ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel

Lacey Smith, Emily Bonkowski, Anna Prentice, Stacey Cohen, Laina Lusk, Shridhar Parthasarathy, Brendan Burns, Elizabeth Butler, Yanmin Chen, Kathleen Dady, Sarah Dugger, Alexander Ing, Rhonda Lassiter, David Lewis-Smith, Maureen Mulhern, Jimmy N.H. Nguyen, Jonathan Olival, Samin A. Sajan, Christopher H. Thompson, Alfred L. George, Jacy Wagnon, Katie Yergert, Jan H. Magielski, Jillian L. McKee, Erin Riggs, Kimberly Wiltrout, Annapurna Poduri, Ingo Helbig, Heather C. Mefford

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DOI: 10.1016/j.gim.2026.102615
Published: 2026-08
Container: Genetics in Medicine
Publisher: Elsevier BV
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1016/j.gim.2026.102615,
  title = {ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel},
  author = {Lacey Smith and Emily Bonkowski and Anna Prentice and Stacey Cohen and Laina Lusk and Shridhar Parthasarathy and Brendan Burns and Elizabeth Butler and Yanmin Chen and Kathleen Dady and Sarah Dugger and Alexander Ing and Rhonda Lassiter and David Lewis-Smith and Maureen Mulhern and Jimmy N.H. Nguyen and Jonathan Olival and Samin A. Sajan and Christopher H. Thompson and Alfred L. George and Jacy Wagnon and Katie Yergert and Jan H. Magielski and Jillian L. McKee and Erin Riggs and Kimberly Wiltrout and Annapurna Poduri and Ingo Helbig and Heather C. Mefford},
  year = {2026},
  journal = {Genetics in Medicine},
  doi = {10.1016/j.gim.2026.102615},
  url = {https://doi.org/10.1016/j.gim.2026.102615}
}

RIS

TY  - JOUR
TI  - ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel
AU  - Lacey Smith
AU  - Emily Bonkowski
AU  - Anna Prentice
AU  - Stacey Cohen
AU  - Laina Lusk
AU  - Shridhar Parthasarathy
AU  - Brendan Burns
AU  - Elizabeth Butler
AU  - Yanmin Chen
AU  - Kathleen Dady
AU  - Sarah Dugger
AU  - Alexander Ing
AU  - Rhonda Lassiter
AU  - David Lewis-Smith
AU  - Maureen Mulhern
AU  - Jimmy N.H. Nguyen
AU  - Jonathan Olival
AU  - Samin A. Sajan
AU  - Christopher H. Thompson
AU  - Alfred L. George
AU  - Jacy Wagnon
AU  - Katie Yergert
AU  - Jan H. Magielski
AU  - Jillian L. McKee
AU  - Erin Riggs
AU  - Kimberly Wiltrout
AU  - Annapurna Poduri
AU  - Ingo Helbig
AU  - Heather C. Mefford
PY  - 2026
JO  - Genetics in Medicine
DO  - 10.1016/j.gim.2026.102615
UR  - https://doi.org/10.1016/j.gim.2026.102615
ER  -

APA

Smith, L., Bonkowski, E., Prentice, A., Cohen, S., Lusk, L., Parthasarathy, S., Burns, B., Butler, E., Chen, Y., Dady, K., Dugger, S., Ing, A., Lassiter, R., Lewis-Smith, D., Mulhern, M., Nguyen, J. N., Olival, J., Sajan, S. A., Thompson, C. H., George, A. L., Wagnon, J., Yergert, K., Magielski, J. H., McKee, J. L., Riggs, E., Wiltrout, K., Poduri, A., Helbig, I., & Mefford, H. C. (2026). ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel. Genetics in Medicine. https://doi.org/10.1016/j.gim.2026.102615

Source records

crossref · retrieved 2026-09-27T15:08:37.861Z