Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant

Valtter B. Virtanen; Perttu P. Salo; Jia Gao; J Cao; Anna Löf-Granström; Lill Milani; Andres Metspalu; Risto J. Rintala; Outi Saarenpää-Heikkilä; Tiina Pauni; Tomas Wester; Agneta Nordenskjöld; Markus Perola; Mikko P. Pakarinen

doi:10.1016/j.ejmg.2018.07.019

Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant

Valtter B. Virtanen
, Perttu P. Salo
, Jia Gao
, J Cao
, Anna Löf-Granström
, Lill Milani
, Andres Metspalu
, Risto J. Rintala
, Outi Saarenpää-Heikkilä
, Tiina Pauni
, Tomas Wester
, Agneta Nordenskjöld
, Markus Perola
, Mikko P. Pakarinen

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

13 Citations (Scopus)

Original language	English
Pages (from-to)	229-234
Journal	European Journal of Medical Genetics
Volume	62
Issue number	4
DOIs	https://doi.org/10.1016/j.ejmg.2018.07.019
Publication status	Published - 2019
Publication type	A1 Journal article-refereed

Keywords

GWAS
Genetics
Hirschsprung disease
RET

Publication forum classification

Publication forum level 1

Access to Document

10.1016/j.ejmg.2018.07.019

Cite this

Virtanen, V. B., Salo, P. P., Gao, J., Cao, J., Löf-Granström, A., Milani, L., Metspalu, A., Rintala, R. J., Saarenpää-Heikkilä, O., Pauni, T., Wester, T., Nordenskjöld, A., Perola, M., & Pakarinen, M. P. (2019). Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant. European Journal of Medical Genetics, 62(4), 229-234. https://doi.org/10.1016/j.ejmg.2018.07.019

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title = "Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant",

keywords = "GWAS, Genetics, Hirschsprung disease, RET, GWAS, Genetics, Hirschsprung disease, RET",

author = "Virtanen, \{Valtter B.\} and Salo, \{Perttu P.\} and Jia Gao and J Cao and Anna L{\"o}f-Granstr{\"o}m and Lill Milani and Andres Metspalu and Rintala, \{Risto J.\} and Outi Saarenp{\"a}{\"a}-Heikkil{\"a} and Tiina Pauni and Tomas Wester and Agneta Nordenskj{\"o}ld and Markus Perola and Pakarinen, \{Mikko P.\}",

year = "2019",

doi = "10.1016/j.ejmg.2018.07.019",

language = "English",

volume = "62",

pages = "229--234",

journal = "European Journal of Medical Genetics",

issn = "1769-7212",

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Virtanen, VB, Salo, PP, Gao, J, Cao, J, Löf-Granström, A, Milani, L, Metspalu, A, Rintala, RJ, Saarenpää-Heikkilä, O, Pauni, T, Wester, T, Nordenskjöld, A, Perola, M & Pakarinen, MP 2019, 'Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant', European Journal of Medical Genetics, vol. 62, no. 4, pp. 229-234. https://doi.org/10.1016/j.ejmg.2018.07.019

TY - JOUR

T1 - Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant

AU - Virtanen, Valtter B.

AU - Salo, Perttu P.

AU - Gao, Jia

AU - Cao, J

AU - Löf-Granström, Anna

AU - Milani, Lill

AU - Metspalu, Andres

AU - Rintala, Risto J.

AU - Saarenpää-Heikkilä, Outi

AU - Pauni, Tiina

AU - Wester, Tomas

AU - Nordenskjöld, Agneta

AU - Perola, Markus

AU - Pakarinen, Mikko P.

PY - 2019

Y1 - 2019

KW - GWAS

KW - Genetics

KW - Hirschsprung disease

KW - RET

KW - GWAS

KW - Genetics

KW - Hirschsprung disease

KW - RET

U2 - 10.1016/j.ejmg.2018.07.019

DO - 10.1016/j.ejmg.2018.07.019

M3 - Article

SN - 1769-7212

VL - 62

SP - 229

EP - 234

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

IS - 4

ER -