De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Lessel D, Schob C, Küry S, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, Besnard T, Cogné B, Revah-Politi A, Strom TM, Rosenfeld JA, Yang Y, Posey JE, Immken L, Oundjian N, Helbig KL, Meeks N, Zegar K, Morton J, DDD study, Schieving JH, Claasen A, Huentelman M, Narayanan V, Ramsey K, C4RCD Research Group, Brunner HG, Elpeleg O, Mercier S, Bézieau S, Kubisch C, Kleefstra T, Kindler S, Lupski JR, Kreienkamp HJ

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DOI: 10.1016/j.ajhg.2017.09.014
Published: 2017 Nov 2
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.2017.09.014,
  title = {De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.},
  author = {Lessel D and Schob C and Küry S and Reijnders MRF and Harel T and Eldomery MK and Coban-Akdemir Z and Denecke J and Edvardson S and Colin E and Stegmann APA and Gerkes EH and Tessarech M and Bonneau D and Barth M and Besnard T and Cogné B and Revah-Politi A and Strom TM and Rosenfeld JA and Yang Y and Posey JE and Immken L and Oundjian N and Helbig KL and Meeks N and Zegar K and Morton J and DDD study and Schieving JH and Claasen A and Huentelman M and Narayanan V and Ramsey K and C4RCD Research Group and Brunner HG and Elpeleg O and Mercier S and Bézieau S and Kubisch C and Kleefstra T and Kindler S and Lupski JR and Kreienkamp HJ},
  year = {2017},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2017.09.014},
  url = {https://doi.org/10.1016/j.ajhg.2017.09.014}
}

RIS

TY  - JOUR
TI  - De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
AU  - Lessel D
AU  - Schob C
AU  - Küry S
AU  - Reijnders MRF
AU  - Harel T
AU  - Eldomery MK
AU  - Coban-Akdemir Z
AU  - Denecke J
AU  - Edvardson S
AU  - Colin E
AU  - Stegmann APA
AU  - Gerkes EH
AU  - Tessarech M
AU  - Bonneau D
AU  - Barth M
AU  - Besnard T
AU  - Cogné B
AU  - Revah-Politi A
AU  - Strom TM
AU  - Rosenfeld JA
AU  - Yang Y
AU  - Posey JE
AU  - Immken L
AU  - Oundjian N
AU  - Helbig KL
AU  - Meeks N
AU  - Zegar K
AU  - Morton J
AU  - DDD study
AU  - Schieving JH
AU  - Claasen A
AU  - Huentelman M
AU  - Narayanan V
AU  - Ramsey K
AU  - C4RCD Research Group
AU  - Brunner HG
AU  - Elpeleg O
AU  - Mercier S
AU  - Bézieau S
AU  - Kubisch C
AU  - Kleefstra T
AU  - Kindler S
AU  - Lupski JR
AU  - Kreienkamp HJ
PY  - 2017
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2017.09.014
UR  - https://doi.org/10.1016/j.ajhg.2017.09.014
ER  -

APA

D, L., C, S., S, K., MRF, R., T, H., MK, E., Z, C., J, D., S, E., E, C., APA, S., EH, G., M, T., D, B., M, B., T, B., B, C., A, R., TM, S., JA, R., Y, Y., JE, P., L, I., N, O., KL, H., N, M., K, Z., J, M., study, D., JH, S., A, C., M, H., V, N., K, R., Group, C. R., HG, B., O, E., S, M., S, B., C, K., T, K., S, K., JR, L., & HJ, K. (2017). De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2017.09.014

Source records

pubmed · retrieved 2026-09-26T06:00:13.682Z