Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations

Romy van de Putte; Charlotte H. W. Wijers; Heiko Reutter; Sita H. Vermeulen; Carlo L. M. Marcelis; Erwin Brosens; Paul M. A. Broens; Markus Homberg; Michael Ludwig; Ekkehart Jenetzky; Nadine Zwink; Cornelius E. J. Sloots; Annelies de Klein; Alice S. Brooke; Robert M. W. Hofstra; Sophie A. C. Holsink; Loes F. M. van Der Zanden; Tessel E. Galesloot; Paul Kwong-Hang Tam; Marloes Steehouwer; Rocio Acuna-Hidalgo; Maartje van de Vorst; Lambertus A. Kiemeney; Maria-Merce Garcia-Barcelo; Ivo de Blaauw; Han G. Brunner; Nel Roeleveld; Iris A. L. M. van Rooij

doi:10.1371/journal.pone.0217477

Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations

Romy van de Putte^*, Charlotte H. W. Wijers, Heiko Reutter, Sita H. Vermeulen, Carlo L. M. Marcelis, Erwin Brosens, Paul M. A. Broens, Markus Homberg, Michael Ludwig, Ekkehart Jenetzky, Nadine Zwink, Cornelius E. J. Sloots, Annelies de Klein, Alice S. Brooke, Robert M. W. Hofstra, Sophie A. C. Holsink, Loes F. M. van Der Zanden, Tessel E. Galesloot, Paul Kwong-Hang Tam, Marloes SteehouwerRocio Acuna-Hidalgo, Maartje van de Vorst, Lambertus A. Kiemeney, Maria-Merce Garcia-Barcelo, Ivo de Blaauw, Han G. Brunner, Nel Roeleveld, Iris A. L. M. van Rooij

^*Corresponding author for this work

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

Original language	English
Article number	0217477
Number of pages	12
Journal	PLOS ONE
Volume	14
Issue number	5
DOIs	https://doi.org/10.1371/journal.pone.0217477
Publication status	Published - 28 May 2019

Keywords

BIRTH-DEFECTS
CANDIDATE GENE
RISK
ANOMALIES
EXCLUSION
REGISTRY
OBESITY
FGF10

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van de Putte, R., Wijers, C. H. W., Reutter, H., Vermeulen, S. H., Marcelis, C. L. M., Brosens, E., Broens, P. M. A., Homberg, M., Ludwig, M., Jenetzky, E., Zwink, N., Sloots, C. E. J., de Klein, A., Brooke, A. S., Hofstra, R. M. W., Holsink, S. A. C., van Der Zanden, L. F. M., Galesloot, T. E., Tam, P. K-H., ... van Rooij, I. A. L. M. (2019). Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations. PLOS ONE, 14(5), [0217477]. https://doi.org/10.1371/journal.pone.0217477

van de Putte, Romy ; Wijers, Charlotte H. W. ; Reutter, Heiko ; Vermeulen, Sita H. ; Marcelis, Carlo L. M. ; Brosens, Erwin ; Broens, Paul M. A. ; Homberg, Markus ; Ludwig, Michael ; Jenetzky, Ekkehart ; Zwink, Nadine ; Sloots, Cornelius E. J. ; de Klein, Annelies ; Brooke, Alice S. ; Hofstra, Robert M. W. ; Holsink, Sophie A. C. ; van Der Zanden, Loes F. M. ; Galesloot, Tessel E. ; Tam, Paul Kwong-Hang ; Steehouwer, Marloes ; Acuna-Hidalgo, Rocio ; van de Vorst, Maartje ; Kiemeney, Lambertus A. ; Garcia-Barcelo, Maria-Merce ; de Blaauw, Ivo ; Brunner, Han G. ; Roeleveld, Nel ; van Rooij, Iris A. L. M. / Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations. In: PLOS ONE. 2019 ; Vol. 14, No. 5.

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title = "Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations",

keywords = "BIRTH-DEFECTS, CANDIDATE GENE, RISK, ANOMALIES, EXCLUSION, REGISTRY, OBESITY, FGF10",

author = "{van de Putte}, Romy and Wijers, {Charlotte H. W.} and Heiko Reutter and Vermeulen, {Sita H.} and Marcelis, {Carlo L. M.} and Erwin Brosens and Broens, {Paul M. A.} and Markus Homberg and Michael Ludwig and Ekkehart Jenetzky and Nadine Zwink and Sloots, {Cornelius E. J.} and {de Klein}, Annelies and Brooke, {Alice S.} and Hofstra, {Robert M. W.} and Holsink, {Sophie A. C.} and {van Der Zanden}, {Loes F. M.} and Galesloot, {Tessel E.} and Tam, {Paul Kwong-Hang} and Marloes Steehouwer and Rocio Acuna-Hidalgo and {van de Vorst}, Maartje and Kiemeney, {Lambertus A.} and Maria-Merce Garcia-Barcelo and {de Blaauw}, Ivo and Brunner, {Han G.} and Nel Roeleveld and {van Rooij}, {Iris A. L. M.}",

year = "2019",

month = may,

day = "28",

doi = "10.1371/journal.pone.0217477",

language = "English",

volume = "14",

journal = "PLOS ONE",

issn = "1932-6203",

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van de Putte, R, Wijers, CHW, Reutter, H, Vermeulen, SH, Marcelis, CLM, Brosens, E, Broens, PMA, Homberg, M, Ludwig, M, Jenetzky, E, Zwink, N, Sloots, CEJ, de Klein, A, Brooke, AS, Hofstra, RMW, Holsink, SAC, van Der Zanden, LFM, Galesloot, TE, Tam, PK-H, Steehouwer, M, Acuna-Hidalgo, R, van de Vorst, M, Kiemeney, LA, Garcia-Barcelo, M-M, de Blaauw, I, Brunner, HG, Roeleveld, N & van Rooij, IALM 2019, 'Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations', PLOS ONE, vol. 14, no. 5, 0217477. https://doi.org/10.1371/journal.pone.0217477

Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations. / van de Putte, Romy; Wijers, Charlotte H. W.; Reutter, Heiko; Vermeulen, Sita H.; Marcelis, Carlo L. M.; Brosens, Erwin; Broens, Paul M. A.; Homberg, Markus; Ludwig, Michael; Jenetzky, Ekkehart; Zwink, Nadine; Sloots, Cornelius E. J.; de Klein, Annelies; Brooke, Alice S.; Hofstra, Robert M. W.; Holsink, Sophie A. C.; van Der Zanden, Loes F. M.; Galesloot, Tessel E.; Tam, Paul Kwong-Hang; Steehouwer, Marloes; Acuna-Hidalgo, Rocio; van de Vorst, Maartje; Kiemeney, Lambertus A.; Garcia-Barcelo, Maria-Merce; de Blaauw, Ivo; Brunner, Han G.; Roeleveld, Nel; van Rooij, Iris A. L. M.

In: PLOS ONE, Vol. 14, No. 5, 0217477, 28.05.2019.

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

TY - JOUR

T1 - Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations

AU - van de Putte, Romy

AU - Wijers, Charlotte H. W.

AU - Reutter, Heiko

AU - Vermeulen, Sita H.

AU - Marcelis, Carlo L. M.

AU - Brosens, Erwin

AU - Broens, Paul M. A.

AU - Homberg, Markus

AU - Ludwig, Michael

AU - Jenetzky, Ekkehart

AU - Zwink, Nadine

AU - Sloots, Cornelius E. J.

AU - de Klein, Annelies

AU - Brooke, Alice S.

AU - Hofstra, Robert M. W.

AU - Holsink, Sophie A. C.

AU - van Der Zanden, Loes F. M.

AU - Galesloot, Tessel E.

AU - Tam, Paul Kwong-Hang

AU - Steehouwer, Marloes

AU - Acuna-Hidalgo, Rocio

AU - van de Vorst, Maartje

AU - Kiemeney, Lambertus A.

AU - Garcia-Barcelo, Maria-Merce

AU - de Blaauw, Ivo

AU - Brunner, Han G.

AU - Roeleveld, Nel

AU - van Rooij, Iris A. L. M.

PY - 2019/5/28

Y1 - 2019/5/28

KW - BIRTH-DEFECTS

KW - CANDIDATE GENE

KW - RISK

KW - ANOMALIES

KW - EXCLUSION

KW - REGISTRY

KW - OBESITY

KW - FGF10

U2 - 10.1371/journal.pone.0217477

DO - 10.1371/journal.pone.0217477

M3 - Article

C2 - 31136621

VL - 14

JO - PLOS ONE

JF - PLOS ONE

SN - 1932-6203

IS - 5

M1 - 0217477

ER -