Review and hypotheses: somatic mosaicism: observations related to clinical genetics

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Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

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Distinct cochlear cell types associated with genetic susceptibility to sensory and metabolic hearing loss in older adults.

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Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation.

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Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

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Adipocyte-specific deletion of adrenomedullin exacerbates high-fat diet-induced hypertension.

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Review and hypotheses: somatic mosaicism: observations related to clinical genetics

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Preservation of erniettomorph fossils in clay-rich siliciclastic deposits from the Ediacaran Wood Canyon Formation, Nevada.

The early history of Pallister-Hall syndrome-Buried treasure of a sort.

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Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

Absence of binding of alpha-bungarotoxin and cobra neurotoxin to central acetylcholine receptors - an autoradiographic study.

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