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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