ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.

Tshering KC, DiStefano MT, Oza AM, Ajuyah P, Webb R, Edoh E, Broeren E, Ratliff J, Gitau V, Paris K, Aburyyan A, Alexander J, Albano V, Bai D, Booth KTA, Buonfiglio PI, Charfeddine C, Dalamón V, Castillo ID, Moreno-Pelayo MA, Duzkale H, Dorshorst B, Faridi R, Kenna M, Lewis MA, Luo M, Lu Y, Mkaouar R, Matsunaga T, Nara K, Pandya A, Redfield S, Roux I, Schimmenti LA, Schrauwen I, Shaaban S, Shen J, Vona B, Smith RJ, Rehm HL, Azaiez H, Abou Tayoun AN, Amr SS, ClinGen Hearing Loss Clinical Domain Working Group

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DOI
10.1016/j.gim.2025.101392
Published
2025 May
Container
Genetics in medicine : official journal of the American College of Medical Genetics
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1016/j.gim.2025.101392,
  title = {ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.},
  author = {Tshering KC and DiStefano MT and Oza AM and Ajuyah P and Webb R and Edoh E and Broeren E and Ratliff J and Gitau V and Paris K and Aburyyan A and Alexander J and Albano V and Bai D and Booth KTA and Buonfiglio PI and Charfeddine C and Dalamón V and Castillo ID and Moreno-Pelayo MA and Duzkale H and Dorshorst B and Faridi R and Kenna M and Lewis MA and Luo M and Lu Y and Mkaouar R and Matsunaga T and Nara K and Pandya A and Redfield S and Roux I and Schimmenti LA and Schrauwen I and Shaaban S and Shen J and Vona B and Smith RJ and Rehm HL and Azaiez H and Abou Tayoun AN and Amr SS and ClinGen Hearing Loss Clinical Domain Working Group},
  year = {2025},
  journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
  doi = {10.1016/j.gim.2025.101392},
  url = {https://doi.org/10.1016/j.gim.2025.101392}
}

RIS

TY  - JOUR
TI  - ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
AU  - Tshering KC
AU  - DiStefano MT
AU  - Oza AM
AU  - Ajuyah P
AU  - Webb R
AU  - Edoh E
AU  - Broeren E
AU  - Ratliff J
AU  - Gitau V
AU  - Paris K
AU  - Aburyyan A
AU  - Alexander J
AU  - Albano V
AU  - Bai D
AU  - Booth KTA
AU  - Buonfiglio PI
AU  - Charfeddine C
AU  - Dalamón V
AU  - Castillo ID
AU  - Moreno-Pelayo MA
AU  - Duzkale H
AU  - Dorshorst B
AU  - Faridi R
AU  - Kenna M
AU  - Lewis MA
AU  - Luo M
AU  - Lu Y
AU  - Mkaouar R
AU  - Matsunaga T
AU  - Nara K
AU  - Pandya A
AU  - Redfield S
AU  - Roux I
AU  - Schimmenti LA
AU  - Schrauwen I
AU  - Shaaban S
AU  - Shen J
AU  - Vona B
AU  - Smith RJ
AU  - Rehm HL
AU  - Azaiez H
AU  - Abou Tayoun AN
AU  - Amr SS
AU  - ClinGen Hearing Loss Clinical Domain Working Group
PY  - 2025
JO  - Genetics in medicine : official journal of the American College of Medical Genetics
DO  - 10.1016/j.gim.2025.101392
UR  - https://doi.org/10.1016/j.gim.2025.101392
ER  -

APA

KC, T., MT, D., AM, O., P, A., R, W., E, E., E, B., J, R., V, G., K, P., A, A., J, A., V, A., D, B., KTA, B., PI, B., C, C., V, D., ID, C., MA, M., H, D., B, D., R, F., M, K., MA, L., M, L., Y, L., R, M., T, M., K, N., A, P., S, R., I, R., LA, S., I, S., S, S., J, S., B, V., RJ, S., HL, R., H, A., AN, A. T., SS, A., & Group, C. H. L. C. D. W. (2025). ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1016/j.gim.2025.101392

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