Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting

Autor: Diaz Perez, Kimberly K., Curtis, Sarah W., Sanchis-Juan, Alba, Zhao, Xuefang, Head, Taylor, Ho, Samantha, Carter, Bridget, McHenry, Toby, Bishop, Madison R., Valencia-Ramirez, Luz Consuelo, Restrepo, Claudia, Hecht, Jacqueline T., Uribe, Lina Moreno, Wehby, George, Weinberg, Seth M., Beaty, Terri H., Murray, Jeffrey C., Feingold, Eleanor, Marazita, Mary L., Cutler, David J., Epstein, Michael P., Brand, Harrison, Leslie, Elizabeth J.

Publikováno v: In Genetics in Medicine June 2023

Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.

Autor: Bishop, Madison R.¹ (AUTHOR), Diaz Perez, Kimberly K.¹ (AUTHOR), Sun, Miranda² (AUTHOR), Ho, Samantha¹ (AUTHOR), Chopra, Pankaj¹ (AUTHOR), Mukhopadhyay, Nandita³ (AUTHOR), Hetmanski, Jacqueline B.⁴ (AUTHOR), Taub, Margaret A.⁵ (AUTHOR), Moreno-Uribe, Lina M.⁶ (AUTHOR), Valencia-Ramirez, Luz Consuelo⁷ (AUTHOR), Restrepo Muñeton, Claudia P.⁷ (AUTHOR), Wehby, George⁸ (AUTHOR), Hecht, Jacqueline T.⁹ (AUTHOR), Deleyiannis, Frederic¹⁰ (AUTHOR), Weinberg, Seth M.^3,11 (AUTHOR), Wu-Chou, Yah Huei¹² (AUTHOR), Chen, Philip K.¹³ (AUTHOR), Brand, Harrison¹⁴ (AUTHOR), Epstein, Michael P.¹ (AUTHOR), Ruczinski, Ingo⁵ (AUTHOR)

Publikováno v: American Journal of Human Genetics. Jul2020, Vol. 107 Issue 1, p124-136. 13p.