Article
A dyadic approach to the delineation of diagnostic entities in clinical genomics.
American journal of human genetics - 7 Jan 2021
Biesecker Leslie G, Adam Margaret P, Alkuraya Fowzan S, Amemiya Anne R, Bamshad Michael J, Beck Anita E, Bennett James T, Bird Lynne M, Carey John C, Chung Brian, Clark Robin D, Cox Timothy C, Curry Cynthia, Dinulos Mary Beth Palko, Dobyns William B, Giampietro Philip F, Girisha Katta M, Glass Ian A, Graham John M, Gripp Karen W, Haldeman-Englert Chad R, Hall Bryan D, Innes A Micheil, Kalish Jennifer M, Keppler-Noreuil Kim M, Kosaki Kenjiro, Kozel Beth A, Mirzaa Ghayda M, Mulvihill John J, Nowaczyk Malgorzata J M, Pagon Roberta A, Retterer Kyle, Rope Alan F, Sanchez-Lara Pedro A, Seaver Laurie H, Shieh Joseph T, Slavotinek Anne M, Sobering Andrew K, Stevens Cathy A, Stevenson David A, Tan Tiong Yang, Tan Wen-Hann, Tsai Anne C, Weaver David D, Williams Marc S, Zackai Elaine, Zarate Yuri A
Abstract excerpt
The delineation of disease entities is complex, yet recent advances in the molecular characterization of diseases provide opportunities to designate diseases in a biologically valid manner. Here, we have formalized an approach to the delineation of Mendelian genetic disorders that encompasses two distinct but inter-related concepts: (1) the gene that is mutated and (2) the phenotypic descriptor, preferably a...
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