Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

Jonas Straub; Enrico D. H. Konrad; Johanna Gruner; Annick Toutain; Levinus A. Bok; Megan T. Cho; Heather P. Crawford; Holly Dubbs; Ganka Douglas; Rebekah Jobling; Diana Johnson; Bryan Krock; Mohamad A. Mikati; Addie Nesbitt; Joost Nicolai; Meredith Phillips; Annapurna Poduri; Xilma R. Ortiz-Gonzalez; Zoe Powis; Avni Santani; Lacey Smith; Alexander P. A. Stegmann; Constance Stumpel; Maaike Vreeburg; Anna Fliedner; Anne Gregor; Heinrich Sticht; Christiane Zweier; Deciphering Dev Disorders Study

doi:10.1016/j.ajhg.2017.11.008

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

Jonas Straub, Enrico D. H. Konrad, Johanna Gruner, Annick Toutain, Levinus A. Bok, Megan T. Cho, Heather P. Crawford, Holly Dubbs, Ganka Douglas, Rebekah Jobling, Diana Johnson, Bryan Krock, Mohamad A. Mikati, Addie Nesbitt, Joost Nicolai, Meredith Phillips, Annapurna Poduri, Xilma R. Ortiz-Gonzalez, Zoe Powis, Avni SantaniLacey Smith, Alexander P. A. Stegmann, Constance Stumpel, Maaike Vreeburg, Anna Fliedner, Anne Gregor, Heinrich Sticht, Christiane Zweier, Deciphering Dev Disorders Study

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

Original language	English
Pages (from-to)	44-57
Number of pages	14
Journal	American Journal of Human Genetics
Volume	102
Issue number	1
DOIs	https://doi.org/10.1016/j.ajhg.2017.11.008
Publication status	Published - 4 Jan 2018

Keywords

SENSITIVE PARALYTIC MUTANTS
AUTISM SPECTRUM DISORDERS
UBIQUITIN LIGASE COMPLEX
DE-NOVO MUTATIONS
INTELLECTUAL DISABILITY
MENTAL-RETARDATION
SPINE MORPHOGENESIS
TUMOR-SUPPRESSOR
BREAST-CANCER
RHO-GTPASES

Access to Document

10.1016/j.ajhg.2017.11.008

Cite this

Straub, J., Konrad, E. D. H., Gruner, J., Toutain, A., Bok, L. A., Cho, M. T., Crawford, H. P., Dubbs, H., Douglas, G., Jobling, R., Johnson, D., Krock, B., Mikati, M. A., Nesbitt, A., Nicolai, J., Phillips, M., Poduri, A., Ortiz-Gonzalez, X. R., Powis, Z., ... Deciphering Dev Disorders Study (2018). Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. American Journal of Human Genetics, 102(1), 44-57. https://doi.org/10.1016/j.ajhg.2017.11.008

Straub, Jonas ; Konrad, Enrico D. H. ; Gruner, Johanna ; Toutain, Annick ; Bok, Levinus A. ; Cho, Megan T. ; Crawford, Heather P. ; Dubbs, Holly ; Douglas, Ganka ; Jobling, Rebekah ; Johnson, Diana ; Krock, Bryan ; Mikati, Mohamad A. ; Nesbitt, Addie ; Nicolai, Joost ; Phillips, Meredith ; Poduri, Annapurna ; Ortiz-Gonzalez, Xilma R. ; Powis, Zoe ; Santani, Avni ; Smith, Lacey ; Stegmann, Alexander P. A. ; Stumpel, Constance ; Vreeburg, Maaike ; Fliedner, Anna ; Gregor, Anne ; Sticht, Heinrich ; Zweier, Christiane ; Deciphering Dev Disorders Study. / Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. In: American Journal of Human Genetics. 2018 ; Vol. 102, No. 1. pp. 44-57.

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title = "Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila",

keywords = "SENSITIVE PARALYTIC MUTANTS, AUTISM SPECTRUM DISORDERS, UBIQUITIN LIGASE COMPLEX, DE-NOVO MUTATIONS, INTELLECTUAL DISABILITY, MENTAL-RETARDATION, SPINE MORPHOGENESIS, TUMOR-SUPPRESSOR, BREAST-CANCER, RHO-GTPASES",

author = "Jonas Straub and Konrad, {Enrico D. H.} and Johanna Gruner and Annick Toutain and Bok, {Levinus A.} and Cho, {Megan T.} and Crawford, {Heather P.} and Holly Dubbs and Ganka Douglas and Rebekah Jobling and Diana Johnson and Bryan Krock and Mikati, {Mohamad A.} and Addie Nesbitt and Joost Nicolai and Meredith Phillips and Annapurna Poduri and Ortiz-Gonzalez, {Xilma R.} and Zoe Powis and Avni Santani and Lacey Smith and Stegmann, {Alexander P. A.} and Constance Stumpel and Maaike Vreeburg and Anna Fliedner and Anne Gregor and Heinrich Sticht and Christiane Zweier and {Deciphering Dev Disorders Study}",

year = "2018",

month = jan,

day = "4",

doi = "10.1016/j.ajhg.2017.11.008",

language = "English",

volume = "102",

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journal = "American Journal of Human Genetics",

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Straub, J, Konrad, EDH, Gruner, J, Toutain, A, Bok, LA, Cho, MT, Crawford, HP, Dubbs, H, Douglas, G, Jobling, R, Johnson, D, Krock, B, Mikati, MA, Nesbitt, A, Nicolai, J, Phillips, M, Poduri, A, Ortiz-Gonzalez, XR, Powis, Z, Santani, A, Smith, L, Stegmann, APA , Stumpel, C , Vreeburg, M, Fliedner, A, Gregor, A, Sticht, H, Zweier, C & Deciphering Dev Disorders Study 2018, 'Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila', American Journal of Human Genetics, vol. 102, no. 1, pp. 44-57. https://doi.org/10.1016/j.ajhg.2017.11.008

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. / Straub, Jonas; Konrad, Enrico D. H.; Gruner, Johanna; Toutain, Annick; Bok, Levinus A.; Cho, Megan T.; Crawford, Heather P.; Dubbs, Holly; Douglas, Ganka; Jobling, Rebekah; Johnson, Diana; Krock, Bryan; Mikati, Mohamad A.; Nesbitt, Addie; Nicolai, Joost; Phillips, Meredith; Poduri, Annapurna; Ortiz-Gonzalez, Xilma R.; Powis, Zoe; Santani, Avni; Smith, Lacey; Stegmann, Alexander P. A.; Stumpel, Constance ; Vreeburg, Maaike; Fliedner, Anna; Gregor, Anne; Sticht, Heinrich; Zweier, Christiane; Deciphering Dev Disorders Study.

In: American Journal of Human Genetics, Vol. 102, No. 1, 04.01.2018, p. 44-57.

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

TY - JOUR

T1 - Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

AU - Straub, Jonas

AU - Konrad, Enrico D. H.

AU - Gruner, Johanna

AU - Toutain, Annick

AU - Bok, Levinus A.

AU - Cho, Megan T.

AU - Crawford, Heather P.

AU - Dubbs, Holly

AU - Douglas, Ganka

AU - Jobling, Rebekah

AU - Johnson, Diana

AU - Krock, Bryan

AU - Mikati, Mohamad A.

AU - Nesbitt, Addie

AU - Nicolai, Joost

AU - Phillips, Meredith

AU - Poduri, Annapurna

AU - Ortiz-Gonzalez, Xilma R.

AU - Powis, Zoe

AU - Santani, Avni

AU - Smith, Lacey

AU - Stegmann, Alexander P. A.

AU - Stumpel, Constance

AU - Vreeburg, Maaike

AU - Fliedner, Anna

AU - Gregor, Anne

AU - Sticht, Heinrich

AU - Zweier, Christiane

AU - Deciphering Dev Disorders Study

PY - 2018/1/4

Y1 - 2018/1/4

KW - SENSITIVE PARALYTIC MUTANTS

KW - AUTISM SPECTRUM DISORDERS

KW - UBIQUITIN LIGASE COMPLEX

KW - DE-NOVO MUTATIONS

KW - INTELLECTUAL DISABILITY

KW - MENTAL-RETARDATION

KW - SPINE MORPHOGENESIS

KW - TUMOR-SUPPRESSOR

KW - BREAST-CANCER

KW - RHO-GTPASES

U2 - 10.1016/j.ajhg.2017.11.008

DO - 10.1016/j.ajhg.2017.11.008

M3 - Article

VL - 102

SP - 44

EP - 57

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 1

ER -