A case for expanding carrier testing to include actionable X‐linked disorders Article Swipe
Alan F. Rope
,
Tia L. Kauffman
,
Pat Himes
,
Laura M. Amendola
,
Sumit Punj
,
Yassmine Akkari
,
Amiee Potter
,
James V. Davis
,
Jennifer L. Schneider
,
Jacob A. Reiss
,
Mari J. Gilmore
,
Carmit K. McMullen
,
Deborah A. Nickerson
,
C. Sue Richards
,
Gail P. Jarvik
,
Benjamin S. Wilfond
,
Katrina A.B. Goddard
·
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.1002/ccr3.1806
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.1002/ccr3.1806
Key Clinical Message 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.
Related Topics
Concepts
Medicine
Psychological intervention
Genetic testing
Carrier testing
Pregnancy
Genetics
Prenatal diagnosis
Nursing
Fetus
Internal medicine
Biology
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/ccr3.1806
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ccr3.1806
- OA Status
- gold
- Cited By
- 2
- References
- 8
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2891459555
All OpenAlex metadata
Raw OpenAlex JSON
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https://openalex.org/W2891459555Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1002/ccr3.1806Digital Object Identifier
- Title
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A case for expanding carrier testing to include actionable X‐linked disordersWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2018Year of publication
- Publication date
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2018-09-19Full publication date if available
- Authors
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Alan F. Rope, Tia L. Kauffman, Pat Himes, Laura M. Amendola, Sumit Punj, Yassmine Akkari, Amiee Potter, James V. Davis, Jennifer L. Schneider, Jacob A. Reiss, Mari J. Gilmore, Carmit K. McMullen, Deborah A. Nickerson, C. Sue Richards, Gail P. Jarvik, Benjamin S. Wilfond, Katrina A.B. GoddardList of authors in order
- Landing page
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https://doi.org/10.1002/ccr3.1806Publisher landing page
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ccr3.1806Direct link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
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goldOpen access status per OpenAlex
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ccr3.1806Direct OA link when available
- Concepts
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Medicine, Psychological intervention, Genetic testing, Carrier testing, Pregnancy, Genetics, Prenatal diagnosis, Nursing, Fetus, Internal medicine, BiologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
2Total citation count in OpenAlex
- Citations by year (recent)
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2018: 2Per-year citation counts (last 5 years)
- References (count)
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8Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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