Harding, P; Brooks, BP; FitzPatrick, D; Moosajee, M; (2020) Anophthalmia including next-generation sequencing-based approaches. European Journal of Human Genetics , 28 pp. 388-398. 10.1038/s41431-019-0479-1.

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Abstract

Name of the disease (synonyms) See Table 1, Column 1-"Name of disease" and Column 2-"Alternative names". OMIM# of the disease See Table 1, Column 3-"OMIM# of the disease". Name of the analysed genes or DNA/chromosome segments and OMIM# of the gene(s) Core genes Name of the disease (synonyms) See Table 1, Column 1—“Name of disease” and Column 2—“Alternative names”. OMIM# of the disease See Table 1, Column 3—“OMIM# of the disease”. Name of the analysed genes or DNA/chromosome segments and OMIM# of the gene(s) Core genes (irrespective of being tested by Sanger sequencing or next-generation sequencing): See Table 1, Column 4—“Cytogenetic location”, Column 5—“Associated gene(s)” and Column 6—“OMIM# of associated gene(s)”. Additional genes (if tested by next-generation sequencing, including Whole exome/genome sequencing and panel sequencing): See Table 2, Column 1—“Gene”, Column 2—“Alternative names”, Column 3—“OMIM# of gene” and Column 4—“Cytogenetic location”. Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the gene(s) in diagnostic, predictive and prenatal settings, and for risk assessment in relatives.

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