Associated Papers
de Novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita.
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Somatic reversion impacts myelodysplastic syndromes and acute myeloid leukemia evolution in the short telomere disorders.
Schratz KE et al.
The Journal of Clinical Investigation, 2021
Identification of a Rare Case With Nagashima-Type Palmoplantar Keratoderma and 18q Deletion Syndrome via Exome Sequencing and Low-Coverage Whole-Genome Sequencing.
Li Q et al.
Frontiers in Genetics, 2021
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Supplement: Data_Sheet_1.zip › All_the_Supplementary_Materials-2021-09-08 › Supplementary_Tables_and_Figures.docx
Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.
Stolarova L et al.
Biomedicines, 2020
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
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Supplement: ncomms12072-s2.xlsx › S6T2
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