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个人简介
Professor in clinical genetics at the Karolinska Institutet and a consultant in Clinical Genetics at the Karolinska University Hospital (both in Stockholm, Sweden). Head of the Clinical Genetics diagnostic laboratory (Karolinska University Hospital) and group leader for Rare Diseases research group at the Department of Molecular Medicine and Surgery (Karolinska Institutet).
Main area of research is the study of rare genetic diseases, both clinically and at the molecular level to improve genetic diagnostics, increase knowledge about genotype-phenotype correlations and further understanding of disease biology. In particular, I have a longstanding interest in structural genomic variation (SV), both how SVs arise and how they cause human genetic disease. To pinpoint the breakpoint junctions we use DNA (and sometimes RNA) analysis through a variety of next generation sequencing (NGS) platforms. Genetic findings are followed up with detailed clinical assessments together with functional studies in vivo (zebrafish) and in vitro (primary cells). Recently, we also started model human brain disorders in neurons derived from induced pluripotent stem cells (iPSCs). Results are often returned directly to the families and used for personalized clinical management, carrier testing and prenatal diagnosis.
研究兴趣
论文共 159 篇作者统计合作学者相似作者
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Josephine Wincent,Hafdís T Helgadóttir,Fotios Sergouniotis, Angelo Salazar Mantero,Claudia M B Carvalho,Helena Malmgren,Anna Lindstrand,Erik Iwarsson
Acta obstetricia et gynecologica Scandinavica (2024)
Kristine Bilgrav Saether,Jesper Eisfeldt,Jesse Bengtsson, Ming Yin Lun,Christopher M Grochowski,Medhat Mahmoud,Hsiao-Tuan Chao,Jill A Rosenfeld,Pengfei Liu,Jakob Schuy,Adam Ameur, Undiagnosed Diseases Network,
medRxiv : the preprint server for health sciences (2024)
Journal of internal medicineno. 4 (2023): 397-412
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2023)
EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 348-349
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Emma Ehn,Jesper Eisfeldt,Hakan Thonberg, Jose Laffita,Jacqueline Schoumans,Anne Remes,Matti Viitanen,Anna Lindstrand, Inger Nennesemo,Caroline Graff
EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 469-469
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