A case for expanding carrier testing to include actionable X‐linked disorders

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 exis...

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Autores principales: Rope, Alan F., Kauffman, Tia L., Himes, Pat, Amendola, Laura M., Punj, Sumit, Akkari, Yassmine, Potter, Amiee, Davis, James V., Schneider, Jennifer L., Reiss, Jacob A., Gilmore, Mari J., McMullen, Carmit K., Nickerson, Deborah A., Richards, C. Sue, Jarvik, Gail P., Wilfond, Benjamin S., Goddard, Katrina A. B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230667/
https://www.ncbi.nlm.nih.gov/pubmed/30455898
http://dx.doi.org/10.1002/ccr3.1806
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author Rope, Alan F.
Kauffman, Tia L.
Himes, Pat
Amendola, Laura M.
Punj, Sumit
Akkari, Yassmine
Potter, Amiee
Davis, James V.
Schneider, Jennifer L.
Reiss, Jacob A.
Gilmore, Mari J.
McMullen, Carmit K.
Nickerson, Deborah A.
Richards, C. Sue
Jarvik, Gail P.
Wilfond, Benjamin S.
Goddard, Katrina A. B.
author_facet Rope, Alan F.
Kauffman, Tia L.
Himes, Pat
Amendola, Laura M.
Punj, Sumit
Akkari, Yassmine
Potter, Amiee
Davis, James V.
Schneider, Jennifer L.
Reiss, Jacob A.
Gilmore, Mari J.
McMullen, Carmit K.
Nickerson, Deborah A.
Richards, C. Sue
Jarvik, Gail P.
Wilfond, Benjamin S.
Goddard, Katrina A. B.
author_sort Rope, Alan F.
collection PubMed
description 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.
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spelling pubmed-62306672018-11-19 A case for expanding carrier testing to include actionable X‐linked disorders Rope, Alan F. Kauffman, Tia L. Himes, Pat Amendola, Laura M. Punj, Sumit Akkari, Yassmine Potter, Amiee Davis, James V. Schneider, Jennifer L. Reiss, Jacob A. Gilmore, Mari J. McMullen, Carmit K. Nickerson, Deborah A. Richards, C. Sue Jarvik, Gail P. Wilfond, Benjamin S. Goddard, Katrina A. B. Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2018-09-19 /pmc/articles/PMC6230667/ /pubmed/30455898 http://dx.doi.org/10.1002/ccr3.1806 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Rope, Alan F.
Kauffman, Tia L.
Himes, Pat
Amendola, Laura M.
Punj, Sumit
Akkari, Yassmine
Potter, Amiee
Davis, James V.
Schneider, Jennifer L.
Reiss, Jacob A.
Gilmore, Mari J.
McMullen, Carmit K.
Nickerson, Deborah A.
Richards, C. Sue
Jarvik, Gail P.
Wilfond, Benjamin S.
Goddard, Katrina A. B.
A case for expanding carrier testing to include actionable X‐linked disorders
title A case for expanding carrier testing to include actionable X‐linked disorders
title_full A case for expanding carrier testing to include actionable X‐linked disorders
title_fullStr A case for expanding carrier testing to include actionable X‐linked disorders
title_full_unstemmed A case for expanding carrier testing to include actionable X‐linked disorders
title_short A case for expanding carrier testing to include actionable X‐linked disorders
title_sort case for expanding carrier testing to include actionable x‐linked disorders
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230667/
https://www.ncbi.nlm.nih.gov/pubmed/30455898
http://dx.doi.org/10.1002/ccr3.1806
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