Associated Papers
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM6_ESM.xlsx › Supplementary_Data_3_pathogenic
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
39291214 (PubMed )
Supplement: mmc1.xlsx › S2a._Diagnostic_cohort
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
Schröder S et al.
Orphanet Journal of Rare Diseases, 2023
37131188 (PubMed )
Supplement: 13023_2023_2706_MOESM1_ESM.pdf
Structure of the N-terminal coiled-coil domains of the ciliary protein Rpgrip1l.
He R et al.
Iscience, 2023
36915689 (PubMed )
Supplement: mmc1.pdf
Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing.
Zu B et al.
Computational and Structural Biotechnology Journal, 2021
34194672 (PubMed )
Supplement: mmc1.xlsx › S3
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.
Nikopoulos K et al.
Nature Communications, 2019
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.
Bryant L et al.
Clinical Ophthalmology (auckland, N.z.), 2018
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