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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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Novel disease loci:

Biallelic mutations in the ios歪p恩 gene cause a novel primary ciliopathy

Genotype-phenotype correlations:

Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders

Developmental defects:

Congenital sensorineural hearing loss as the initial presentation of PTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms

Novel disease loci:

Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis

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Genotype-phenotype correlations:

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes

Diagnostics:

Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients

Genotype-phenotype correlations:

A in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss

Phenotypes:

Developmental defects:

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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

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