Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel.

Lacaria M, Goldstein JL, Aschoff C, Brown K, Deshpande D, Chen-Deutsch X, Ellinwood M, Farman MR, Mendez R, Louis IV, Prout J, Roark K, Selvanathan A, Stafford A, Fernandez R, Ratzsch AC, Weaver M, Bali D, Donti T, Lund T, Pollard L, Vairo FPE, Wood T, Rehder C, Clarke L

Open source

DOI: 10.1016/j.ymgme.2026.110156
Published: 2026 Jul
Container: Molecular genetics and metabolism
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1016/j.ymgme.2026.110156,
  title = {Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel.},
  author = {Lacaria M and Goldstein JL and Aschoff C and Brown K and Deshpande D and Chen-Deutsch X and Ellinwood M and Farman MR and Mendez R and Louis IV and Prout J and Roark K and Selvanathan A and Stafford A and Fernandez R and Ratzsch AC and Weaver M and Bali D and Donti T and Lund T and Pollard L and Vairo FPE and Wood T and Rehder C and Clarke L},
  year = {2026},
  journal = {Molecular genetics and metabolism},
  doi = {10.1016/j.ymgme.2026.110156},
  url = {https://doi.org/10.1016/j.ymgme.2026.110156}
}

RIS

TY  - JOUR
TI  - Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel.
AU  - Lacaria M
AU  - Goldstein JL
AU  - Aschoff C
AU  - Brown K
AU  - Deshpande D
AU  - Chen-Deutsch X
AU  - Ellinwood M
AU  - Farman MR
AU  - Mendez R
AU  - Louis IV
AU  - Prout J
AU  - Roark K
AU  - Selvanathan A
AU  - Stafford A
AU  - Fernandez R
AU  - Ratzsch AC
AU  - Weaver M
AU  - Bali D
AU  - Donti T
AU  - Lund T
AU  - Pollard L
AU  - Vairo FPE
AU  - Wood T
AU  - Rehder C
AU  - Clarke L
PY  - 2026
JO  - Molecular genetics and metabolism
DO  - 10.1016/j.ymgme.2026.110156
UR  - https://doi.org/10.1016/j.ymgme.2026.110156
ER  -

APA

M, L., JL, G., C, A., K, B., D, D., X, C., M, E., MR, F., R, M., IV, L., J, P., K, R., A, S., A, S., R, F., AC, R., M, W., D, B., T, D., T, L., L, P., FPE, V., T, W., C, R., & L, C. (2026). Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel.. Molecular genetics and metabolism. https://doi.org/10.1016/j.ymgme.2026.110156

Source records

pubmed · retrieved 2026-09-26T17:15:34.257Z