Associated Papers
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3
Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders.
Sun B et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S et al.
Nature Medicine, 2023
37291213 (PubMed )
Supplement: 41591_2023_2401_MOESM1_ESM.pdf
Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review.
Sugisawa C et al.
Endocrine Journal, 2022
Clinical germline diagnostic exome sequencing for hereditary cancer: Findings within novel candidate genes are prevalent.
Powis Z et al.
Cancer Genetics, 2018
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