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Genetic heterogeneity and consanguinity lead to a “double hit”: Homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa

Helicase-like transcription factor (hltf) regulates g2/m transition, wt1/gata4/hif-1a cardiac transcription networks, and collagen biogenesis

Role of Helicase-Like Transcription Factor (Hltf) in the G2/M Transition and Apoptosis in Brain

Novel Regulatory Small RNAs in Streptococcus pyogenes

RNA-Seq expression profile of genes related to neurodegenerative disorders affecting the human retina

Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery–Dreifuss muscular dystrophy plus phenotype

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta

Targeted Next-Generation Resequencing of Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency

A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases

Application of Massively Parallel Sequencing to Genetic Diagnosis in Multiplex Families with Idiopathic Sensorineural Hearing Impairment

The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss