De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

HA Haijes; MJE Koster; H Rehmann; D Li; H Hakonarson; G Cappuccio; M Hancarova; D Lehalle; W Reardon; G B Schaefer; A Lehman; Ingrid De Graaf - van de Laar; CD Tesselaar; C Turner; A Goldenberg; S Patrier; J Thevenon; M Pinelli; N Brunetti-Pierri; D Prchalova; M Havlovicova; M Vlckova; Z Sedlacek; E Lopez; V Ragoussis; AT Pagnamenta; U Kini; HR Vos; RM van Es; R Schaik; TAJ van Essen; M Kibaek; JC Taylor; J Sullivan; V Shashi; S Petrovski; C Fagerberg; DM Martin; K L I van Gassen; R Pfundt; MJ Falk; E M McCormick; HTM Timmers; PM van Hasselt

doi:10.1016/j.ajhg.2019.06.016

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

HA Haijes
, MJE Koster
, H Rehmann
, D Li
, H Hakonarson
, G Cappuccio
, M Hancarova
, D Lehalle
, W Reardon
, G B Schaefer
, A Lehman
, Ingrid De Graaf - van de Laar
, CD Tesselaar
, C Turner
, A Goldenberg
, S Patrier
, J Thevenon
, M Pinelli
, N Brunetti-Pierri
, D Prchalova

M Havlovicova, M Vlckova, Z Sedlacek, E Lopez, V Ragoussis, AT Pagnamenta, U Kini, HR Vos, RM van Es, R Schaik, TAJ van Essen, M Kibaek, JC Taylor, J Sullivan, V Shashi, S Petrovski, C Fagerberg, DM Martin, K L I van Gassen, R Pfundt, MJ Falk, E M McCormick, HTM Timmers, PM van Hasselt

Clinical Genetics

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

53 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	283-301
Number of pages	19
Journal	American Journal of Human Genetics
Volume	105
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2019.06.016
Publication status	Published - 2019

Research programs

EMC OR-01

Access to Document

10.1016/j.ajhg.2019.06.016

http://hdl.handle.net/1765/118494

Cite this

Haijes, HA., Koster, MJE., Rehmann, H., Li, D., Hakonarson, H., Cappuccio, G., Hancarova, M., Lehalle, D., Reardon, W., Schaefer, G. B., Lehman, A., De Graaf - van de Laar, I., Tesselaar, CD., Turner, C., Goldenberg, A., Patrier, S., Thevenon, J., Pinelli, M., Brunetti-Pierri, N., ... van Hasselt, PM. (2019). De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. American Journal of Human Genetics, 105(2), 283-301. https://doi.org/10.1016/j.ajhg.2019.06.016

@article{5ecb9217cdd549be8eb35af7b8bc4b06,

title = "De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia",

author = "HA Haijes and MJE Koster and H Rehmann and D Li and H Hakonarson and G Cappuccio and M Hancarova and D Lehalle and W Reardon and Schaefer, \{G B\} and A Lehman and \{De Graaf - van de Laar\}, Ingrid and CD Tesselaar and C Turner and A Goldenberg and S Patrier and J Thevenon and M Pinelli and N Brunetti-Pierri and D Prchalova and M Havlovicova and M Vlckova and Z Sedlacek and E Lopez and V Ragoussis and AT Pagnamenta and U Kini and HR Vos and \{van Es\}, RM and R Schaik and \{van Essen\}, TAJ and M Kibaek and JC Taylor and J Sullivan and V Shashi and S Petrovski and C Fagerberg and DM Martin and \{van Gassen\}, \{K L I\} and R Pfundt and MJ Falk and McCormick, \{E M\} and HTM Timmers and \{van Hasselt\}, PM",

year = "2019",

doi = "10.1016/j.ajhg.2019.06.016",

language = "Undefined/Unknown",

volume = "105",

pages = "283--301",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "2",

}

Haijes, HA, Koster, MJE, Rehmann, H, Li, D, Hakonarson, H, Cappuccio, G, Hancarova, M, Lehalle, D, Reardon, W, Schaefer, GB, Lehman, A, De Graaf - van de Laar, I, Tesselaar, CD, Turner, C, Goldenberg, A, Patrier, S, Thevenon, J, Pinelli, M, Brunetti-Pierri, N, Prchalova, D, Havlovicova, M, Vlckova, M, Sedlacek, Z, Lopez, E, Ragoussis, V, Pagnamenta, AT, Kini, U, Vos, HR, van Es, RM, Schaik, R, van Essen, TAJ, Kibaek, M, Taylor, JC, Sullivan, J, Shashi, V, Petrovski, S, Fagerberg, C, Martin, DM, van Gassen, KLI, Pfundt, R, Falk, MJ, McCormick, EM, Timmers, HTM & van Hasselt, PM 2019, 'De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia', American Journal of Human Genetics, vol. 105, no. 2, pp. 283-301. https://doi.org/10.1016/j.ajhg.2019.06.016

TY - JOUR

T1 - De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

AU - Haijes, HA

AU - Koster, MJE

AU - Rehmann, H

AU - Li, D

AU - Hakonarson, H

AU - Cappuccio, G

AU - Hancarova, M

AU - Lehalle, D

AU - Reardon, W

AU - Schaefer, G B

AU - Lehman, A

AU - De Graaf - van de Laar, Ingrid

AU - Tesselaar, CD

AU - Turner, C

AU - Goldenberg, A

AU - Patrier, S

AU - Thevenon, J

AU - Pinelli, M

AU - Brunetti-Pierri, N

AU - Prchalova, D

AU - Havlovicova, M

AU - Vlckova, M

AU - Sedlacek, Z

AU - Lopez, E

AU - Ragoussis, V

AU - Pagnamenta, AT

AU - Kini, U

AU - Vos, HR

AU - van Es, RM

AU - Schaik, R

AU - van Essen, TAJ

AU - Kibaek, M

AU - Taylor, JC

AU - Sullivan, J

AU - Shashi, V

AU - Petrovski, S

AU - Fagerberg, C

AU - Martin, DM

AU - van Gassen, K L I

AU - Pfundt, R

AU - Falk, MJ

AU - McCormick, E M

AU - Timmers, HTM

AU - van Hasselt, PM

PY - 2019

Y1 - 2019

U2 - 10.1016/j.ajhg.2019.06.016

DO - 10.1016/j.ajhg.2019.06.016

M3 - Article

C2 - 31353023

SN - 0002-9297

VL - 105

SP - 283

EP - 301

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 2

ER -