Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA

Autor: Xiao, Sihao, Kai, Zhentian, Murphy, Daniel, Li, Dongyang, Patel, Dilip, Bielowka, Adrianna M., Bernabeu-Herrero, Maria E., Abdulmogith, Awatif, Mumford, Andrew D., Westbury, Sarah K., Aldred, Micheala A., Vargesson, Neil, Caulfield, Mark J., Shovlin, Claire L.

Publikováno v: In The American Journal of Human Genetics 2 November 2023 110(11):1903-1918

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Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

Autor: Balachandar, Srimmitha, Graves, Tamara J, Shimonty, Anika, Kerr, Katie, Kilner, Jill, Xiao, Sihao, Slade, Richard, Sroya, Manveer, Alikian, Mary, Curetean, Emanuel, Thomas, Ellen, McConnell, Vivienne, McKee, Shane, Boardman-Pretty, Freya, Devereau, Andrew, Fowler, Tom A, Caulfield, Mark J, Alton, Eric W, Ferguson, Teena, Redhead, Julian, McKnight, Amy J., Thomas, Geraldine A, Research Consortium, Genomics England, Aldred, Micheala A, Shovlin, Claire L

Publikováno v: Balachandar, S, Graves, T J, Shimonty, A, Kerr, K, Kilner, J, Xiao, S, Slade, R, Sroya, M, Alikian, M, Curetean, E, Thomas, E, McConnell, V, McKee, S, Boardman-Pretty, F, Devereau, A, Fowler, T A, Caulfield, M J, Alton, E W, Ferguson, T, Redhead, J, McKnight, A J, Thomas, G A, Research Consortium, G E, Aldred, M A & Shovlin, C L 2022, ' Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations ', American Journal of Medical Genetics A, vol. 188, no. 3, pp. 959-964 . https://doi.org/10.1002/ajmg.a.62584

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant multisystemic vascular dysplasia, characterized by arteriovenous malformations (AVMs), mucocutaneous telangiectasia and nosebleeds. HHT is caused by a heterozygous null allele in AC

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2607::9ba662d2a30f6a66ae792b6d17757213
https://pure.qub.ac.uk/en/publications/b57c8db3-e414-4c81-802f-d796d520de2e

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Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.

Autor: Balachandar S; Division of Pulmonary, Critical Care, Sleep and Occupational Medicine, Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA., Graves TJ; Division of Pulmonary, Critical Care, Sleep and Occupational Medicine, Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA., Shimonty A; Division of Pulmonary, Critical Care, Sleep and Occupational Medicine, Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA., Kerr K; School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, Belfast, UK., Kilner J; School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, Belfast, UK., Xiao S; National Heart and Lung Institute, Imperial College London, London, UK.; Genomics England Respiratory Clinical Interpretation Partnership (GeCIP), London, UK., Slade R; National Heart and Lung Institute, Imperial College London, London, UK.; Genomics England Respiratory Clinical Interpretation Partnership (GeCIP), London, UK., Sroya M; Department of Surgery and Cancer, Imperial College London, London, UK., Alikian M; Genomics England Respiratory Clinical Interpretation Partnership (GeCIP), London, UK.; West London Genomic Medicine Centre, Imperial College Healthcare NHS Trust, London, UK., Curetean E; West London Genomic Medicine Centre, Imperial College Healthcare NHS Trust, London, UK., Thomas E; West London Genomic Medicine Centre, Imperial College Healthcare NHS Trust, London, UK.; Genomics England, London, UK., McConnell VPM; Regional Genetics Service, Belfast Health and Social Care Trust, Belfast, UK., McKee S; Regional Genetics Service, Belfast Health and Social Care Trust, Belfast, UK., Boardman-Pretty F; Genomics England, London, UK., Devereau A; Genomics England, London, UK., Fowler TA; Genomics England, London, UK.; William Harvey Research Institute, Queen Mary University of London, London, UK., Caulfield MJ; Genomics England, London, UK.; William Harvey Research Institute, Queen Mary University of London, London, UK., Alton EW; National Heart and Lung Institute, Imperial College London, London, UK.; Genomics England Respiratory Clinical Interpretation Partnership (GeCIP), London, UK., Ferguson T; West London Genomic Medicine Centre, Imperial College Healthcare NHS Trust, London, UK., Redhead J; West London Genomic Medicine Centre, Imperial College Healthcare NHS Trust, London, UK., McKnight AJ; School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, Belfast, UK.; Genomics England Respiratory Clinical Interpretation Partnership (GeCIP), London, UK., Thomas GA; Department of Surgery and Cancer, Imperial College London, London, UK., Aldred MA; Division of Pulmonary, Critical Care, Sleep and Occupational Medicine, Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Genomics England Respiratory Clinical Interpretation Partnership (GeCIP), London, UK., Shovlin CL; National Heart and Lung Institute, Imperial College London, London, UK.; Genomics England Respiratory Clinical Interpretation Partnership (GeCIP), London, UK.; West London Genomic Medicine Centre, Imperial College Healthcare NHS Trust, London, UK.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Mar; Vol. 188 (3), pp. 959-964. Date of Electronic Publication: 2021 Dec 13.