A case for expanding carrier testing to include actionable X-linked disorders.
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 and 7 more
Article in Clinical case reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 38% of its field
1 · What the graph read from it
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
2 · The registry
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
3 · Its place in the literature
Who cites it
2 citing papers in PubMed, 2 citations in OpenAlex.
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what money
Authors and funding
17 authors at 6 institutions in 1 country.
Alan F RopeDepartment of Genetics Kaiser Permanente Northwest Portland Oregon.ORCID 0000-0001-7926-4612
Tia L KauffmanCenter for Health Research Kaiser Permanente Northwest Portland Oregon.ORCID 0000-0002-0419-4223
Pat HimesDepartment of Genetics Kaiser Permanente Northwest Portland Oregon.
Laura M AmendolaDepartment of Medicine Division of Medical Genetics University of Washington Seattle Washington.
Sumit PunjDepartment of Molecular and Medical Genetics Oregon Health & Science University Portland Oregon.
Yassmine AkkariDepartment of Molecular and Medical Genetics Oregon Health & Science University Portland Oregon.
Amiee PotterDepartment of Molecular and Medical Genetics Oregon Health & Science University Portland Oregon.
James V DavisCenter for Health Research Kaiser Permanente Northwest Portland Oregon.
Jennifer L SchneiderCenter for Health Research Kaiser Permanente Northwest Portland Oregon.
Jacob A ReissCenter for Health Research Kaiser Permanente Northwest Portland Oregon.
Mari J GilmoreDepartment of Genetics Kaiser Permanente Northwest Portland Oregon.
Carmit K McMullenCenter for Health Research Kaiser Permanente Northwest Portland Oregon.
Deborah A NickersonDepartment of Genome Sciences University of Washington Seattle Washington.
C Sue RichardsDepartment of Molecular and Medical Genetics Oregon Health & Science University Portland Oregon.
Gail P JarvikDepartment of Medicine Division of Medical Genetics University of Washington Seattle Washington.
Benjamin S WilfondTreuman Katz Center for Pediatric Bioethics Seattle Children's Hospital and Research Institute Seattle Washington.
Katrina A B GoddardCenter for Health Research Kaiser Permanente Northwest Portland Oregon.
Kaiser Permanente Center for Health Research · USOregon Health & Science University · USKaiser Permanente · USUniversity of Washington · USSeattle Children's Hospital · USUniversity of Washington Medical Center · US
Funding
Exome sequencing in Diverse Populations in Colorado & OregonU01HG007292 · NHGRI · KAISER FOUNDATION RESEARCH INSTITUTE · PI LEO, MICHAEL C, WILFOND, BENJAMIN SIMON · 2017 to 2021
$15.7M
CSER RoRC Centralized Support Coordinating CenterU01HG007307 · NHGRI · UNIVERSITY OF WASHINGTON · PI BURKE, WYLIE G., JARVIK, GAIL PAIRITZ · 2013 to 2016
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.
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.
A case for expanding carrier testing to include actionable X-linked disorders. · full record | OpenQuestion