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Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors

The Journal of Pathology 2021
Sabatella M. et al

 

Mariangela Sabatella
1*
, Tuomo Mantere
2,3,4*
, Esmé Waanders
5
, Kornelia Neveling
2
, Arjen R.
Mensenkamp
2,3
, Freerk van Dijk
1
, Jayne Y. HehirKwa
1
, Ronnie Derks
2,3
, Michael Kwint
2,3
,
Luke O’Gorman
2,3
, Madalena Tropa Martins
1
, Corrie E.M. Gidding
1
, Maarten H. Lequin
6
,
Benno Küsters
7
, Pieter Wesseling
1,8
, Marcel Nelen
2,3
, Jacklyn A. Biegel
9,10
, Alexander
Hoischen
2,3,11#
, Marjolijn C. Jongmans
1,5#
, Roland P. Kuiper

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