Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Guillouet C, Agostini V, Baujat G, Cocciadiferro D, Pippucci T, Lesieur-Sebellin M, Georget M, Schatz U, Fauth C, Louie RJ, Rogers C, Davis JM, Konstantopoulou V, Mayr JA, Bouman A, Wilke M, VanNoy GE, England EM, Park KL, Brown K, Saenz M, Novelli A, Digilio MC, Mastromoro G, Rongioletti MCA, Piacentini G, Kaiyrzhanov R, Guliyeva S, Hasanova L, Shears D, Bhatnagar I, Stals K, Klaas O, Horvath J, University of Washington Center for Mendelian Genomics, Bouvagnet P, Witmer PD, MacCarrick G, Cisarova K, Good JM, Gorokhova S, Boute O, Smol T, Bruel AL, Patat O, Broadbent JR, Tan TY, Tan NB, Lyonnet S, Busa T, Graziano C, Amiel J, Gordon CT

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DOI: 10.1016/j.ajhg.2025.02.016
Published: 2025 Apr 3
Container: American journal of human genetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1016/j.ajhg.2025.02.016,
  title = {Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.},
  author = {Guillouet C and Agostini V and Baujat G and Cocciadiferro D and Pippucci T and Lesieur-Sebellin M and Georget M and Schatz U and Fauth C and Louie RJ and Rogers C and Davis JM and Konstantopoulou V and Mayr JA and Bouman A and Wilke M and VanNoy GE and England EM and Park KL and Brown K and Saenz M and Novelli A and Digilio MC and Mastromoro G and Rongioletti MCA and Piacentini G and Kaiyrzhanov R and Guliyeva S and Hasanova L and Shears D and Bhatnagar I and Stals K and Klaas O and Horvath J and University of Washington Center for Mendelian Genomics and Bouvagnet P and Witmer PD and MacCarrick G and Cisarova K and Good JM and Gorokhova S and Boute O and Smol T and Bruel AL and Patat O and Broadbent JR and Tan TY and Tan NB and Lyonnet S and Busa T and Graziano C and Amiel J and Gordon CT},
  year = {2025},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2025.02.016},
  url = {https://doi.org/10.1016/j.ajhg.2025.02.016}
}

RIS

TY  - JOUR
TI  - Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.
AU  - Guillouet C
AU  - Agostini V
AU  - Baujat G
AU  - Cocciadiferro D
AU  - Pippucci T
AU  - Lesieur-Sebellin M
AU  - Georget M
AU  - Schatz U
AU  - Fauth C
AU  - Louie RJ
AU  - Rogers C
AU  - Davis JM
AU  - Konstantopoulou V
AU  - Mayr JA
AU  - Bouman A
AU  - Wilke M
AU  - VanNoy GE
AU  - England EM
AU  - Park KL
AU  - Brown K
AU  - Saenz M
AU  - Novelli A
AU  - Digilio MC
AU  - Mastromoro G
AU  - Rongioletti MCA
AU  - Piacentini G
AU  - Kaiyrzhanov R
AU  - Guliyeva S
AU  - Hasanova L
AU  - Shears D
AU  - Bhatnagar I
AU  - Stals K
AU  - Klaas O
AU  - Horvath J
AU  - University of Washington Center for Mendelian Genomics
AU  - Bouvagnet P
AU  - Witmer PD
AU  - MacCarrick G
AU  - Cisarova K
AU  - Good JM
AU  - Gorokhova S
AU  - Boute O
AU  - Smol T
AU  - Bruel AL
AU  - Patat O
AU  - Broadbent JR
AU  - Tan TY
AU  - Tan NB
AU  - Lyonnet S
AU  - Busa T
AU  - Graziano C
AU  - Amiel J
AU  - Gordon CT
PY  - 2025
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2025.02.016
UR  - https://doi.org/10.1016/j.ajhg.2025.02.016
ER  -

APA

C, G., V, A., G, B., D, C., T, P., M, L., M, G., U, S., C, F., RJ, L., C, R., JM, D., V, K., JA, M., A, B., M, W., GE, V., EM, E., KL, P., K, B., M, S., A, N., MC, D., G, M., MCA, R., G, P., R, K., S, G., L, H., D, S., I, B., K, S., O, K., J, H., Genomics, U. O. W. C. F. M., P, B., PD, W., G, M., K, C., JM, G., S, G., O, B., T, S., AL, B., O, P., JR, B., TY, T., NB, T., S, L., T, B., C, G., J, A., & CT, G. (2025). Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2025.02.016

Source records

pubmed · retrieved 2026-09-27T13:18:37.375Z