Associated Papers
Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.
Parra-Perez AM et al.
Medcomm, 2025
40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS5
Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.
Ishorst N et al.
Molecular Genetics & Genomic Medicine, 2023
36468602 (PubMed )
Supplement: MGG3-11-e2109-s001.pdf
Germline deletion of ETV6 in familial acute lymphoblastic leukemia.
Rampersaud E et al.
Blood Advances, 2019
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
30755392 (PubMed )
Supplement: supp_mcs.a003756_Supplemental_Table_1.xlsx › S2._106_Clinical_cases_
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