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Genetic strategies for negative or variant of uncertain significance findings in exome sequencing in hereditary bronchiectasis: a case series.

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Title: Genetic strategies for negative or variant of uncertain significance findings in exome sequencing in hereditary bronchiectasis: a case series.
Authors: Zhou W; Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.; State Key Laboratory of Common Mechanism Research of Major Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China., Li Y; Center for Rare Diseases, The State Key Laboratory for Complex, Severe, and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China., Chen Q; Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China., Wang Y; Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China., Li A; Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China., Lu W; Center for Rare Diseases, The State Key Laboratory for Complex, Severe, and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China., Li X; Biobank Facility, National Infrastructures for Translational Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Peking Union Medical College, Beijing, China., Xu KF; Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China., Zhang X; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China., Liu Y; Center for Rare Diseases, The State Key Laboratory for Complex, Severe, and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, #1 Shuaifuyuan, Wangfujing, Beijing 100730, China., Tian X; Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, #1 Shuaifuyuan, Wangfujing, Beijing 100730, China.; State Key Laboratory of Common Mechanism Research of Major Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.
Source: Therapeutic advances in respiratory disease [Ther Adv Respir Dis] 2026 Jan-Dec; Vol. 20, pp. 17534666261422041. Date of Electronic Publication: 2026 Feb 28.
Publication Type: Journal Article; Case Reports; Research Support, Non-U.S. Gov't
Journal Info: Publisher: SAGE Publications Country of Publication: England NLM ID: 101316317 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1753-4666 (Electronic) Linking ISSN: 17534658 NLM ISO Abbreviation: Ther Adv Respir Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Genetic strategies for negative or variant of uncertain significance findings in exome sequencing in hereditary bronchiectasis: a case series.
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  Data: <searchLink fieldCode="AU" term="%22Zhou+W%22">Zhou W</searchLink>; Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.; State Key Laboratory of Common Mechanism Research of Major Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Li+Y%22">Li Y</searchLink>; Center for Rare Diseases, The State Key Laboratory for Complex, Severe, and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Chen+Q%22">Chen Q</searchLink>; Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Wang+Y%22">Wang Y</searchLink>; Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Li+A%22">Li A</searchLink>; Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Lu+W%22">Lu W</searchLink>; Center for Rare Diseases, The State Key Laboratory for Complex, Severe, and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Li+X%22">Li X</searchLink>; Biobank Facility, National Infrastructures for Translational Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Peking Union Medical College, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Xu+KF%22">Xu KF</searchLink>; Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Zhang+X%22">Zhang X</searchLink>; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Liu+Y%22">Liu Y</searchLink>; Center for Rare Diseases, The State Key Laboratory for Complex, Severe, and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, #1 Shuaifuyuan, Wangfujing, Beijing 100730, China.<br /><searchLink fieldCode="AU" term="%22Tian+X%22">Tian X</searchLink>; Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, #1 Shuaifuyuan, Wangfujing, Beijing 100730, China.; State Key Laboratory of Common Mechanism Research of Major Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22SAGE+Publications%22">SAGE Publications </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101316317 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1753-4666 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217534658%22">17534658 </searchLink><i>NLM ISO Abbreviation: </i>Ther Adv Respir Dis <i>Subsets: </i>MEDLINE
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        Value: 10.1177/17534666261422041
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        Text: English
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        StartPage: 17534666261422041
    Titles:
      – TitleFull: Genetic strategies for negative or variant of uncertain significance findings in exome sequencing in hereditary bronchiectasis: a case series.
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            – D: 01
              M: 01
              Text: 2026 Jan-Dec
              Type: published
              Y: 2026
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