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

Rope AF, Kauffman TL, Himes P, Amendola LM, Punj S, Akkari Y, Potter A, Davis JV, Schneider JL, Reiss JA, Gilmore MJ, McMullen CK, Nickerson DA, Richards CS, Jarvik GP, Wilfond BS, Goddard KAB

Open source

DOI: 10.1002/ccr3.1806
Published: 2018 Nov
Container: Clinical case reports
Publisher: Not recorded
Open access: yes

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uncertain Score 53/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

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Cite this work

BibTeX

@article{allodium:10.1002/ccr3.1806,
  title = {A case for expanding carrier testing to include actionable X-linked disorders.},
  author = {Rope AF and Kauffman TL and Himes P and Amendola LM and Punj S and Akkari Y and Potter A and Davis JV and Schneider JL and Reiss JA and Gilmore MJ and McMullen CK and Nickerson DA and Richards CS and Jarvik GP and Wilfond BS and Goddard KAB},
  year = {2018},
  journal = {Clinical case reports},
  doi = {10.1002/ccr3.1806},
  url = {https://doi.org/10.1002/ccr3.1806}
}

RIS

TY  - JOUR
TI  - A case for expanding carrier testing to include actionable X-linked disorders.
AU  - Rope AF
AU  - Kauffman TL
AU  - Himes P
AU  - Amendola LM
AU  - Punj S
AU  - Akkari Y
AU  - Potter A
AU  - Davis JV
AU  - Schneider JL
AU  - Reiss JA
AU  - Gilmore MJ
AU  - McMullen CK
AU  - Nickerson DA
AU  - Richards CS
AU  - Jarvik GP
AU  - Wilfond BS
AU  - Goddard KAB
PY  - 2018
JO  - Clinical case reports
DO  - 10.1002/ccr3.1806
UR  - https://doi.org/10.1002/ccr3.1806
ER  -

APA

AF, R., TL, K., P, H., LM, A., S, P., Y, A., A, P., JV, D., JL, S., JA, R., MJ, G., CK, M., DA, N., CS, R., GP, J., BS, W., & KAB, G. (2018). A case for expanding carrier testing to include actionable X-linked disorders.. Clinical case reports. https://doi.org/10.1002/ccr3.1806

Source records

pubmed · retrieved 2026-09-25T00:52:16.330Z
europe-pmc · retrieved 2026-09-25T00:52:16.338Z
doaj · retrieved 2026-09-25T00:52:16.317Z