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 & 7 others T. Lucke, A. Bokenkamp, M.A. Marra, M. van Lohuizen, D.B. Lewis, C. Shaw, C.F. Boerkoel

Research output: Contribution to journalArticleAcademicpeer-review

Original languageUndefined/Unknown
Pages (from-to)2572-2586
JournalHuman Molecular Genetics
Volume21
Issue number11
DOIs
Publication statusPublished - 2012

Cite this

Baradaran-Heravi, A., Cho, K. S., Tolhuis, B., Sanyal, M., Morozova, O., Morimoto, M., ... 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
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. ; Mayfield, C. ; Lucke, T. ; Bokenkamp, A. ; Marra, M.A. ; van Lohuizen, M. ; Lewis, D.B. ; Shaw, C. ; Boerkoel, C.F. / Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression. In: Human Molecular Genetics. 2012 ; Vol. 21, No. 11. pp. 2572-2586.
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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 = "10.1093/hmg/dds083",
language = "Undefined/Unknown",
volume = "21",
pages = "2572--2586",
journal = "Human Molecular Genetics",
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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

Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression. / 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.; Mayfield, C.; Lucke, T.; Bokenkamp, A.; Marra, M.A.; van Lohuizen, M.; Lewis, D.B.; Shaw, C.; Boerkoel, C.F.

In: Human Molecular Genetics, Vol. 21, No. 11, 2012, p. 2572-2586.

Research output: Contribution to journalArticleAcademicpeer-review

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 - 10.1093/hmg/dds083

DO - 10.1093/hmg/dds083

M3 - Article

VL - 21

SP - 2572

EP - 2586

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 11

ER -