Article
Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21.
Human genetics - 1 Feb 2020
Mukhopadhyay Nandita, Bishop Madison, Mortillo Michael, Chopra Pankaj, Hetmanski Jacqueline B, Taub Margaret A, Moreno Lina M, Valencia-Ramirez Luz Consuelo, Restrepo Claudia, Wehby George L, Hecht Jacqueline T, Deleyiannis Frederic, Butali Azeez, Weinberg Seth M, Beaty Terri H, Murray Jeffrey C, Leslie Elizabeth J, Feingold Eleanor, Marazita Mary L
Abstract excerpt
Orofacial clefts (OFCs) are among the most prevalent craniofacial birth defects worldwide and create a significant public health burden. The majority of OFCs are non-syndromic, and the genetic etiology of non-syndromic OFCs is only partially determined. Here, we analyze whole genome sequence (WGS) data for association with risk of OFCs in European and Colombian families selected from a multicenter family-based...
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