@article{8d5713433ba04a67bbad1219b261e37f,
title = "A case for expanding carrier testing to include actionable X-linked disorders",
abstract = "A research study utilizing whole-genome sequence analysis for preconception carrier screening provided a genome-first detection of a severe de novo Factor VIII mutation in a woman with implications for pregnancy management and life-saving interventions of her newborn son, and a challenge to the existing paradigm regarding carrier testing.",
keywords = "X-linked, expanded carrier screening, informed decision making",
author = "Rope, {Alan F.} and Kauffman, {Tia L.} and Pat Himes and Amendola, {Laura M.} and Sumit Punj and Yassmine Akkari and Amiee Potter and Davis, {James V.} and Schneider, {Jennifer L.} and Reiss, {Jacob A.} and Gilmore, {Mari J.} and McMullen, {Carmit K.} and Nickerson, {Deborah A.} and Richards, {C. Sue} and Jarvik, {Gail P.} and Wilfond, {Benjamin S.} and Goddard, {Katrina A.B.}",
note = "Publisher Copyright: {\textcopyright} 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.",
year = "2018",
month = nov,
doi = "10.1002/ccr3.1806",
language = "English (US)",
volume = "6",
pages = "2092--2095",
journal = "Clinical Case Reports",
issn = "2050-0904",
publisher = "John Wiley and Sons Ltd",
number = "11",
}