Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Jon, Jonasson"'
Publikováno v:
SoftwareX, Vol 24, Iss , Pp 101530- (2023)
We developed an efficient approach to diagnostic copy number analysis of targeted gene panel or whole exome sequence (WES) data. Here we present CNV-Z as a new tool for detection of copy number variants (CNVs). Deletions and duplications of chromosom
Externí odkaz:
https://doaj.org/article/116fbb08b8a244328253bd6c85387a23
Autor:
Abdimajid Osman, Jon Jonasson
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-11 (2022)
Abstract A majority of studies reporting human genetic variants were performed in populations of European ancestry whereas other global populations, and particularly many ethnolinguistic groups in other continents, are heavily underrepresented in the
Externí odkaz:
https://doaj.org/article/2a5462ebb9324869a4d5101475f8cce0
Autor:
Antheia Kissopoulou, Eva Fernlund, Christina Holmgren, Eira Isaksson, Jan‐Erik Karlsson, Henrik Green, Jon Jonasson, Rada Ellegård, Hanna Klang Årstrand, Anneli Svensson, Cecilia Gunnarsson
Publikováno v:
ESC Heart Failure, Vol 7, Iss 3, Pp 1210-1216 (2020)
Abstract Myocarditis most often affects otherwise healthy athletes and is one of the leading causes of sudden death in children and young adults. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined heart muscle disorder
Externí odkaz:
https://doaj.org/article/92cfb6bf59f7473f9328079f3ea55a89
Autor:
Karolina Engström, Farkas Vánky, Malin Rehnberg, Cecilia Trinks, Jon Jonasson, Anna Green, Cecilia Gunnarsson
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Abstract Background Pathogenic variants in the SMAD3 gene affecting the TGF‐β/SMAD3 signaling pathway with aortic vessel involvement cause Loeys‐Dietz syndrome 3, also known as aneurysms–osteoarthritis syndrome. Methods Description of clinical
Externí odkaz:
https://doaj.org/article/c1d3e3af07a44958ab05b8eaf7f1c46c
Autor:
Ellika Sahlin, Anna Gréen, Peter Gustavsson, Agne Liedén, Magnus Nordenskjöld, Nikos Papadogiannakis, Karin Pettersson, Daniel Nilsson, Jon Jonasson, Erik Iwarsson
Publikováno v:
PLoS ONE, Vol 14, Iss 1, p e0210017 (2019)
The incidence of stillbirth in Sweden has essentially remained constant since the 1980's, and despite thorough investigation, many cases remain unexplained. It has been suggested that a proportion of stillbirth cases is caused by heart disease, mainl
Externí odkaz:
https://doaj.org/article/5cd0933b4831411ea6ffe7d07dac66f3
Forensic molecular autopsies have emerged as a tool for medical examiners to establish the cause of death. It is particularly useful in sudden unexplained deaths where the cause of death cannot be determined with a regular medical autopsy. We provide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a9d3108dbffd2c8bdbf5bb099122973
http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-190210
http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-190210
Autor:
Eva Fernlund, Antheia Kissopoulou, Henrik Green, Jan-Erik Karlsson, Rada Ellegård, Hanna Klang Årstrand, Jon Jonasson, Cecilia Gunnarsson
Publikováno v:
Genes, Vol 11, Iss 12, p 1472 (2020)
Introduction: Sudden cardiac death (SCD) and early onset cardiomyopathy (CM) in the young will always lead to suspicion of an underlying genetic disorder. Incited by the rapid advances in genetic testing for disease we have revisited families, which
Externí odkaz:
https://doaj.org/article/fdd783dfa767473288ad81dd59857dbd
Autor:
Emma, Adolfsson, Daniel, Kling, Cecilia, Gunnarsson, Jon, Jonasson, Henrik, Gréen, Anna, Gréen
Publikováno v:
International journal of legal medicine.
Forensic molecular autopsies have emerged as a tool for medical examiners to establish the cause of death. It is particularly useful in sudden unexplained deaths where the cause of death cannot be determined with a regular medical autopsy. We provide
Autor:
Eira Isaksson, Eva Fernlund, Cecilia Gunnarsson, Hanna Klang Årstrand, Christina Holmgren, Rada Ellegård, Jan Erik Karlsson, Jon Jonasson, Henrik Gréen, Anneli Svensson, Antheia Kissopoulou
Publikováno v:
ESC Heart Failure
ESC Heart Failure, Vol 7, Iss 3, Pp 1210-1216 (2020)
ESC Heart Failure, Vol 7, Iss 3, Pp 1210-1216 (2020)
Myocarditis most often affects otherwise healthy athletes and is one of the leading causes of sudden death in children and young adults. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined heart muscle disorder with inc
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
Scientific Reports
Scientific Reports
African populations are underrepresented in medical genomics studies. For the Somali population, there is virtually no information on genomic markers with significance to precision medicine. Here, we analyzed nearly 900,000 genomic markers in samples