基本信息
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Career Trajectory
Bio
I am Professor and Consultant in Clinical Genetics in Stockholm, Sweden. Currently I am the 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). My specific area of interest is the study of structural human genomic variation, its biological consequences and involvement in rare and common human disorders.
Research Interests
Papers共 150 篇Author StatisticsCo-AuthorSimilar Experts
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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 Scandinavicano. 8 (2024): 1564-1569
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecologyno. 5 (2024): 658-663
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, James Paul Hwang,Fritz J Sedlazeck,Weimin Bi,Ronit Marom,Ann Nordgren,Claudia M B Carvalho,Anna Lindstrand
medRxiv : the preprint server for health sciences (2024)
Genetics in medicine openpp.101863-101863, (2024)
crossref(2024)
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2023)
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Author Statistics
#Papers: 150
#Citation: 2976
H-Index: 29
G-Index: 53
Sociability: 7
Diversity: 0
Activity: 2
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