Associated Papers
Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.
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The Journal of Allergy and Clinical Immunology. Global, 2024
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Supplement: mmc2.xlsx › P3-potential_comp.het.
Multi-omics comparison of malignant and normal uveal melanocytes reveals molecular features of uveal melanoma.
Gentien D et al.
Cell Reports, 2023
37708024 (PubMed )
Supplement: NIHMS1933915-supplement-3.xlsx › Supp_table_2
Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.
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Frontiers in Genetics, 2022
35464846 (PubMed )
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Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.
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European Journal of Human Genetics : Ejhg, 2021
33776059 (PubMed )
Supplement: 41431_2021_872_MOESM1_ESM.xlsx › Sheet1
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
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Zhou Y et al.
Bmc Medical Genetics, 2020
32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL1
Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child.
Maroofian R et al.
Kidney International Reports, 2018
Molecular characterization and integrative genomic analysis of a panel of newly established penile cancer cell lines.
Zhou QH et al.
Cell Death & Disease, 2018
29880898 (PubMed )
Supplement: 41419_2018_736_MOESM8_ESM.xlsx › Sheet1
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