variants
Did variants in inborn errors of immunity genes contribute to the extinction of Neanderthals?
Zhou Z et al.
Asian Pacific Journal of Allergy and Immunology, 2022
Molecular dynamics of G6PD variants from sub-Saharan Africa.
Batista da Rocha J et al.
Biochemistry and Biophysics Reports, 2022
The genomic landscape of pediatric renal cell carcinomas.
Beck P et al.
Iscience, 2022
35445187 (PubMed )
Supplement: mmc3.xlsx › DKFZ_SNVs_and_indels_pipeline
G6PD distribution in sub-Saharan Africa and potential risks of using chloroquine/hydroxychloroquine based treatments for COVID-19.
da Rocha JEB et al.
The Pharmacogenomics Journal, 2021
G6PD variant distribution in sub-Saharan Africa and potential risks of using chloroquine/hydroxychloroquine based treatments for COVID-19.
da Rocha J et al.
Medrxiv : the Preprint Server for Health Sciences, 2020
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