Improving Genetic Testing for Antithrombin Deficiency by Optimizing ACMG/AMP Variant Curation Guidelines for the SERPINC1 Gene

Kristy Lee; Shruti Mohan; Sean Tracy; Joel Morales-Rosado; Brian Branchford; Elisabetta Castoldi; Alfred Li; Christelle Orlando; Amanda Payne; Valerie Trapp-Stamorski; David Tregouet; Pierre Morrange

Improving Genetic Testing for Antithrombin Deficiency by Optimizing ACMG/AMP Variant Curation Guidelines for the SERPINC1 Gene

Kristy Lee, Shruti Mohan, Sean Tracy, Joel Morales-Rosado, Brian Branchford, Elisabetta Castoldi, Alfred Li, Christelle Orlando, Amanda Payne, Valerie Trapp-Stamorski, David Tregouet, Pierre Morrange

Research output: Unpublished contribution to conference › Poster

Original language	English
Publication status	Unpublished - 2023
Event	XXXI Congress of the ISTH - Montreal, Canada Duration: 24 Jun 2022 → 28 Jun 2023

Conference

Conference	XXXI Congress of the ISTH
Country/Territory	Canada
City	Montreal
Period	24/06/22 → 28/06/23

1 Participation in conference
1 Membership of peer-review panel or committee

XXXI Congress of the ISTH
Christelle Orlando (Participant)
24 Jun 2023 → 28 Jun 2023
Activity: Participating in or organising an event › Participation in conference
ClinGen Thrombosis Variant Curation Expert Panel (External organisation)
Christelle Orlando (Chair)
1 Jan 2023 → …
Activity: Membership › Membership of peer-review panel or committee

Cite this

Lee, K., Mohan, S., Tracy, S., Morales-Rosado, J., Branchford, B., Castoldi, E., Li, A., Orlando, C., Payne, A., Trapp-Stamorski, V., Tregouet, D., & Morrange, P. (2023). Improving Genetic Testing for Antithrombin Deficiency by Optimizing ACMG/AMP Variant Curation Guidelines for the SERPINC1 Gene. Poster session presented at XXXI Congress of the ISTH, Montreal, Canada.

Lee, Kristy ; Mohan, Shruti ; Tracy, Sean ; Morales-Rosado, Joel ; Branchford, Brian ; Castoldi, Elisabetta ; Li, Alfred ; Orlando, Christelle ; Payne, Amanda ; Trapp-Stamorski, Valerie ; Tregouet, David ; Morrange, Pierre. / Improving Genetic Testing for Antithrombin Deficiency by Optimizing ACMG/AMP Variant Curation Guidelines for the SERPINC1 Gene. Poster session presented at XXXI Congress of the ISTH, Montreal, Canada.

@conference{9ecd39d2e467443b807bc990e069fe7c,

title = "Improving Genetic Testing for Antithrombin Deficiency by Optimizing ACMG/AMP Variant Curation Guidelines for the SERPINC1 Gene",

author = "Kristy Lee and Shruti Mohan and Sean Tracy and Joel Morales-Rosado and Brian Branchford and Elisabetta Castoldi and Alfred Li and Christelle Orlando and Amanda Payne and Valerie Trapp-Stamorski and David Tregouet and Pierre Morrange",

year = "2023",

language = "English",

note = "null ; Conference date: 24-06-2022 Through 28-06-2023",

}

Improving Genetic Testing for Antithrombin Deficiency by Optimizing ACMG/AMP Variant Curation Guidelines for the SERPINC1 Gene. / Lee, Kristy; Mohan, Shruti; Tracy, Sean; Morales-Rosado, Joel; Branchford, Brian; Castoldi, Elisabetta; Li, Alfred; Orlando, Christelle; Payne, Amanda; Trapp-Stamorski, Valerie; Tregouet, David; Morrange, Pierre.

2023. Poster session presented at XXXI Congress of the ISTH, Montreal, Canada.

Research output: Unpublished contribution to conference › Poster

TY - CONF

T1 - Improving Genetic Testing for Antithrombin Deficiency by Optimizing ACMG/AMP Variant Curation Guidelines for the SERPINC1 Gene

AU - Lee, Kristy

AU - Mohan, Shruti

AU - Tracy, Sean

AU - Morales-Rosado, Joel

AU - Branchford, Brian

AU - Castoldi, Elisabetta

AU - Li, Alfred

AU - Orlando, Christelle

AU - Payne, Amanda

AU - Trapp-Stamorski, Valerie

AU - Tregouet, David

AU - Morrange, Pierre

PY - 2023

Y1 - 2023

M3 - Poster

Y2 - 24 June 2022 through 28 June 2023

ER -

Improving Genetic Testing for Antithrombin Deficiency by Optimizing ACMG/AMP Variant Curation Guidelines for the SERPINC1 Gene

Conference

Activities

XXXI Congress of the ISTH

ClinGen Thrombosis Variant Curation Expert Panel (External organisation)

Cite this