Associated Papers
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature.
Zhang Y et al.
Molecular Genetics & Genomic Medicine, 2024
Molecular Features of Resected Melanoma Brain Metastases, Clinical Outcomes, and Responses to Immunotherapy.
Vasudevan HN et al.
Jama Network Open, 2023
37589977 (PubMed )
Supplement: jamanetwopen-e2329186-s001.xlsx › TableS1
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Vegas N et al.
Human Mutation, 2022
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