Associated Papers
Comparative Diagnostic Assessment of Karyotyping, Microarray, and Whole Exome Sequencing in Genetically Associated Fetal Growth Restriction.
Luo L et al.
Diagnostics (basel, Switzerland), 2026
Utility of whole exome sequencing in the evaluation of isolated fetal growth restriction in normal chromosomal microarray analysis.
Shi X et al.
Annals of Medicine, 2025
Clonal Hematopoiesis Prevalence Years Before a Thyroid Cancer Diagnosis: A Case-Control Study.
Cabral PL et al.
Jco Precision Oncology, 2025
A Chinese Girl With LIG4 Syndrome and Hematopoietic Stem Cell Transplantation: A Rare Case Report and Review of the Literature.
Jiang C et al.
Clinical Case Reports, 2024
Allogeneic hematopoietic stem cell transplantation corrects ligase IV deficiency.
He J et al.
Transplant Immunology, 2023
Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.
Jauch AJ et al.
The Journal of Allergy and Clinical Immunology, 2023
Mismatched Unrelated Donor Hematopoietic Stem Cell Transplantation Rescues Marrow Failure From Acute Leukemia Therapy in a Patient With Previously Undiagnosed Ligase IV Syndrome.
Fridlyand DM et al.
Journal of Pediatric Hematology/oncology, 2023
DNA ligase IV dificiency with elevated serum IgG levels suspected to have myelodysplastic syndrome: a case report.
Huang M et al.
Bmc Pediatrics, 2022
A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.
Jian M et al.
Clinical and Translational Medicine, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population.
Luo X et al.
Frontiers in Immunology, 2021
LIG4 syndrome: clinical and molecular characterization in a Chinese cohort.
Sun B et al.
Orphanet Journal of Rare Diseases, 2020
Screening for primary immunodeficiency diseases by next-generation sequencing in early life.
Sun J et al.
Clinical & Translational Immunology, 2020
Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.
Duerinckx S et al.
Human Mutation, 2020
Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.
Ono S et al.
International Journal of Hematology, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype.
Dard R et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2017
Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.
Dobbs K et al.
Frontiers in Immunology, 2017
Extreme growth failure is a common presentation of ligase IV deficiency.
Murray JE et al.
Human Mutation, 2014