Abstract Background: Childhood hearing impairment affects language and cognitive development. Profound congenital sensorineural hearing impairment can be due to an abnormal cochleovestibular nerve (CVN) and cochleovestibular malformations, however, the etiology of these conditions remains unclear. Methods: We used a trio‐based exome sequencing approach to unravel the underlying molecular etiology of… read more →
Article Abstract Recent studies of autism spectrum disorder (ASD) and childhood apraxia of speech (CAS) have resulted in conflicting conclusions regarding the comorbidity of these disorders on phenotypic grounds. In a nuclear family with two dually affected and one unaffected offspring, whole-exome sequences were evaluated for single nucleotide and indel… read more →
Mawi DNA Technologies: ASHG 2019 Mawi DNA Technologies will be exhibiting at ASHG 2019 held at the George R. Brown Convention Center in Houston, Texas October 15-19, 2019 — we invite you to stop by our booth #212.
Article Abstract Within the over 70 reported transforming growth factor-beta–induced (TGFBI) corneal dystrophy mutations,1more than 40 are associated with lattice corneal dystrophy (LCD), subtypes I, III, IIIA, and IIIB according to the Human Gene Mutation Database (QIAGEN, Hilden, Germany). This is a follow-up investigation to a study we published in… read more →