Associated Papers
Genomic profiles of renal cell carcinoma in a small Chinese cohort.
Tai S et al.
Frontiers in Oncology, 2023
37427096 (PubMed )
Supplement: Table_1.xls › Sheet1
High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses.
Vaknin N et al.
Prenatal Diagnosis, 2022
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
van der Sluijs PJ et al.
Genes, 2021
34440449 (PubMed )
Supplement: genes-12-01275-s001.zip › 1genes-1288097_SUPPLEMENTARY-MATERIAL_18082021.pdf
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
Qi H et al.
Plos Genetics, 2018
30532227 (PubMed )
Supplement: pgen.1007822.s011.xlsx › CodingDNM
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
Chérot E et al.
Clinical Genetics, 2018
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