Associated Papers
Noncoding DNA Variants Increase the Genetic Diagnostic Yield in Primary Ciliary Dyskinesia.
Briggs L et al.
American Journal of Respiratory and Critical Care Medicine, 2025
40758541 (PubMed )
Supplement: briggs_data_supplement.pdf
Prenatal Variants of Uncertain Significance (VUS): to report or not to report?
de Koning MA et al.
European Journal of Human Genetics : Ejhg, 2025
40841822 (PubMed )
Supplement: 41431_2025_1924_MOESM1_ESM.xlsx › Supplementary_Table_1
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.
Thauvin-Robinet C et al.
European Journal of Human Genetics : Ejhg, 2025
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs
Impaired neutrophil-mediated cell death drives Ewing's Sarcoma in the background of Down syndrome.
Peirone S et al.
Frontiers in Oncology, 2024
39421445 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Tran Mau-Them F et al.
Frontiers in Genetics, 2023
KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.
Kumar K et al.
Bmc Medical Genetics, 2020
32590954 (PubMed )
Supplement: 12881_2020_1074_MOESM1_ESM.xlsx › Sheet1
A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Ji J et al.
Cold Spring Harbor Molecular Case Studies, 2019
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