Associated Papers
The Promise of Exome Sequencing for the Differential Diagnosis of Late-Onset End-Stage Renal Disease in Turkish Cypriots.
Kazan HH et al.
Cureus, 2025
Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.
Zhao J et al.
Scientific Reports, 2022
36564540 (PubMed )
Supplement: 41598_2022_26850_MOESM3_ESM.xlsx › RawData
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1
Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.
Lei P et al.
Plos One, 2022
36350814 (PubMed )
Supplement: pone.0276233.s004.xlsx › RawData
Catching hidden variation: systematic correction of reference minor allele annotation in clinical variant calling.
Barbitoff YA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.
Ferrarini A et al.
American Journal of Medical Genetics. Part A, 2014
OTX2 mutations contribute to the otocephaly-dysgnathia complex.
Chassaing N et al.
Journal of Medical Genetics, 2012
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