De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder (vol 101, pg 716, 2017)

DDD Study; C4RCD Res Grp

doi:10.1016/j.ajhg.2017.12.016

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder (vol 101, pg 716, 2017)

DDD Study
, C4RCD Res Grp

Research output: Contribution to journal › Erratum / corrigendum › Academic

Original language	English
Pages (from-to)	196-196
Number of pages	1
Journal	American Journal of Human Genetics
Volume	102
Issue number	1
DOIs	https://doi.org/10.1016/j.ajhg.2017.12.016
Publication status	Published - 4 Jan 2018

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10.1016/j.ajhg.2017.12.016Licence: Free access - publisher

1 Article

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
Lessel, D., Schob, C., Kuery, S., Reinders, M. R. F., Harel, T., Eldomery, M. K., Coban-Akdemir, Z., Denecke, J., Edvardson, S., Colin, E., Stegmann, A. P. A., Gerkes, E. H., Tessarech, M., Bonneau, D., Barth, M., Besnard, T., Cogne, B., Revah-Politi, A., Strom, T. M. & Rosenfeld, J. A. & 24 others, Yang, Y., Posey, J. E., Immken, L., Oundjian, N., Helbig, K. L., Meeks, N., Zegar, K., Morton, J., Schieving, J. H., Claasen, A., Huentelman, M., Narayanan, V., Ramsey, K., Brunner, H. G., Elpeleg, O., Mercier, S., Bezieau, S., Kubisch, C., Kleefstra, T., Kindler, S., Lupski, J. R., Kreienkamp, H.-J., DDD Study & C4RCD Res Grp, 2 Nov 2017, In: American Journal of Human Genetics. 101, 5, p. 716-724 9 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access

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@article{fff1203f16094fbc8e54415799d23f99,

title = "De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder (vol 101, pg 716, 2017)",

author = "Davor Lessel and Claudia Schob and Sebastien Kury and Reijnders, \{Margot R. F.\} and Tamar Harel and Eldomery, \{Mohammad K.\} and Zeynep Coban-Akdemir and Jonas Denecke and Shimon Edvardson and Estelle Colin and Stegmann, \{Alexander P. A.\} and Gerkes, \{Erica H.\} and Marine Tessarech and Dominique Bonneau and Magalie Barth and Thomas Besnard and Benjamin Cogne and Anya Revah-Politi and Strom, \{Tim M.\} and Rosenfeld, \{Jill A.\} and Yaping Yang and Posey, \{Jennifer E.\} and LaDonna Immken and Nelly Oundjian and Helbig, \{Katherine L.\} and Naomi Meeks and Kelsey Zegar and Jenny Morton and Schieving, \{Jolanda H.\} and Ana Claasen and Matthew Huentelman and Vinodh Narayanan and Keri Ramsey and Brunner, \{Han G.\} and Orly Elpeleg and Sandra Mercier and Stephane Bezieau and Christian Kubisch and Tjitske Kleefstra and Stefan Kindler and Lupski, \{James R.\} and Hans-Jurgen Kreienkamp and \{DDD Study\} and \{C4RCD Res Grp\}",

year = "2018",

month = jan,

day = "4",

doi = "10.1016/j.ajhg.2017.12.016",

language = "English",

volume = "102",

pages = "196--196",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "1",

}

TY - JOUR

T1 - De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder (vol 101, pg 716, 2017)

AU - Lessel, Davor

AU - Schob, Claudia

AU - Kury, Sebastien

AU - Reijnders, Margot R. F.

AU - Harel, Tamar

AU - Eldomery, Mohammad K.

AU - Coban-Akdemir, Zeynep

AU - Denecke, Jonas

AU - Edvardson, Shimon

AU - Colin, Estelle

AU - Stegmann, Alexander P. A.

AU - Gerkes, Erica H.

AU - Tessarech, Marine

AU - Bonneau, Dominique

AU - Barth, Magalie

AU - Besnard, Thomas

AU - Cogne, Benjamin

AU - Revah-Politi, Anya

AU - Strom, Tim M.

AU - Rosenfeld, Jill A.

AU - Yang, Yaping

AU - Posey, Jennifer E.

AU - Immken, LaDonna

AU - Oundjian, Nelly

AU - Helbig, Katherine L.

AU - Meeks, Naomi

AU - Zegar, Kelsey

AU - Morton, Jenny

AU - Schieving, Jolanda H.

AU - Claasen, Ana

AU - Huentelman, Matthew

AU - Narayanan, Vinodh

AU - Ramsey, Keri

AU - Brunner, Han G.

AU - Elpeleg, Orly

AU - Mercier, Sandra

AU - Bezieau, Stephane

AU - Kubisch, Christian

AU - Kleefstra, Tjitske

AU - Kindler, Stefan

AU - Lupski, James R.

AU - Kreienkamp, Hans-Jurgen

AU - DDD Study

AU - C4RCD Res Grp

PY - 2018/1/4

Y1 - 2018/1/4

U2 - 10.1016/j.ajhg.2017.12.016

DO - 10.1016/j.ajhg.2017.12.016

M3 - Erratum / corrigendum

C2 - 29304375

SN - 0002-9297

VL - 102

SP - 196

EP - 196

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 1

ER -