Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2015 1
2021 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

2 results

Results by year

Citations

1 article found by citation matching

Search results

Filters applied: . Clear all
Page 1
Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing.
Morley TJ, Han L, Castro VM, Morra J, Perlis RH, Cox NJ, Bastarache L, Ruderfer DM. Morley TJ, et al. Nat Med. 2021 Jun;27(6):1097-1104. doi: 10.1038/s41591-021-01356-z. Epub 2021 Jun 3. Nat Med. 2021. PMID: 34083811 Free PMC article.
Compared with current approaches for genetic test determination, our model could identify more patients for testing while also increasing the proportion of those tested who have a genetic disease. We demonstrate that phenotypic patterns represen …
Compared with current approaches for genetic test determination, our model could identify more patients for testing whi …
Non-motor symptoms in genetically defined dystonia: Homogenous groups require systematic assessment.
Peall KJ, Kuiper A, de Koning TJ, Tijssen MA. Peall KJ, et al. Parkinsonism Relat Disord. 2015 Sep;21(9):1031-40. doi: 10.1016/j.parkreldis.2015.07.003. Epub 2015 Jul 17. Parkinsonism Relat Disord. 2015. PMID: 26210889 Review.
Sensory testing in DYT1 cases identified an intermediate subclinical phenotype. ...This will enable early symptom identification, appropriate clinical management, and provide additional outcome measures in future clinical trials....
Sensory testing in DYT1 cases identified an intermediate subclinical phenotype. ...This will enable early symptom id