Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression

A. Baradaran-Heravi; K.S. Cho; B. Tolhuis; M. Sanyal; O. Morozova; M. Morimoto; L.I. Elizondo; D. Bridgewater; J. Lubieniecka; K. Beirnes; C. Myung; D. Leung; H.K. Fam; K. Choi; Y. Huang; K.Y. Dionis; J. Zonana; K. Keller; P. Stenzel; C. Mayfield; T. Lucke; A. Bokenkamp; M.A. Marra; M. van Lohuizen; D.B. Lewis; C. Shaw; C.F. Boerkoel

doi:https://doi.org/10.1093/hmg/dds083

Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression

A. Baradaran-Heravi, K.S. Cho, B. Tolhuis, M. Sanyal, O. Morozova, M. Morimoto, L.I. Elizondo, D. Bridgewater, J. Lubieniecka, K. Beirnes, C. Myung, D. Leung, H.K. Fam, K. Choi, Y. Huang, K.Y. Dionis, J. Zonana, K. Keller, P. Stenzel, C. MayfieldT. Lucke, A. Bokenkamp, M.A. Marra, M. van Lohuizen, D.B. Lewis, C. Shaw, C.F. Boerkoel

Pediatric surgery (VUmc)

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

48 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	2572-2586
Journal	Human Molecular Genetics
Volume	21
Issue number	11
DOIs	https://doi.org/10.1093/hmg/dds083
Publication status	Published - 2012

Access to Document

https://doi.org/10.1093/hmg/dds083

Cite this

Baradaran-Heravi, A., Cho, K. S., Tolhuis, B., Sanyal, M., Morozova, O., Morimoto, M., Elizondo, L. I., Bridgewater, D., Lubieniecka, J., Beirnes, K., Myung, C., Leung, D., Fam, H. K., Choi, K., Huang, Y., Dionis, K. Y., Zonana, J., Keller, K., Stenzel, P., ... Boerkoel, C. F. (2012). Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression. Human Molecular Genetics, 21(11), 2572-2586. https://doi.org/10.1093/hmg/dds083

@article{c91dcc82cea3465388619fbc4df44b98,

title = "Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression",

author = "A. Baradaran-Heravi and K.S. Cho and B. Tolhuis and M. Sanyal and O. Morozova and M. Morimoto and L.I. Elizondo and D. Bridgewater and J. Lubieniecka and K. Beirnes and C. Myung and D. Leung and H.K. Fam and K. Choi and Y. Huang and K.Y. Dionis and J. Zonana and K. Keller and P. Stenzel and C. Mayfield and T. Lucke and A. Bokenkamp and M.A. Marra and {van Lohuizen}, M. and D.B. Lewis and C. Shaw and C.F. Boerkoel",

year = "2012",

doi = "https://doi.org/10.1093/hmg/dds083",

language = "Undefined/Unknown",

volume = "21",

pages = "2572--2586",

journal = "Human Molecular Genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

number = "11",

}

Baradaran-Heravi, A, Cho, KS, Tolhuis, B, Sanyal, M, Morozova, O, Morimoto, M, Elizondo, LI, Bridgewater, D, Lubieniecka, J, Beirnes, K, Myung, C, Leung, D, Fam, HK, Choi, K, Huang, Y, Dionis, KY, Zonana, J, Keller, K, Stenzel, P, Mayfield, C, Lucke, T, Bokenkamp, A, Marra, MA, van Lohuizen, M, Lewis, DB, Shaw, C & Boerkoel, CF 2012, 'Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression', Human Molecular Genetics, vol. 21, no. 11, pp. 2572-2586. https://doi.org/10.1093/hmg/dds083

TY - JOUR

T1 - Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression

AU - Baradaran-Heravi, A.

AU - Cho, K.S.

AU - Tolhuis, B.

AU - Sanyal, M.

AU - Morozova, O.

AU - Morimoto, M.

AU - Elizondo, L.I.

AU - Bridgewater, D.

AU - Lubieniecka, J.

AU - Beirnes, K.

AU - Myung, C.

AU - Leung, D.

AU - Fam, H.K.

AU - Choi, K.

AU - Huang, Y.

AU - Dionis, K.Y.

AU - Zonana, J.

AU - Keller, K.

AU - Stenzel, P.

AU - Mayfield, C.

AU - Lucke, T.

AU - Bokenkamp, A.

AU - Marra, M.A.

AU - van Lohuizen, M.

AU - Lewis, D.B.

AU - Shaw, C.

AU - Boerkoel, C.F.

PY - 2012

Y1 - 2012

U2 - https://doi.org/10.1093/hmg/dds083

DO - https://doi.org/10.1093/hmg/dds083

M3 - Article

C2 - 22378147

SN - 0964-6906

VL - 21

SP - 2572

EP - 2586

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 11

ER -