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Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
J Clin Invest. 2021 Mar 1;131(5):e142148. doi: 10.1172/JCI142148.
J Clin Invest. 2021.
PMID: 33645542
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: hababa m.
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.
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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: hababa m.
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.
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Genetic variation in GNB5 causes bradycardia by augmenting the cholinergic response via increased acetylcholine-activated potassium current (IK,ACh).
Veerman CC, Mengarelli I, Koopman CD, Wilders R, van Amersfoorth SC, Bakker D, Wolswinkel R, Hababa M, de Boer TP, Guan K, Milnes J, Lodder EM, Bakkers J, Verkerk AO, Bezzina CR.
Veerman CC, et al. Among authors: hababa m.
Dis Model Mech. 2019 Jul 9;12(7):dmm037994. doi: 10.1242/dmm.037994.
Dis Model Mech. 2019.
PMID: 31208990
Free PMC article.
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