Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A, Deciphering Developmental Disorders (DDD) Study, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH

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DOI
10.1016/j.ajhg.2019.03.021
Published
2019 Jun 6
Container
American journal of human genetics
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1016/j.ajhg.2019.03.021,
  title = {Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.},
  author = {O'Donnell-Luria AH and Pais LS and Faundes V and Wood JC and Sveden A and Luria V and Abou Jamra R and Accogli A and Amburgey K and Anderlid BM and Azzarello-Burri S and Basinger AA and Bianchini C and Bird LM and Buchert R and Carre W and Ceulemans S and Charles P and Cox H and Culliton L and Currò A and Deciphering Developmental Disorders (DDD) Study and Demurger F and Dowling JJ and Duban-Bedu B and Dubourg C and Eiset SE and Escobar LF and Ferrarini A and Haack TB and Hashim M and Heide S and Helbig KL and Helbig I and Heredia R and Héron D and Isidor B and Jonasson AR and Joset P and Keren B and Kok F and Kroes HY and Lavillaureix A and Lu X and Maas SM and Maegawa GHB and Marcelis CLM and Mark PR and Masruha MR and McLaughlin HM and McWalter K and Melchinger EU and Mercimek-Andrews S and Nava C and Pendziwiat M and Person R and Ramelli GP and Ramos LLP and Rauch A and Reavey C and Renieri A and Rieß A and Sanchez-Valle A and Sattar S and Saunders C and Schwarz N and Smol T and Srour M and Steindl K and Syrbe S and Taylor JC and Telegrafi A and Thiffault I and Trauner DA and van der Linden H Jr and van Koningsbruggen S and Villard L and Vogel I and Vogt J and Weber YG and Wentzensen IM and Widjaja E and Zak J and Baxter S and Banka S and Rodan LH},
  year = {2019},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2019.03.021},
  url = {https://doi.org/10.1016/j.ajhg.2019.03.021}
}

RIS

TY  - JOUR
TI  - Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
AU  - O'Donnell-Luria AH
AU  - Pais LS
AU  - Faundes V
AU  - Wood JC
AU  - Sveden A
AU  - Luria V
AU  - Abou Jamra R
AU  - Accogli A
AU  - Amburgey K
AU  - Anderlid BM
AU  - Azzarello-Burri S
AU  - Basinger AA
AU  - Bianchini C
AU  - Bird LM
AU  - Buchert R
AU  - Carre W
AU  - Ceulemans S
AU  - Charles P
AU  - Cox H
AU  - Culliton L
AU  - Currò A
AU  - Deciphering Developmental Disorders (DDD) Study
AU  - Demurger F
AU  - Dowling JJ
AU  - Duban-Bedu B
AU  - Dubourg C
AU  - Eiset SE
AU  - Escobar LF
AU  - Ferrarini A
AU  - Haack TB
AU  - Hashim M
AU  - Heide S
AU  - Helbig KL
AU  - Helbig I
AU  - Heredia R
AU  - Héron D
AU  - Isidor B
AU  - Jonasson AR
AU  - Joset P
AU  - Keren B
AU  - Kok F
AU  - Kroes HY
AU  - Lavillaureix A
AU  - Lu X
AU  - Maas SM
AU  - Maegawa GHB
AU  - Marcelis CLM
AU  - Mark PR
AU  - Masruha MR
AU  - McLaughlin HM
AU  - McWalter K
AU  - Melchinger EU
AU  - Mercimek-Andrews S
AU  - Nava C
AU  - Pendziwiat M
AU  - Person R
AU  - Ramelli GP
AU  - Ramos LLP
AU  - Rauch A
AU  - Reavey C
AU  - Renieri A
AU  - Rieß A
AU  - Sanchez-Valle A
AU  - Sattar S
AU  - Saunders C
AU  - Schwarz N
AU  - Smol T
AU  - Srour M
AU  - Steindl K
AU  - Syrbe S
AU  - Taylor JC
AU  - Telegrafi A
AU  - Thiffault I
AU  - Trauner DA
AU  - van der Linden H Jr
AU  - van Koningsbruggen S
AU  - Villard L
AU  - Vogel I
AU  - Vogt J
AU  - Weber YG
AU  - Wentzensen IM
AU  - Widjaja E
AU  - Zak J
AU  - Baxter S
AU  - Banka S
AU  - Rodan LH
PY  - 2019
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2019.03.021
UR  - https://doi.org/10.1016/j.ajhg.2019.03.021
ER  -

APA

AH, O., LS, P., V, F., JC, W., A, S., V, L., R, A. J., A, A., K, A., BM, A., S, A., AA, B., C, B., LM, B., R, B., W, C., S, C., P, C., H, C., L, C., A, C., Study, D. D. D. (., F, D., JJ, D., B, D., C, D., SE, E., LF, E., A, F., TB, H., M, H., S, H., KL, H., I, H., R, H., D, H., B, I., AR, J., P, J., B, K., F, K., HY, K., A, L., X, L., SM, M., GHB, M., CLM, M., PR, M., MR, M., HM, M., K, M., EU, M., S, M., C, N., M, P., R, P., GP, R., LLP, R., A, R., C, R., A, R., A, R., A, S., S, S., C, S., N, S., T, S., M, S., K, S., S, S., JC, T., A, T., I, T., DA, T., Jr, V. D. L. H., S, V. K., L, V., I, V., J, V., YG, W., IM, W., E, W., J, Z., S, B., S, B., & LH, R. (2019). Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2019.03.021

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