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Multifaceted analysis of noncoding and coding de novo variants implicates NOTCH signaling pathway in tetralogy of Fallot in Chinese population.

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Title: Multifaceted analysis of noncoding and coding de novo variants implicates NOTCH signaling pathway in tetralogy of Fallot in Chinese population.
Authors: Lin Q; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Zhang D; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Gruber PJ; Department of Cell and Molecular Biology, Karolinska Institutet, Stockholm, Sweden; Department of Surgery, Yale University School of Medicine, New Haven, CT, USA., Tam PK; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China; Faculty of Medicine, Macau University of Science and Technology, Macao, China., Lui VC; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Wu Z; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Hong H; Department of Cardiothoracic Surgery, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Chien KR; Department of Cell and Molecular Biology, Karolinska Institutet, Stockholm, Sweden., Sham PC; Department of Psychiatry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China. Electronic address: pcsham@hku.hk., Tang CS; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China; Dr Li Dak-Sum Research Centre, The University of Hong Kong - Karolinska Institutet Collaboration in Regenerative Medicine, Hong Kong, China. Electronic address: claratang@hku.hk.
Source: HGG advances [HGG Adv] 2025 Apr 10; Vol. 6 (2), pp. 100414. Date of Electronic Publication: 2025 Feb 06.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Lin+Q%22">Lin Q</searchLink>; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Zhang+D%22">Zhang D</searchLink>; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Gruber+PJ%22">Gruber PJ</searchLink>; Department of Cell and Molecular Biology, Karolinska Institutet, Stockholm, Sweden; Department of Surgery, Yale University School of Medicine, New Haven, CT, USA.<br /><searchLink fieldCode="AU" term="%22Tam+PK%22">Tam PK</searchLink>; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China; Faculty of Medicine, Macau University of Science and Technology, Macao, China.<br /><searchLink fieldCode="AU" term="%22Lui+VC%22">Lui VC</searchLink>; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Wu+Z%22">Wu Z</searchLink>; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Hong+H%22">Hong H</searchLink>; Department of Cardiothoracic Surgery, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Chien+KR%22">Chien KR</searchLink>; Department of Cell and Molecular Biology, Karolinska Institutet, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Sham+PC%22">Sham PC</searchLink>; Department of Psychiatry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China. Electronic address: pcsham@hku.hk.<br /><searchLink fieldCode="AU" term="%22Tang+CS%22">Tang CS</searchLink>; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China; Dr Li Dak-Sum Research Centre, The University of Hong Kong - Karolinska Institutet Collaboration in Regenerative Medicine, Hong Kong, China. Electronic address: claratang@hku.hk.
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        Value: 10.1016/j.xhgg.2025.100414
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              Text: 2025 Apr 10
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