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Page 1
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SH, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, Prigmore E, Rajan D, Abdul-Khaliq H, Banka S, Bauer UM, Bentham J, Berger F, Bhattacharya S, Bu'Lock F, Canham N, Colgiu IG, Cosgrove C, Cox H, Daehnert I, Daly A, Danesh J, Fryer A, Gewillig M, Hobson E, Hoff K, Homfray T; INTERVAL Study; Kahlert AK, Ketley A, Kramer HH, Lachlan K, Lampe AK, Louw JJ, Manickara AK, Manase D, McCarthy KP, Metcalfe K, Moore C, Newbury-Ecob R, Omer SO, Ouwehand WH, Park SM, Parker MJ, Pickardt T, Pollard MO, Robert L, Roberts DJ, Sambrook J, Setchfield K, Stiller B, Thornborough C, Toka O, Watkins H, Williams D, Wright M, Mital S, Daubeney PE, Keavney B, Goodship J; UK10K Consortium; Abu-Sulaiman RM, Klaassen S, Wright CF, Firth HV, Barrett JC, Devriendt K, FitzPatrick DR, Brook JD; Deciphering Developmental Disorders Study; Hurles ME. Sifrim A, et al. Among authors: wilsdon a. Nat Genet. 2016 Sep;48(9):1060-5. doi: 10.1038/ng.3627. Epub 2016 Aug 1. Nat Genet. 2016. PMID: 27479907 Free PMC article.
T-Box Genes in Human Development and Disease.
Ghosh TK, Brook JD, Wilsdon A. Ghosh TK, et al. Among authors: wilsdon a. Curr Top Dev Biol. 2017;122:383-415. doi: 10.1016/bs.ctdb.2016.08.006. Epub 2016 Oct 5. Curr Top Dev Biol. 2017. PMID: 28057271 Review.
Recent advances in congenital heart disease genomics.
Wilsdon A, Sifrim A, Hitz MP, Hurles M, Brook JD. Wilsdon A, et al. F1000Res. 2017 Jun 12;6:869. doi: 10.12688/f1000research.10113.1. eCollection 2017. F1000Res. 2017. PMID: 28663792 Free PMC article. Review.
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.
van Walree ES, Dombrowsky G, Jansen IE, Mirkov MU, Zwart R, Ilgun A, Guo D, Clur SB, 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 MP, Milewicz DM, Posthuma D, Meijers-Heijboer H, Postma AV, Mathijssen IB. van Walree ES, et al. Among authors: wilsdon a. Genet Med. 2021 Jan;23(1):103-110. doi: 10.1038/s41436-020-00939-4. Epub 2020 Aug 21. Genet Med. 2021. PMID: 32820247 Free PMC article.
Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease.
Izarzugaza JMG, Ellesøe SG, Doganli C, Ehlers NS, Dalgaard MD, Audain E, Dombrowsky G, Banasik K, Sifrim A, Wilsdon A, Thienpont B, Breckpot J, Gewillig M; Competence Network for Congenital Heart Defects, Germany; Brook JD, Hitz MP, Larsen LA, Brunak S. Izarzugaza JMG, et al. Among authors: wilsdon a. Genome Med. 2020 Aug 28;12(1):76. doi: 10.1186/s13073-020-00772-z. Genome Med. 2020. PMID: 32859249 Free PMC article.
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Škorić-Milosavljević D, Lahrouchi N, Bosada FM, Dombrowsky G, Williams SG, Lesurf R, Tjong FVY, Walsh R, El Bouchikhi I, Breckpot J, Audain E, Ilgun A, Beekman L, Ratbi I, Strong A, Muenke M, Heide S, Muir AM, Hababa M, Cross L, Zhou D, Pastinen T; German Competence Network for Congenital Heart Defects; Zackai E, Atmani S, Ouldim K, Adadi N, Steindl K, Rauch A, Brook D, Wilsdon A, Kuipers I, Blom NA, Mulder BJ, Mefford HC, Keren B, Joset P, Kruszka P, Thiffault I, Sheppard SE, Roberts A, Lodder EM, Keavney BD, Clur SB, Mital S, Hitz MP, Christoffels VM, Postma AV, Bezzina CR. Škorić-Milosavljević D, et al. Among authors: wilsdon a. Genet Med. 2021 Oct;23(10):1952-1960. doi: 10.1038/s41436-021-01212-y. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113005 Free PMC article.
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
Audain E, Wilsdon A, Breckpot J, Izarzugaza JMG, Fitzgerald TW, Kahlert AK, Sifrim A, Wünnemann F, Perez-Riverol Y, Abdul-Khaliq H, Bak M, Bassett AS, Benson DW, Berger F, Daehnert I, Devriendt K, Dittrich S, Daubeney PE, Garg V, Hackmann K, Hoff K, Hofmann P, Dombrowsky G, Pickardt T, Bauer U, Keavney BD, Klaassen S, Kramer HH, Marshall CR, Milewicz DM, Lemaire S, Coselli JS, Mitchell ME, Tomita-Mitchell A, Prakash SK, Stamm K, Stewart AFR, Silversides CK, Siebert R, Stiller B, Rosenfeld JA, Vater I, Postma AV, Caliebe A, Brook JD, Andelfinger G, Hurles ME, Thienpont B, Larsen LA, Hitz MP. Audain E, et al. Among authors: wilsdon a. PLoS Genet. 2021 Jul 29;17(7):e1009679. doi: 10.1371/journal.pgen.1009679. eCollection 2021 Jul. PLoS Genet. 2021. PMID: 34324492 Free PMC article.
Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Škorić-Milosavljević D, Lahrouchi N, Bosada FM, Dombrowsky G, Williams SG, Lesurf R, Tjong FVY, Walsh R, El Bouchikhi I, Breckpot J, Audain E, Ilgun A, Beekman L, Ratbi I, Strong A, Muenke M, Heide S, Muir AM, Hababa M, Cross L, Zhou D, Pastinen T; German Competence Network for Congenital Heart Defects; Zackai E, Atmani S, Ouldim K, Adadi N, Steindl K, Rauch A, Brook D, Wilsdon A, Kuipers I, Blom NA, Mulder BJ, Mefford HC, Keren B, Joset P, Kruszka P, Thiffault I, Sheppard SE, Roberts A, Lodder EM, Keavney BD, Clur SB, Mital S, Hitz MP, Christoffels VM, Postma AV, Bezzina CR. Škorić-Milosavljević D, et al. Among authors: wilsdon a. Genet Med. 2021 Oct;23(10):2013. doi: 10.1038/s41436-021-01279-7. Genet Med. 2021. PMID: 34522030 Free PMC article. No abstract available.
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
Audain E, Wilsdon A, Breckpot J, Izarzugaza JMG, Fitzgerald TW, Kahlert AK, Sifrim A, Wünnemann F, Perez-Riverol Y, Abdul-Khaliq H, Bak M, Bassett AS, Benson DW, Berger F, Daehnert I, Devriendt K, Dittrich S, Daubeney PE, Garg V, Hackmann K, Hoff K, Hofmann P, Dombrowsky G, Pickardt T, Bauer U, Keavney BD, Klaassen S, Kramer HH, Marshall CR, Milewicz DM, Lemaire S, Coselli JS, Mitchell ME, Tomita-Mitchell A, Prakash SK, Stamm K, Stewart AFR, Silversides CK, Siebert R, Stiller B, Rosenfeld JA, Vater I, Postma AV, Caliebe A, Brook JD, Andelfinger G, Hurles ME, Thienpont B, Larsen LA, Hitz MP. Audain E, et al. Among authors: wilsdon a. PLoS Genet. 2021 Sep 21;17(9):e1009809. doi: 10.1371/journal.pgen.1009809. eCollection 2021 Sep. PLoS Genet. 2021. PMID: 34547032 Free PMC article.
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.
van Walree ES, Dombrowsky G, Jansen IE, Umićević Mirkov M, Zwart R, Ilgun A, Guo D, Clur SB, 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 MP, Milewicz DM, Posthuma D, Meijers-Heijboer H, Postma AV, Mathijssen IB. van Walree ES, et al. Among authors: wilsdon a. Genet Med. 2022 Apr;24(4):965. doi: 10.1016/j.gim.2022.01.018. Genet Med. 2022. PMID: 35394427 Free article. No abstract available.
31 results