Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

R Acuna-Hidalgo; P Deriziotis; M Steehouwer; C Gilissen; SA Graham; S van Dam; J Hoover-Fong; AB Telegrafi; A Destree; R Smigiel; LA Lambie; H Kayserili; U Altunoglu; E Lapi; ML Uzielli; M Aracena; BG Nur; E Mihci; LMA Moreira; VB Ferreira; D D G Horovitz; KM da Rocha; A Jezela-Stanek; Alice Brooks; H Reutter; JS Cohen; A Fatemi; M Smitka; TA Grebe; N Di Donato; C Deshpande; A Vandersteen; CM Lourenco; A Dufke; E Rossier; G Andre; A Baumer; C Spencer; J McGaughran; L Franke; JA Veltman; BBA de Vries; A Schinzel; SE Fisher; A Hoischen; BW van Bon

doi:10.1371/journal.pgen.1006683

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

R Acuna-Hidalgo, P Deriziotis, M Steehouwer, C Gilissen, SA Graham, S van Dam, J Hoover-Fong, AB Telegrafi, A Destree, R Smigiel, LA Lambie, H Kayserili, U Altunoglu, E Lapi, ML Uzielli, M Aracena, BG Nur, E Mihci, LMA Moreira, VB FerreiraD D G Horovitz, KM da Rocha, A Jezela-Stanek, Alice Brooks, H Reutter, JS Cohen, A Fatemi, M Smitka, TA Grebe, N Di Donato, C Deshpande, A Vandersteen, CM Lourenco, A Dufke, E Rossier, G Andre, A Baumer, C Spencer, J McGaughran, L Franke, JA Veltman, BBA de Vries, A Schinzel, SE Fisher, A Hoischen, BW van Bon

Clinical Genetics

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

22 Citations (Scopus)

4 Downloads (Pure)

Original language	Undefined/Unknown
Article number	e1006683
Journal	PLoS Genetics (online)
Volume	13
Issue number	3
DOIs	https://doi.org/10.1371/journal.pgen.1006683
Publication status	Published - 2017

Access to Document

10.1371/journal.pgen.1006683

REPUB_98994_OA.pdfFinal published version, 2.26 MB

http://hdl.handle.net/1765/98994

Cite this

Acuna-Hidalgo, R., Deriziotis, P., Steehouwer, M., Gilissen, C., Graham, SA., van Dam, S., Hoover-Fong, J., Telegrafi, AB., Destree, A., Smigiel, R., Lambie, LA., Kayserili, H., Altunoglu, U., Lapi, E., Uzielli, ML., Aracena, M., Nur, BG., Mihci, E., Moreira, LMA., ... van Bon, BW. (2017). Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. PLoS Genetics (online), 13(3), [e1006683]. https://doi.org/10.1371/journal.pgen.1006683

@article{4d6d202ffecd4178af24e55bdcce74ca,

title = "Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies",

author = "R Acuna-Hidalgo and P Deriziotis and M Steehouwer and C Gilissen and SA Graham and {van Dam}, S and J Hoover-Fong and AB Telegrafi and A Destree and R Smigiel and LA Lambie and H Kayserili and U Altunoglu and E Lapi and ML Uzielli and M Aracena and BG Nur and E Mihci and LMA Moreira and VB Ferreira and Horovitz, {D D G} and {da Rocha}, KM and A Jezela-Stanek and Alice Brooks and H Reutter and JS Cohen and A Fatemi and M Smitka and TA Grebe and {Di Donato}, N and C Deshpande and A Vandersteen and CM Lourenco and A Dufke and E Rossier and G Andre and A Baumer and C Spencer and J McGaughran and L Franke and JA Veltman and {de Vries}, BBA and A Schinzel and SE Fisher and A Hoischen and {van Bon}, BW",

year = "2017",

doi = "10.1371/journal.pgen.1006683",

language = "Undefined/Unknown",

volume = "13",

journal = "PLoS Genetics",

issn = "1553-7390",

publisher = "Public Library of Science",

number = "3",

}

Acuna-Hidalgo, R, Deriziotis, P, Steehouwer, M, Gilissen, C, Graham, SA, van Dam, S, Hoover-Fong, J, Telegrafi, AB, Destree, A, Smigiel, R, Lambie, LA, Kayserili, H, Altunoglu, U, Lapi, E, Uzielli, ML, Aracena, M, Nur, BG, Mihci, E, Moreira, LMA, Ferreira, VB, Horovitz, DDG, da Rocha, KM, Jezela-Stanek, A, Brooks, A, Reutter, H, Cohen, JS, Fatemi, A, Smitka, M, Grebe, TA, Di Donato, N, Deshpande, C, Vandersteen, A, Lourenco, CM, Dufke, A, Rossier, E, Andre, G, Baumer, A, Spencer, C, McGaughran, J, Franke, L, Veltman, JA, de Vries, BBA, Schinzel, A, Fisher, SE, Hoischen, A & van Bon, BW 2017, 'Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies', PLoS Genetics (online), vol. 13, no. 3, e1006683. https://doi.org/10.1371/journal.pgen.1006683

TY - JOUR

T1 - Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

AU - Acuna-Hidalgo, R

AU - Deriziotis, P

AU - Steehouwer, M

AU - Gilissen, C

AU - Graham, SA

AU - van Dam, S

AU - Hoover-Fong, J

AU - Telegrafi, AB

AU - Destree, A

AU - Smigiel, R

AU - Lambie, LA

AU - Kayserili, H

AU - Altunoglu, U

AU - Lapi, E

AU - Uzielli, ML

AU - Aracena, M

AU - Nur, BG

AU - Mihci, E

AU - Moreira, LMA

AU - Ferreira, VB

AU - Horovitz, D D G

AU - da Rocha, KM

AU - Jezela-Stanek, A

AU - Brooks, Alice

AU - Reutter, H

AU - Cohen, JS

AU - Fatemi, A

AU - Smitka, M

AU - Grebe, TA

AU - Di Donato, N

AU - Deshpande, C

AU - Vandersteen, A

AU - Lourenco, CM

AU - Dufke, A

AU - Rossier, E

AU - Andre, G

AU - Baumer, A

AU - Spencer, C

AU - McGaughran, J

AU - Franke, L

AU - Veltman, JA

AU - de Vries, BBA

AU - Schinzel, A

AU - Fisher, SE

AU - Hoischen, A

AU - van Bon, BW

PY - 2017

Y1 - 2017

U2 - 10.1371/journal.pgen.1006683

DO - 10.1371/journal.pgen.1006683

M3 - Article

VL - 13

JO - PLoS Genetics

JF - PLoS Genetics

SN - 1553-7390

IS - 3

M1 - e1006683

ER -