Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.

Whalen S, Shaw M, Mignot C, Héron D, Bastaraud SC, Walti CC, Liebelt J, Elmslie F, Yap P, Hurst J, Forsythe E, Kirmse B, Ozmore J, Spinelli AM, Calabrese O, de Villemeur TB, Tabet AC, Levy J, Guet A, Kossorotoff M, Kamien B, Morton J, McCabe A, Brischoux-Boucher E, Raas-Rothschild A, Pini A, Carroll R, Hartley JN, Care4Rare Canada Consortium, Frosk P, Slavotinek A, Truxal K, Jennifer C, Dheedene A, Cui H, Kumar V, Thomson G, Riccardi F, Gecz J, Villard L.

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DOI: 10.1038/s41431-021-00821-0
Published: 2021-02-18
Container: Eur J Hum Genet
Publisher: Not recorded
Open access: no

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Cite this work

BibTeX

@article{allodium:10.1038/s41431-021-00821-0,
  title = {Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.},
  author = {Whalen S and  Shaw M and  Mignot C and  Héron D and  Bastaraud SC and  Walti CC and  Liebelt J and  Elmslie F and  Yap P and  Hurst J and  Forsythe E and  Kirmse B and  Ozmore J and  Spinelli AM and  Calabrese O and  de Villemeur TB and  Tabet AC and  Levy J and  Guet A and  Kossorotoff M and  Kamien B and  Morton J and  McCabe A and  Brischoux-Boucher E and  Raas-Rothschild A and  Pini A and  Carroll R and  Hartley JN and  Care4Rare Canada Consortium and  Frosk P and  Slavotinek A and  Truxal K and  Jennifer C and  Dheedene A and  Cui H and  Kumar V and  Thomson G and  Riccardi F and  Gecz J and  Villard L.},
  year = {2021},
  journal = {Eur J Hum Genet},
  doi = {10.1038/s41431-021-00821-0},
  url = {https://doi.org/10.1038/s41431-021-00821-0}
}

RIS

TY  - JOUR
TI  - Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
AU  - Whalen S
AU  -  Shaw M
AU  -  Mignot C
AU  -  Héron D
AU  -  Bastaraud SC
AU  -  Walti CC
AU  -  Liebelt J
AU  -  Elmslie F
AU  -  Yap P
AU  -  Hurst J
AU  -  Forsythe E
AU  -  Kirmse B
AU  -  Ozmore J
AU  -  Spinelli AM
AU  -  Calabrese O
AU  -  de Villemeur TB
AU  -  Tabet AC
AU  -  Levy J
AU  -  Guet A
AU  -  Kossorotoff M
AU  -  Kamien B
AU  -  Morton J
AU  -  McCabe A
AU  -  Brischoux-Boucher E
AU  -  Raas-Rothschild A
AU  -  Pini A
AU  -  Carroll R
AU  -  Hartley JN
AU  -  Care4Rare Canada Consortium
AU  -  Frosk P
AU  -  Slavotinek A
AU  -  Truxal K
AU  -  Jennifer C
AU  -  Dheedene A
AU  -  Cui H
AU  -  Kumar V
AU  -  Thomson G
AU  -  Riccardi F
AU  -  Gecz J
AU  -  Villard L.
PY  - 2021
JO  - Eur J Hum Genet
DO  - 10.1038/s41431-021-00821-0
UR  - https://doi.org/10.1038/s41431-021-00821-0
ER  -

APA

S, W., M, S., C, M., D, H., SC, B., CC, W., J, L., F, E., P, Y., J, H., E, F., B, K., J, O., AM, S., O, C., TB, D. V., AC, T., J, L., A, G., M, K., B, K., J, M., A, M., E, B., A, R., A, P., R, C., JN, H., Consortium, C. C., P, F., A, S., K, T., C, J., A, D., H, C., V, K., G, T., F, R., J, G., & L., V. (2021). Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.. Eur J Hum Genet. https://doi.org/10.1038/s41431-021-00821-0

Source records

europe-pmc · retrieved 2026-09-26T10:39:35.474Z