Associated Papers
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.
Tinker RJ et al.
American Journal of Ophthalmology, 2025
40780579 (PubMed )
Supplement: NIHMS2116078-supplement-Supplementary_Material.pdf
Next-generation Sequencing and Other Second Tier Tests in Newborn Screening for (X-linked) Agammaglobulinemia.
Blom M et al.
Journal of Clinical Immunology, 2025
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
Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.
Gimeno AF et al.
American Journal of Medical Genetics. Part A, 2025
Rare heterozygous GDF6 variants in patients with renal anomalies.
Martens H et al.
European Journal of Human Genetics : Ejhg, 2020
32737436 (PubMed )
Supplement: 41431_2020_678_MOESM2_ESM.xlsx › Variant_Prioritization
Coexistence of genetic conditions: exploring a possible relationship.
Alaqeel B et al.
Sudanese Journal of Paediatrics, 2019
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