Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3

Tingwei Guo; Gabriela M. Repetto; Donna M. McDonald McGinn; Jonathan H. Chung; Hiroko Nomaru; Christopher L. Campbell; Anna Blonska; Anne S. Bassett; Eva W. C. Chow; Elisabeth E. Mlynarski; Ann Swillen; Joris Vermeesch; Koen Devriendt; Doron Gothelf; Miri Carmel; Elena Michaelovsky; Maude Schneider; Stephan Eliez; Stylianos E. Antonarakis; Karlene Coleman; Aoy Tomita-Mitchell; Michael E. Mitchell; M. Cristina Digilio; Bruno Dallapiccola; Bruno Marino; Nicole Philip; Tiffany Busa; Leila Kushan-Wells; Carrie E. Bearden; Malgorzata Piotrowicz; Wanda Hawula; Amy E. Roberts; Flora Tassone; Tony J. Simon; Esther D. A. van Duin; Therese A. van Amelsvoort; Wendy R. Kates; Elaine Zackai; H. Richard Johnston; David J. Cutler; A. J. Agopian; Elizabeth Goldmuntz; Laura E. Mitchell; Tao Wang; Beverly S. Emanuel; Bernice E. Morrow; Int 22q11 2 Consortium; Brain Behav Consortium

doi:10.1161/CIRCGENETICS.116.001690

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3

Tingwei Guo, Gabriela M. Repetto, Donna M. McDonald McGinn, Jonathan H. Chung, Hiroko Nomaru, Christopher L. Campbell, Anna Blonska, Anne S. Bassett, Eva W. C. Chow, Elisabeth E. Mlynarski, Ann Swillen, Joris Vermeesch, Koen Devriendt, Doron Gothelf, Miri Carmel, Elena Michaelovsky, Maude Schneider, Stephan Eliez, Stylianos E. Antonarakis, Karlene ColemanAoy Tomita-Mitchell, Michael E. Mitchell, M. Cristina Digilio, Bruno Dallapiccola, Bruno Marino, Nicole Philip, Tiffany Busa, Leila Kushan-Wells, Carrie E. Bearden, Malgorzata Piotrowicz, Wanda Hawula, Amy E. Roberts, Flora Tassone, Tony J. Simon, Esther D. A. van Duin, Therese A. van Amelsvoort, Wendy R. Kates, Elaine Zackai, H. Richard Johnston, David J. Cutler, A. J. Agopian, Elizabeth Goldmuntz, Laura E. Mitchell, Tao Wang, Beverly S. Emanuel, Bernice E. Morrow^*, Int 22q11 2 Consortium, Brain Behav Consortium

^*Corresponding author for this work

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

Original language	English
Article number	e001690
Number of pages	10
Journal	Circulation : Cardiovascular Genetics
Volume	10
Issue number	5
DOIs	https://doi.org/10.1161/CIRCGENETICS.116.001690
Publication status	Published - Oct 2017

Keywords

chromosomes
DiGeorge syndrome
genotype
ivelo-cardio-facial syndrome
tetralogy of Fallot
PROTEIN-COUPLED RECEPTOR
CARDIO-FACIAL SYNDROME
DIGEORGE-SYNDROME
CHROMATIN ARCHITECTURE
CELL-DIFFERENTIATION
DROSOPHILA GENOME
GENE-EXPRESSION
SYNDROME REGION
OUTFLOW TRACT
HEART FIELD

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10.1161/CIRCGENETICS.116.001690

Cite this

Guo, T., Repetto, G. M., McGinn, D. M. M., Chung, J. H., Nomaru, H., Campbell, C. L., Blonska, A., Bassett, A. S., Chow, E. W. C., Mlynarski, E. E., Swillen, A., Vermeesch, J., Devriendt, K., Gothelf, D., Carmel, M., Michaelovsky, E., Schneider, M., Eliez, S., Antonarakis, S. E., ... Brain Behav Consortium (2017). Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. Circulation : Cardiovascular Genetics, 10(5), [e001690]. https://doi.org/10.1161/CIRCGENETICS.116.001690

Guo, Tingwei ; Repetto, Gabriela M. ; McGinn, Donna M. McDonald ; Chung, Jonathan H. ; Nomaru, Hiroko ; Campbell, Christopher L. ; Blonska, Anna ; Bassett, Anne S. ; Chow, Eva W. C. ; Mlynarski, Elisabeth E. ; Swillen, Ann ; Vermeesch, Joris ; Devriendt, Koen ; Gothelf, Doron ; Carmel, Miri ; Michaelovsky, Elena ; Schneider, Maude ; Eliez, Stephan ; Antonarakis, Stylianos E. ; Coleman, Karlene ; Tomita-Mitchell, Aoy ; Mitchell, Michael E. ; Digilio, M. Cristina ; Dallapiccola, Bruno ; Marino, Bruno ; Philip, Nicole ; Busa, Tiffany ; Kushan-Wells, Leila ; Bearden, Carrie E. ; Piotrowicz, Malgorzata ; Hawula, Wanda ; Roberts, Amy E. ; Tassone, Flora ; Simon, Tony J. ; van Duin, Esther D. A. ; van Amelsvoort, Therese A. ; Kates, Wendy R. ; Zackai, Elaine ; Johnston, H. Richard ; Cutler, David J. ; Agopian, A. J. ; Goldmuntz, Elizabeth ; Mitchell, Laura E. ; Wang, Tao ; Emanuel, Beverly S. ; Morrow, Bernice E. ; Int 22q11 2 Consortium ; Brain Behav Consortium. / Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. In: Circulation : Cardiovascular Genetics. 2017 ; Vol. 10, No. 5.

@article{39e16a0747134dfbae9ed8f27446daa7,

title = "Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3",

keywords = "chromosomes, DiGeorge syndrome, genotype, ivelo-cardio-facial syndrome, tetralogy of Fallot, PROTEIN-COUPLED RECEPTOR, CARDIO-FACIAL SYNDROME, DIGEORGE-SYNDROME, CHROMATIN ARCHITECTURE, CELL-DIFFERENTIATION, DROSOPHILA GENOME, GENE-EXPRESSION, SYNDROME REGION, OUTFLOW TRACT, HEART FIELD",

author = "Tingwei Guo and Repetto, {Gabriela M.} and McGinn, {Donna M. McDonald} and Chung, {Jonathan H.} and Hiroko Nomaru and Campbell, {Christopher L.} and Anna Blonska and Bassett, {Anne S.} and Chow, {Eva W. C.} and Mlynarski, {Elisabeth E.} and Ann Swillen and Joris Vermeesch and Koen Devriendt and Doron Gothelf and Miri Carmel and Elena Michaelovsky and Maude Schneider and Stephan Eliez and Antonarakis, {Stylianos E.} and Karlene Coleman and Aoy Tomita-Mitchell and Mitchell, {Michael E.} and Digilio, {M. Cristina} and Bruno Dallapiccola and Bruno Marino and Nicole Philip and Tiffany Busa and Leila Kushan-Wells and Bearden, {Carrie E.} and Malgorzata Piotrowicz and Wanda Hawula and Roberts, {Amy E.} and Flora Tassone and Simon, {Tony J.} and {van Duin}, {Esther D. A.} and {van Amelsvoort}, {Therese A.} and Kates, {Wendy R.} and Elaine Zackai and Johnston, {H. Richard} and Cutler, {David J.} and Agopian, {A. J.} and Elizabeth Goldmuntz and Mitchell, {Laura E.} and Tao Wang and Emanuel, {Beverly S.} and Morrow, {Bernice E.} and {Int 22q11 2 Consortium} and {Brain Behav Consortium}",

year = "2017",

month = oct,

doi = "10.1161/CIRCGENETICS.116.001690",

language = "English",

volume = "10",

journal = "Circulation : Cardiovascular Genetics",

issn = "1942-3268",

publisher = "LIPPINCOTT WILLIAMS & WILKINS",

number = "5",

}

Guo, T, Repetto, GM, McGinn, DMM, Chung, JH, Nomaru, H, Campbell, CL, Blonska, A, Bassett, AS, Chow, EWC, Mlynarski, EE, Swillen, A, Vermeesch, J, Devriendt, K, Gothelf, D, Carmel, M, Michaelovsky, E, Schneider, M, Eliez, S, Antonarakis, SE, Coleman, K, Tomita-Mitchell, A, Mitchell, ME, Digilio, MC, Dallapiccola, B, Marino, B, Philip, N, Busa, T, Kushan-Wells, L, Bearden, CE, Piotrowicz, M, Hawula, W, Roberts, AE, Tassone, F, Simon, TJ, van Duin, EDA, van Amelsvoort, TA, Kates, WR, Zackai, E, Johnston, HR, Cutler, DJ, Agopian, AJ, Goldmuntz, E, Mitchell, LE, Wang, T, Emanuel, BS, Morrow, BE, Int 22q11 2 Consortium & Brain Behav Consortium 2017, 'Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3', Circulation : Cardiovascular Genetics, vol. 10, no. 5, e001690. https://doi.org/10.1161/CIRCGENETICS.116.001690

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. / Guo, Tingwei; Repetto, Gabriela M.; McGinn, Donna M. McDonald; Chung, Jonathan H.; Nomaru, Hiroko; Campbell, Christopher L.; Blonska, Anna; Bassett, Anne S.; Chow, Eva W. C.; Mlynarski, Elisabeth E.; Swillen, Ann; Vermeesch, Joris; Devriendt, Koen; Gothelf, Doron; Carmel, Miri; Michaelovsky, Elena; Schneider, Maude; Eliez, Stephan; Antonarakis, Stylianos E.; Coleman, Karlene; Tomita-Mitchell, Aoy; Mitchell, Michael E.; Digilio, M. Cristina; Dallapiccola, Bruno; Marino, Bruno; Philip, Nicole; Busa, Tiffany; Kushan-Wells, Leila; Bearden, Carrie E.; Piotrowicz, Malgorzata; Hawula, Wanda; Roberts, Amy E.; Tassone, Flora; Simon, Tony J.; van Duin, Esther D. A.; van Amelsvoort, Therese A.; Kates, Wendy R.; Zackai, Elaine; Johnston, H. Richard; Cutler, David J.; Agopian, A. J.; Goldmuntz, Elizabeth; Mitchell, Laura E.; Wang, Tao; Emanuel, Beverly S.; Morrow, Bernice E.; Int 22q11 2 Consortium; Brain Behav Consortium.

In: Circulation : Cardiovascular Genetics, Vol. 10, No. 5, e001690, 10.2017.

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

TY - JOUR

T1 - Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3

AU - Guo, Tingwei

AU - Repetto, Gabriela M.

AU - McGinn, Donna M. McDonald

AU - Chung, Jonathan H.

AU - Nomaru, Hiroko

AU - Campbell, Christopher L.

AU - Blonska, Anna

AU - Bassett, Anne S.

AU - Chow, Eva W. C.

AU - Mlynarski, Elisabeth E.

AU - Swillen, Ann

AU - Vermeesch, Joris

AU - Devriendt, Koen

AU - Gothelf, Doron

AU - Carmel, Miri

AU - Michaelovsky, Elena

AU - Schneider, Maude

AU - Eliez, Stephan

AU - Antonarakis, Stylianos E.

AU - Coleman, Karlene

AU - Tomita-Mitchell, Aoy

AU - Mitchell, Michael E.

AU - Digilio, M. Cristina

AU - Dallapiccola, Bruno

AU - Marino, Bruno

AU - Philip, Nicole

AU - Busa, Tiffany

AU - Kushan-Wells, Leila

AU - Bearden, Carrie E.

AU - Piotrowicz, Malgorzata

AU - Hawula, Wanda

AU - Roberts, Amy E.

AU - Tassone, Flora

AU - Simon, Tony J.

AU - van Duin, Esther D. A.

AU - van Amelsvoort, Therese A.

AU - Kates, Wendy R.

AU - Zackai, Elaine

AU - Johnston, H. Richard

AU - Cutler, David J.

AU - Agopian, A. J.

AU - Goldmuntz, Elizabeth

AU - Mitchell, Laura E.

AU - Wang, Tao

AU - Emanuel, Beverly S.

AU - Morrow, Bernice E.

AU - Int 22q11 2 Consortium

AU - Brain Behav Consortium

PY - 2017/10

Y1 - 2017/10

KW - chromosomes

KW - DiGeorge syndrome

KW - genotype

KW - ivelo-cardio-facial syndrome

KW - tetralogy of Fallot

KW - PROTEIN-COUPLED RECEPTOR

KW - CARDIO-FACIAL SYNDROME

KW - DIGEORGE-SYNDROME

KW - CHROMATIN ARCHITECTURE

KW - CELL-DIFFERENTIATION

KW - DROSOPHILA GENOME

KW - GENE-EXPRESSION

KW - SYNDROME REGION

KW - OUTFLOW TRACT

KW - HEART FIELD

U2 - 10.1161/CIRCGENETICS.116.001690

DO - 10.1161/CIRCGENETICS.116.001690

M3 - Article

VL - 10

JO - Circulation : Cardiovascular Genetics

JF - Circulation : Cardiovascular Genetics

SN - 1942-3268

IS - 5

M1 - e001690

ER -