De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

E Calpena; A Hervieu; T Kaserer; Sigrid Swagemakers; Jacqueline Goos; O Popoola; MJ Ortiz-Ruiz; T Barbaro-Dieber; L Bownass; EH Brilstra; E Brimble; N Foulds; TA Grebe; AVE Harder; MM Lees; K G Monaghan; RA Newbury-Ecob; KR Ong; D Osio; FJR Santos; MRZ Ruzhnikov; A Telegrafi; E van Binsbergen; Marieke van Dooren; Peter van der Spek; J Blagg; SRF Twigg; Irene Mathijssen; PA Clarke; AOM Wilkie

doi:10.1016/j.ajhg.2019.02.006

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

E Calpena, A Hervieu, T Kaserer, Sigrid Swagemakers, Jacqueline Goos, O Popoola, MJ Ortiz-Ruiz, T Barbaro-Dieber, L Bownass, EH Brilstra, E Brimble, N Foulds, TA Grebe, AVE Harder, MM Lees, K G Monaghan, RA Newbury-Ecob, KR Ong, D Osio, FJR SantosMRZ Ruzhnikov, A Telegrafi, E van Binsbergen, Marieke van Dooren, Peter van der Spek, J Blagg, SRF Twigg, Irene Mathijssen, PA Clarke, AOM Wilkie

Research output: Contribution to journal › Article › Academic › peer-review

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Original language	Undefined/Unknown
Pages (from-to)	709-720
Number of pages	12
Journal	American Journal of Human Genetics
Volume	104
Issue number	4
DOIs	https://doi.org/10.1016/j.ajhg.2019.02.006
Publication status	Published - 2019

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EMC MM-03-24-01

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10.1016/j.ajhg.2019.02.006

RePub-116335-OA.pdfFinal published version, 2.89 MB

http://hdl.handle.net/1765/116335

Cite this

Calpena, E., Hervieu, A., Kaserer, T., Swagemakers, S., Goos, J., Popoola, O., Ortiz-Ruiz, MJ., Barbaro-Dieber, T., Bownass, L., Brilstra, EH., Brimble, E., Foulds, N., Grebe, TA., Harder, AVE., Lees, MM., Monaghan, K. G., Newbury-Ecob, RA., Ong, KR., Osio, D., ... Wilkie, AOM. (2019). De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. American Journal of Human Genetics, 104(4), 709-720. https://doi.org/10.1016/j.ajhg.2019.02.006

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title = "De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder",

author = "E Calpena and A Hervieu and T Kaserer and Sigrid Swagemakers and Jacqueline Goos and O Popoola and MJ Ortiz-Ruiz and T Barbaro-Dieber and L Bownass and EH Brilstra and E Brimble and N Foulds and TA Grebe and AVE Harder and MM Lees and Monaghan, {K G} and RA Newbury-Ecob and KR Ong and D Osio and FJR Santos and MRZ Ruzhnikov and A Telegrafi and {van Binsbergen}, E and {van Dooren}, Marieke and {van der Spek}, Peter and J Blagg and SRF Twigg and Irene Mathijssen and PA Clarke and AOM Wilkie",

year = "2019",

doi = "10.1016/j.ajhg.2019.02.006",

language = "Undefined/Unknown",

volume = "104",

pages = "709--720",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

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Calpena, E, Hervieu, A, Kaserer, T, Swagemakers, S , Goos, J, Popoola, O, Ortiz-Ruiz, MJ, Barbaro-Dieber, T, Bownass, L, Brilstra, EH, Brimble, E, Foulds, N, Grebe, TA, Harder, AVE, Lees, MM, Monaghan, KG, Newbury-Ecob, RA, Ong, KR, Osio, D, Santos, FJR, Ruzhnikov, MRZ, Telegrafi, A, van Binsbergen, E, van Dooren, M , van der Spek, P, Blagg, J, Twigg, SRF, Mathijssen, I, Clarke, PA & Wilkie, AOM 2019, 'De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder', American Journal of Human Genetics, vol. 104, no. 4, pp. 709-720. https://doi.org/10.1016/j.ajhg.2019.02.006

TY - JOUR

T1 - De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

AU - Calpena, E

AU - Hervieu, A

AU - Kaserer, T

AU - Swagemakers, Sigrid

AU - Goos, Jacqueline

AU - Popoola, O

AU - Ortiz-Ruiz, MJ

AU - Barbaro-Dieber, T

AU - Bownass, L

AU - Brilstra, EH

AU - Brimble, E

AU - Foulds, N

AU - Grebe, TA

AU - Harder, AVE

AU - Lees, MM

AU - Monaghan, K G

AU - Newbury-Ecob, RA

AU - Ong, KR

AU - Osio, D

AU - Santos, FJR

AU - Ruzhnikov, MRZ

AU - Telegrafi, A

AU - van Binsbergen, E

AU - van Dooren, Marieke

AU - van der Spek, Peter

AU - Blagg, J

AU - Twigg, SRF

AU - Mathijssen, Irene

AU - Clarke, PA

AU - Wilkie, AOM

PY - 2019

Y1 - 2019

U2 - 10.1016/j.ajhg.2019.02.006

DO - 10.1016/j.ajhg.2019.02.006

M3 - Article

C2 - 30905399

SN - 0002-9297

VL - 104

SP - 709

EP - 720

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 4

ER -