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Weizhen Ji

Yale University

36

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Correlating genomic copy number alterations with clinicopathologic findings in 75 cases of hepatocellular carcinoma.

2021 BMC Medical Genomics
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[A review of consensus statements, practice resources, standards and guidelines for clinical applications of next-generation sequencing technologies in the United States].

2021 Chinese journal of medical genetics
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D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia.

2021 American Journal of Medical Genetics Part A
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Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation.

2021 Nature Immunology
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Ring chromosome formation by intra-strand repairing of subtelomeric double stand breaks and clinico-cytogenomic correlations for ring chromosome 9.

2020 American Journal of Medical Genetics Part A
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Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome.

2020 Journal of Human Genetics
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De novo damaging variants associated with congenital heart diseases contribute to the connectome.

2020 Scientific Reports
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A review of genetic-based evolutionary algorithms in SVM parameters optimization

2020 Evolutionary Intelligence
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DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.

2020 American Journal of Medical Genetics Part A
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Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.

2020 Human Molecular Genetics
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