Single center experience with diagnostic whole genome sequencing in 70 patients with rare diseases

Research output: Contribution to journal › Meeting abstract › Contributed › peer-review

Contributors

Doreen William - , Institute of Clinical Genetics (Author)
Zarah Kowalzyk - , Institute of Clinical Genetics (Author)
Karl Hackmann - , Institute of Clinical Genetics (Author)
Marion Bermudez - , Hereditary Cancer Syndrome Center (Author)
Oliver Kutz - , Institute of Clinical Genetics (Author)
Samira Zarvandi - , Institute of Clinical Genetics (Author)
Jan Fischer - , Institute of Clinical Genetics (Author)
Arne Jahn - , Institute of Clinical Genetics (Author)
Marcus Franke - , Institute of Clinical Genetics (Author)
Maria Constanza Roa Bravo - , Institute of Clinical Genetics (Author)
Lydia Rossow - , Hereditary Cancer Syndrome Center (Author)
Ann-Selin Onuk - , Hereditary Cancer Syndrome Center (Author)
Sylvia Huetter - , Institute of Clinical Genetics (Author)
Joseph Porrmann - , Institute of Clinical Genetics (Author)
Jens Schallner - , Department of Paediatrics, Division of Neuropediatrics, Department of Paediatrics (Author)
Tanita Kretschmer - , University Center for Rare Diseases (Author)
Catharina Schuetz - , Department of Paediatrics (Author)
Min Ae Lee-Kirsch - , Department of Paediatrics, University Center for Rare Diseases (Author)
Reinhard Berner - , Department of Paediatrics, University Center for Rare Diseases (Author)
Evelin Schroeck - , Institute of Clinical Genetics (Author)
Nataliya Di Donato - , University Cancer Centre Dresden (Author)

Original language	English
Pages (from-to)	292
Journal	European journal of human genetics
Volume	32
Issue number	Suppl 1
Publication status	Published - Jan 2024
Peer-reviewed	Yes

WOS	001147414901238
Mendeley	8e603654-1c8b-37d7-b16c-a6022d75aed5