Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers.

Kothari C, Srivastava S, Kousa Y, Izem R, Gierdalski M, Kim D, Good A, Dies KA, Geisel G, Morizono H, Gallo V, Pomeroy SL, Garden GA, Guay-Woodford L, Sahin M, Avillach P.

Open source

DOI
10.1186/s11689-022-09434-0
Published
2022-03-23
Container
J Neurodev Disord
Publisher
figshare
Open access
yes

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BibTeX

@article{allodium:10.1186/s11689-022-09434-0,
  title = {Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers.},
  author = {Kothari C and  Srivastava S and  Kousa Y and  Izem R and  Gierdalski M and  Kim D and  Good A and  Dies KA and  Geisel G and  Morizono H and  Gallo V and  Pomeroy SL and  Garden GA and  Guay-Woodford L and  Sahin M and  Avillach P.},
  year = {2022},
  journal = {J Neurodev Disord},
  doi = {10.1186/s11689-022-09434-0},
  url = {https://doi.org/10.1186/s11689-022-09434-0}
}

RIS

TY  - JOUR
TI  - Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers.
AU  - Kothari C
AU  -  Srivastava S
AU  -  Kousa Y
AU  -  Izem R
AU  -  Gierdalski M
AU  -  Kim D
AU  -  Good A
AU  -  Dies KA
AU  -  Geisel G
AU  -  Morizono H
AU  -  Gallo V
AU  -  Pomeroy SL
AU  -  Garden GA
AU  -  Guay-Woodford L
AU  -  Sahin M
AU  -  Avillach P.
PY  - 2022
JO  - J Neurodev Disord
DO  - 10.1186/s11689-022-09434-0
UR  - https://doi.org/10.1186/s11689-022-09434-0
ER  -

APA

C, K., S, S., Y, K., R, I., M, G., D, K., A, G., KA, D., G, G., H, M., V, G., SL, P., GA, G., L, G., M, S., & P., A. (2022). Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers.. J Neurodev Disord. https://doi.org/10.1186/s11689-022-09434-0

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