Associated Papers
Familial Hemophagocytic Lymphohistiocytosis Screening in Neonatal Sepsis.
Kadi Ozan Z et al.
Journal of Pediatric Hematology/oncology, 2024
Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.
Liu Y et al.
Molecular Cancer, 2023
37543594 (PubMed )
Supplement: 12943_2023_1828_MOESM2_ESM.xlsx › supplementaryTable_1B
Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.
Yang D et al.
Frontiers in Genetics, 2021
34603379 (PubMed )
Supplement: Data_Sheet_1.XLSX › DX1616_21D03390594-1
Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients.
Pan ZW et al.
Frontiers in Oncology, 2019
30967997 (PubMed )
Supplement: Table_1.XLSX › Sheet1
Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.
Liu Y et al.
Plos One, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Hemophagocytic lymphohistiocytosis can mimic the superior vena cava syndrome.
Park M et al.
Journal of Pediatric Hematology/oncology, 2012
Mutations of perforin gene in Chinese patients with acute lymphoblastic leukemia.
Yang L et al.
Leukemia Research, 2011
Variations of the perforin gene in patients with multiple sclerosis.
Cappellano G et al.
Genes and Immunity, 2008
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