Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

Eva S van Walree; Gregor Dombrowsky; Iris E Jansen; Maša Umićević Mirkov; Rob Zwart; Aho Ilgun; Dongchuan Guo; Sally-Ann B Clur; Ahmed S Amin; Jeanne E Savage; Allard C van der Wal; Quinten Waisfisz; Alessandra Maugeri; Anna Wilsdon; Frances A Bu'Lock; Matthew E Hurles; Sven Dittrich; Felix Berger; Enrique Audain Martinez; Vincent M Christoffels; Marc-Philip Hitz; Dianna M Milewicz; Daniëlle Posthuma; Hanne Meijers-Heijboer; Alex V Postma; Inge B Mathijssen

doi:10.1016/j.gim.2022.01.018

Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

Eva S van Walree
, Gregor Dombrowsky
, Iris E Jansen
, Maša Umićević Mirkov
, Rob Zwart
, Aho Ilgun
, Dongchuan Guo
, Sally-Ann B Clur
, Ahmed S Amin
, Jeanne E Savage
, Allard C van der Wal
, Quinten Waisfisz
, Alessandra Maugeri
, Anna Wilsdon
, Frances A Bu'Lock
, Matthew E Hurles
, Sven Dittrich
, Felix Berger
, Enrique Audain Martinez
, Vincent M Christoffels

Marc-Philip Hitz, Dianna M Milewicz, Daniëlle Posthuma, Hanne Meijers-Heijboer, Alex V Postma, Inge B Mathijssen

Research output: Contribution to Journal › Comment / Letter to the editor › Academic

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Original language	English
Pages (from-to)	965-965
Number of pages	1
Journal	Genetics in Medicine
Volume	24
Issue number	4
Early online date	5 Apr 2022
DOIs	https://doi.org/10.1016/j.gim.2022.01.018
Publication status	Published - Apr 2022

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10.1016/j.gim.2022.01.018

Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysmsFinal published version, 290 KBLicence: Article 25fa Dutch Copyright Act

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van Walree, E. S., Dombrowsky, G., Jansen, I. E., Umićević Mirkov, M., Zwart, R., Ilgun, A., Guo, D., Clur, S.-A. B., Amin, A. S., Savage, J. E., van der Wal, A. C., Waisfisz, Q., Maugeri, A., Wilsdon, A., Bu'Lock, F. A., Hurles, M. E., Dittrich, S., Berger, F., Audain Martinez, E., ... Mathijssen, I. B. (2022). Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms. Genetics in Medicine, 24(4), 965-965. https://doi.org/10.1016/j.gim.2022.01.018

@article{7e2807ba0a5e4ff5b1789aae3f7eb507,

title = "Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms",

author = "\{van Walree\}, \{Eva S\} and Gregor Dombrowsky and Jansen, \{Iris E\} and \{Umi{\'c}evi{\'c} Mirkov\}, Ma{\v s}a and Rob Zwart and Aho Ilgun and Dongchuan Guo and Clur, \{Sally-Ann B\} and Amin, \{Ahmed S\} and Savage, \{Jeanne E\} and \{van der Wal\}, \{Allard C\} and Quinten Waisfisz and Alessandra Maugeri and Anna Wilsdon and Bu'Lock, \{Frances A\} and Hurles, \{Matthew E\} and Sven Dittrich and Felix Berger and \{Audain Martinez\}, Enrique and Christoffels, \{Vincent M\} and Marc-Philip Hitz and Milewicz, \{Dianna M\} and Dani{\"e}lle Posthuma and Hanne Meijers-Heijboer and Postma, \{Alex V\} and Mathijssen, \{Inge B\}",

year = "2022",

month = apr,

doi = "10.1016/j.gim.2022.01.018",

language = "English",

volume = "24",

pages = "965--965",

journal = "Genetics in Medicine",

issn = "1098-3600",

publisher = "Elsevier B.V.",

number = "4",

}

van Walree, ES, Dombrowsky, G, Jansen, IE, Umićević Mirkov, M, Zwart, R, Ilgun, A, Guo, D, Clur, S-AB, Amin, AS, Savage, JE , van der Wal, AC, Waisfisz, Q, Maugeri, A, Wilsdon, A, Bu'Lock, FA, Hurles, ME, Dittrich, S, Berger, F, Audain Martinez, E, Christoffels, VM, Hitz, M-P, Milewicz, DM, Posthuma, D, Meijers-Heijboer, H, Postma, AV & Mathijssen, IB 2022, 'Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms', Genetics in Medicine, vol. 24, no. 4, pp. 965-965. https://doi.org/10.1016/j.gim.2022.01.018

TY - JOUR

T1 - Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

AU - van Walree, Eva S

AU - Dombrowsky, Gregor

AU - Jansen, Iris E

AU - Umićević Mirkov, Maša

AU - Zwart, Rob

AU - Ilgun, Aho

AU - Guo, Dongchuan

AU - Clur, Sally-Ann B

AU - Amin, Ahmed S

AU - Savage, Jeanne E

AU - van der Wal, Allard C

AU - Waisfisz, Quinten

AU - Maugeri, Alessandra

AU - Wilsdon, Anna

AU - Bu'Lock, Frances A

AU - Hurles, Matthew E

AU - Dittrich, Sven

AU - Berger, Felix

AU - Audain Martinez, Enrique

AU - Christoffels, Vincent M

AU - Hitz, Marc-Philip

AU - Milewicz, Dianna M

AU - Posthuma, Daniëlle

AU - Meijers-Heijboer, Hanne

AU - Postma, Alex V

AU - Mathijssen, Inge B

PY - 2022/4

Y1 - 2022/4

U2 - 10.1016/j.gim.2022.01.018

DO - 10.1016/j.gim.2022.01.018

M3 - Comment / Letter to the editor

C2 - 35394427

SN - 1098-3600

VL - 24

SP - 965

EP - 965

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 4

ER -