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Journal of Medical Genetics

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The Journal of Medical Genetics accepts submissions of a wide range of article types, including original research, review and short reports.
 
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Cancer genetics:

Variants in reveal distinct mechanisms for predisposition to papillary thyroid carcinoma

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primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

Ethics and policy:

Impacts of genomics on the health and social costs of intellectual disability

Genotype-phenotype correlations:

Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia

Cancer genetics:

as a candidate high-penetrance melanoma susceptibility gene