Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

HS Gui; D Schriemer; Wai Cheng; Rajendra Chauhan; G Antinolo; C Berrios; M Bleda; Alice Brooks; Rutger Brouwer; Alan Burns; SS Cherny; J Dopazo; BJL Eggen; P Griseri; B Jalloh; TL Le; VCH Lui; B Luzon-Toro; I Matera; ESW Ngan; A Pelet; M Ruiz-Ferrer; PC Sham; IT Shepherd; MT So; Yunia Sribudiani; CSM Tang; Mirjam Van den Hout - van Vroonhoven; Herma Zondervan - van der Linde; Tjakko van Ham; Wilfred van Ijcken; J Verheij; J Amiel; S Borrego; I Ceccherini; A Chakravarti; S Lyonnet; PKH Tam; MM Garcia-Barcelo; Robert Hofstra

doi:10.1186/s13059-017-1174-6

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

HS Gui
, D Schriemer
, Wai Cheng
, Rajendra Chauhan
, G Antinolo
, C Berrios
, M Bleda
, Alice Brooks
, Rutger Brouwer
, Alan Burns
, SS Cherny
, J Dopazo
, BJL Eggen
, P Griseri
, B Jalloh
, TL Le
, VCH Lui
, B Luzon-Toro
, I Matera
, ESW Ngan

A Pelet, M Ruiz-Ferrer, PC Sham, IT Shepherd, MT So, Yunia Sribudiani, CSM Tang, Mirjam Van den Hout - van Vroonhoven, Herma Zondervan - van der Linde, Tjakko van Ham, Wilfred van Ijcken, J Verheij, J Amiel, S Borrego, I Ceccherini, A Chakravarti, S Lyonnet, PKH Tam, MM Garcia-Barcelo, Robert Hofstra

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

76 Citations (Scopus)

38 Downloads (Pure)

Original language	Undefined/Unknown
Article number	48
Journal	Genome Biology
Volume	18
DOIs	https://doi.org/10.1186/s13059-017-1174-6
Publication status	Published - 2017

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EMC OR-01

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10.1186/s13059-017-1174-6

REPUB_98554_OA.pdfFinal published version, 1.17 MB

http://hdl.handle.net/1765/98554

Cite this

Gui, HS., Schriemer, D., Cheng, W., Chauhan, R., Antinolo, G., Berrios, C., Bleda, M., Brooks, A., Brouwer, R., Burns, A., Cherny, SS., Dopazo, J., Eggen, BJL., Griseri, P., Jalloh, B., Le, TL., Lui, VCH., Luzon-Toro, B., Matera, I., ... Hofstra, R. (2017). Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes. Genome Biology, 18, Article 48. https://doi.org/10.1186/s13059-017-1174-6

@article{b270439a905c416ab13fb85a46b5db60,

title = "Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes",

author = "HS Gui and D Schriemer and Wai Cheng and Rajendra Chauhan and G Antinolo and C Berrios and M Bleda and Alice Brooks and Rutger Brouwer and Alan Burns and SS Cherny and J Dopazo and BJL Eggen and P Griseri and B Jalloh and TL Le and VCH Lui and B Luzon-Toro and I Matera and ESW Ngan and A Pelet and M Ruiz-Ferrer and PC Sham and IT Shepherd and MT So and Yunia Sribudiani and CSM Tang and \{Van den Hout - van Vroonhoven\}, Mirjam and \{Zondervan - van der Linde\}, Herma and \{van Ham\}, Tjakko and \{van Ijcken\}, Wilfred and J Verheij and J Amiel and S Borrego and I Ceccherini and A Chakravarti and S Lyonnet and PKH Tam and MM Garcia-Barcelo and Robert Hofstra",

year = "2017",

doi = "10.1186/s13059-017-1174-6",

language = "Undefined/Unknown",

volume = "18",

journal = "Genome Biology",

issn = "1474-760X",

publisher = "BioMed Central Ltd.",

}

Gui, HS, Schriemer, D, Cheng, W, Chauhan, R, Antinolo, G, Berrios, C, Bleda, M, Brooks, A, Brouwer, R, Burns, A, Cherny, SS, Dopazo, J, Eggen, BJL, Griseri, P, Jalloh, B, Le, TL, Lui, VCH, Luzon-Toro, B, Matera, I, Ngan, ESW, Pelet, A, Ruiz-Ferrer, M, Sham, PC, Shepherd, IT, So, MT, Sribudiani, Y, Tang, CSM, Van den Hout - van Vroonhoven, M, Zondervan - van der Linde, H , van Ham, T, van Ijcken, W, Verheij, J, Amiel, J, Borrego, S, Ceccherini, I, Chakravarti, A, Lyonnet, S, Tam, PKH, Garcia-Barcelo, MM & Hofstra, R 2017, 'Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes', Genome Biology, vol. 18, 48. https://doi.org/10.1186/s13059-017-1174-6

TY - JOUR

T1 - Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

AU - Gui, HS

AU - Schriemer, D

AU - Cheng, Wai

AU - Chauhan, Rajendra

AU - Antinolo, G

AU - Berrios, C

AU - Bleda, M

AU - Brooks, Alice

AU - Brouwer, Rutger

AU - Burns, Alan

AU - Cherny, SS

AU - Dopazo, J

AU - Eggen, BJL

AU - Griseri, P

AU - Jalloh, B

AU - Le, TL

AU - Lui, VCH

AU - Luzon-Toro, B

AU - Matera, I

AU - Ngan, ESW

AU - Pelet, A

AU - Ruiz-Ferrer, M

AU - Sham, PC

AU - Shepherd, IT

AU - So, MT

AU - Sribudiani, Yunia

AU - Tang, CSM

AU - Van den Hout - van Vroonhoven, Mirjam

AU - Zondervan - van der Linde, Herma

AU - van Ham, Tjakko

AU - van Ijcken, Wilfred

AU - Verheij, J

AU - Amiel, J

AU - Borrego, S

AU - Ceccherini, I

AU - Chakravarti, A

AU - Lyonnet, S

AU - Tam, PKH

AU - Garcia-Barcelo, MM

AU - Hofstra, Robert

PY - 2017

Y1 - 2017

U2 - 10.1186/s13059-017-1174-6

DO - 10.1186/s13059-017-1174-6

M3 - Article

C2 - 28274275

SN - 1474-760X

VL - 18

JO - Genome Biology

JF - Genome Biology

M1 - 48

ER -