One important piece of information about the human Mendelian disorders is the mode of inheritance. Recent studies of human genetic diseases on a large scale have provided many novel insights into the ...
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This study was designed to delineate genetic contributions, if any, to sporadic forms of mild to moderate sensorineural hearing loss (SNHL) not related to GJB2 mutations (DFNB1) in a pediatric ...
Contributed nearly one quarter of all submissions to GeneMatcher and collaborated on more than 85 peer reviewed publications in 2024 STAMFORD, Conn.--(BUSINESS WIRE)--GeneDx (Nasdaq: WGS), a leader in ...