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1. Additional file 2: Table S1. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar, Hansdottir, Sif, Gudny Arnadottir, Sulem, Gerald, Kristjansson, Ragnar, Asmundur Oddsson, Benonisdottir, Stefania, Hakon Jonsson, Helgason, Agnar, Saemundsdottir, Jona, Olafur Magnusson, Gisli Masson, Gudmundur Thorisson, Adalbjorg Jonasdottir, Jonasdottir, Aslaug, Asgeir Sigurdsson, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, and Stefansson, Kari

Subjects
population characteristics, macromolecular substances, geographic locations, humanities
Abstract

Pulmonary function test results from the three affected Icelanders with several years passing between the two tests. (DOCX 13Â kb)

Published
2017
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2. Additional file 5: Table S2. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar, Hansdottir, Sif, Gudny Arnadottir, Sulem, Gerald, Kristjansson, Ragnar, Asmundur Oddsson, Benonisdottir, Stefania, Hakon Jonsson, Helgason, Agnar, Saemundsdottir, Jona, Olafur Magnusson, Gisli Masson, Gudmundur Thorisson, Adalbjorg Jonasdottir, Jonasdottir, Aslaug, Asgeir Sigurdsson, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, and Stefansson, Kari

Abstract

Additional clinical features. Autoimmune and rheumatological features as well as antibody titers for the three patients. The medications and general measures taken to treat the patients are listed. (DOCX 13Â kb)

Published
2017
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3. Additional file 8: Table S3. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar, Hansdottir, Sif, Gudny Arnadottir, Sulem, Gerald, Kristjansson, Ragnar, Asmundur Oddsson, Benonisdottir, Stefania, Hakon Jonsson, Helgason, Agnar, Saemundsdottir, Jona, Olafur Magnusson, Gisli Masson, Gudmundur Thorisson, Adalbjorg Jonasdottir, Jonasdottir, Aslaug, Asgeir Sigurdsson, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, and Stefansson, Kari

Subjects
population characteristics, respiratory system, geographic locations, humanities
Abstract

COPA mutation. Summary of the causative mutation causing the lung disease in the Icelandic family. (DOCX 19Â kb)

Published
2017
Full Text
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4. Additional file 10: Table S5. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar, Hansdottir, Sif, Gudny Arnadottir, Sulem, Gerald, Kristjansson, Ragnar, Asmundur Oddsson, Benonisdottir, Stefania, Hakon Jonsson, Helgason, Agnar, Saemundsdottir, Jona, Olafur Magnusson, Gisli Masson, Gudmundur Thorisson, Adalbjorg Jonasdottir, Jonasdottir, Aslaug, Asgeir Sigurdsson, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, and Stefansson, Kari

Abstract

Coding variants with MAFÂ

Published
2017
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5. Additional file 4: Figure S3. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar, Hansdottir, Sif, Gudny Arnadottir, Sulem, Gerald, Kristjansson, Ragnar, Asmundur Oddsson, Benonisdottir, Stefania, Hakon Jonsson, Helgason, Agnar, Saemundsdottir, Jona, Olafur Magnusson, Gisli Masson, Gudmundur Thorisson, Adalbjorg Jonasdottir, Jonasdottir, Aslaug, Asgeir Sigurdsson, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, and Stefansson, Kari

Subjects
respiratory system, respiratory tract diseases
Abstract

Lung biopsy section from the daughter of the index case (III-2) stained with hematoxylin and eosin. Multiple lymphoid follicles in the interstitium and adjacent to airways (arrow). (DOCX 856Â kb)

Published
2017
Full Text
View/download PDF

6. Additional file 2: Table S1. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar, Hansdottir, Sif, Gudny Arnadottir, Sulem, Gerald, Kristjansson, Ragnar, Asmundur Oddsson, Benonisdottir, Stefania, Hakon Jonsson, Helgason, Agnar, Saemundsdottir, Jona, Olafur Magnusson, Gisli Masson, Gudmundur Thorisson, Adalbjorg Jonasdottir, Jonasdottir, Aslaug, Asgeir Sigurdsson, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, and Stefansson, Kari

Subjects
population characteristics, macromolecular substances, geographic locations, humanities
Abstract

Pulmonary function test results from the three affected Icelanders with several years passing between the two tests. (DOCX 13Â kb)

Published
2017
Full Text
View/download PDF

7. Additional file 5: Table S2. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar, Hansdottir, Sif, Gudny Arnadottir, Sulem, Gerald, Kristjansson, Ragnar, Asmundur Oddsson, Benonisdottir, Stefania, Hakon Jonsson, Helgason, Agnar, Saemundsdottir, Jona, Olafur Magnusson, Gisli Masson, Gudmundur Thorisson, Adalbjorg Jonasdottir, Jonasdottir, Aslaug, Asgeir Sigurdsson, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, and Stefansson, Kari

Abstract

Additional clinical features. Autoimmune and rheumatological features as well as antibody titers for the three patients. The medications and general measures taken to treat the patients are listed. (DOCX 13Â kb)

Published
2017
Full Text
View/download PDF

8. Additional file 6: Supplementary Information. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar, Hansdottir, Sif, Gudny Arnadottir, Sulem, Gerald, Kristjansson, Ragnar, Asmundur Oddsson, Benonisdottir, Stefania, Hakon Jonsson, Helgason, Agnar, Saemundsdottir, Jona, Olafur Magnusson, Gisli Masson, Gudmundur Thorisson, Adalbjorg Jonasdottir, Jonasdottir, Aslaug, Asgeir Sigurdsson, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, and Stefansson, Kari

Abstract

Detailed description of methods (sample preparation, whole-genome sequencing, alignment, variant calling and annotation) and the genetic analysis performed in this study (Additional file 10: Table S5). (DOCX 23 kb)

Published
2017
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9. Additional file 8: Table S3. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar, Hansdottir, Sif, Gudny Arnadottir, Sulem, Gerald, Kristjansson, Ragnar, Asmundur Oddsson, Benonisdottir, Stefania, Hakon Jonsson, Helgason, Agnar, Saemundsdottir, Jona, Olafur Magnusson, Gisli Masson, Gudmundur Thorisson, Adalbjorg Jonasdottir, Jonasdottir, Aslaug, Asgeir Sigurdsson, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, and Stefansson, Kari

Subjects
population characteristics, respiratory system, geographic locations, humanities
Abstract

COPA mutation. Summary of the causative mutation causing the lung disease in the Icelandic family. (DOCX 19Â kb)

Published
2017
Full Text
View/download PDF

10. Additional file 3: Figure S2. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar, Hansdottir, Sif, Gudny Arnadottir, Sulem, Gerald, Kristjansson, Ragnar, Asmundur Oddsson, Benonisdottir, Stefania, Hakon Jonsson, Helgason, Agnar, Saemundsdottir, Jona, Olafur Magnusson, Gisli Masson, Gudmundur Thorisson, Adalbjorg Jonasdottir, Jonasdottir, Aslaug, Asgeir Sigurdsson, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, and Stefansson, Kari

Subjects
respiratory system
Abstract

Lung biopsy section from the son of the index case (III-1) stained with hematoxylin and eosin. Multiple lymphoid follicles in the pulmonary interstitium and adjacent to a terminal bronchiole (arrow). (DOCX 906Â kb)

Published
2017
Full Text
View/download PDF

11. Additional file 7: Figure S4. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar, Hansdottir, Sif, Gudny Arnadottir, Sulem, Gerald, Kristjansson, Ragnar, Asmundur Oddsson, Benonisdottir, Stefania, Hakon Jonsson, Helgason, Agnar, Saemundsdottir, Jona, Olafur Magnusson, Gisli Masson, Gudmundur Thorisson, Adalbjorg Jonasdottir, Jonasdottir, Aslaug, Asgeir Sigurdsson, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, and Stefansson, Kari

Abstract

Variant filtering flowchart. We detected an average of 4,942,809 coding and non-coding variants per affected member of the family. Sixteen variants with MAF

Published
2017
Full Text
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12. Additional file 7: Figure S4. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar, Hansdottir, Sif, Gudny Arnadottir, Sulem, Gerald, Kristjansson, Ragnar, Asmundur Oddsson, Benonisdottir, Stefania, Hakon Jonsson, Helgason, Agnar, Saemundsdottir, Jona, Olafur Magnusson, Gisli Masson, Gudmundur Thorisson, Adalbjorg Jonasdottir, Jonasdottir, Aslaug, Asgeir Sigurdsson, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, and Stefansson, Kari

Abstract

Variant filtering flowchart. We detected an average of 4,942,809 coding and non-coding variants per affected member of the family. Sixteen variants with MAF

Published
2017
Full Text
View/download PDF

13. Additional file 9: Table S4. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar, Hansdottir, Sif, Gudny Arnadottir, Sulem, Gerald, Kristjansson, Ragnar, Asmundur Oddsson, Benonisdottir, Stefania, Hakon Jonsson, Helgason, Agnar, Saemundsdottir, Jona, Olafur Magnusson, Gisli Masson, Gudmundur Thorisson, Adalbjorg Jonasdottir, Jonasdottir, Aslaug, Asgeir Sigurdsson, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, and Stefansson, Kari

Abstract

Sequencing data metrics for the COPA mutation. The call ratios of the COPA mutation for the index case, affected son and daughter, and unaffected husband, mother, and father from the WGS data. Additionally, the Sanger sequencing genotypes for the three siblings of the index case are listed. (DOCX 13Â kb)

Published
2017
Full Text
View/download PDF

14. Additional file 4: Figure S3. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar, Hansdottir, Sif, Gudny Arnadottir, Sulem, Gerald, Kristjansson, Ragnar, Asmundur Oddsson, Benonisdottir, Stefania, Hakon Jonsson, Helgason, Agnar, Saemundsdottir, Jona, Olafur Magnusson, Gisli Masson, Gudmundur Thorisson, Adalbjorg Jonasdottir, Jonasdottir, Aslaug, Asgeir Sigurdsson, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, and Stefansson, Kari

Subjects
respiratory system, respiratory tract diseases
Abstract

Lung biopsy section from the daughter of the index case (III-2) stained with hematoxylin and eosin. Multiple lymphoid follicles in the interstitium and adjacent to airways (arrow). (DOCX 856Â kb)

Published
2017
Full Text
View/download PDF

15. Additional file 3: Figure S2. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar, Hansdottir, Sif, Gudny Arnadottir, Sulem, Gerald, Kristjansson, Ragnar, Asmundur Oddsson, Benonisdottir, Stefania, Hakon Jonsson, Helgason, Agnar, Saemundsdottir, Jona, Olafur Magnusson, Gisli Masson, Gudmundur Thorisson, Adalbjorg Jonasdottir, Jonasdottir, Aslaug, Asgeir Sigurdsson, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, and Stefansson, Kari

Subjects
respiratory system
Abstract

Lung biopsy section from the son of the index case (III-1) stained with hematoxylin and eosin. Multiple lymphoid follicles in the pulmonary interstitium and adjacent to a terminal bronchiole (arrow). (DOCX 906Â kb)

Published
2017
Full Text
View/download PDF

16. Additional file 9: Table S4. of COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Author

Jensson, Brynjar, Hansdottir, Sif, Gudny Arnadottir, Sulem, Gerald, Kristjansson, Ragnar, Asmundur Oddsson, Benonisdottir, Stefania, Hakon Jonsson, Helgason, Agnar, Saemundsdottir, Jona, Olafur Magnusson, Gisli Masson, Gudmundur Thorisson, Adalbjorg Jonasdottir, Jonasdottir, Aslaug, Asgeir Sigurdsson, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, and Stefansson, Kari

Abstract

Sequencing data metrics for the COPA mutation. The call ratios of the COPA mutation for the index case, affected son and daughter, and unaffected husband, mother, and father from the WGS data. Additionally, the Sanger sequencing genotypes for the three siblings of the index case are listed. (DOCX 13Â kb)

Published
2017
Full Text
View/download PDF

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