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

Mariangela Sabatella, Tuomo Mantere, Esmé Waanders, Kornelia Neveling, Arjen R Mensenkamp, Freerk van Dijk, Jayne Y Hehir-Kwa, Ronnie Derks, Michael Kwint, Luke O'Gorman, Madalena Tropa Martins, Corrie Em Gidding, Maarten H Lequin, Benno Küsters, Pieter Wesseling, Marcel Nelen, Jacklyn A Biegel, Alexander Hoischen, Marjolijn C Jongmans, Roland P Kuiper

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