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Papers matching “structural variant calling” 8

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Abstract PO-45: Robust detection of translocations in lymphoma FFPE samples using Targeted Locus Capture-based sequencing
2020 Blood Cancer Discovery conference-abstract Medicine Lymphoma Diagnosis and Treatment

Amin Allahyar, Mark Pieterse, Joost F. Swennenhuis, Tjitske Los-de Vries, Roos J. Leguit, Ruud W. J. Meijers, +15 more

2

citations
Assessing clinical decision support system tools in precision oncology: piloting ring testing
2026 ESMO Real World Data and Digital Oncology article Medicine Artificial Intelligence in Healthcare and Education Open access

Vigdis Nygaard, S. Zhao, D. Tamborero, Richard Rosenquist, Albrecht Stenzinger, Paul Roepman, +15 more

0

citations
Correction: Rewriting the script: gene therapy and genome editing for von Willebrand Disease
2025 Frontiers in Genome Editing erratum Medicine Platelet Disorders and Treatments Open access

Tirsa T van Duijl, Karin Fijnvandraat, Jeroen C.J. Eikenboom, Frank W.G. Leebeek, Ruben Bierings, Jan Voorberg, +1 more

0

citations
Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease
2020 Movement Disorders Clinical Practice article Medicine Lysosomal Storage Disorders Research Open access

Jonas M. den Heijer, Jacobus Johannes van Hilten, Anneke J.A. Kievit, Vincenzo Bonifati, Geert Jan Groeneveld

9

citations
Prevalence of Inherited Predisposition Syndromes in Young Patients with Acute Myeloid Leukemia and Aberrant Karyotype
2020 Blood article Medicine Acute Myeloid Leukemia Research

Martin Kirschner, Benjamin Rolles, Martina Margrit Crysandt, Christoph Röllig, Friedrich Stölzel, Martin Bornhäuser, +12 more

4

citations
The EHA Research Roadmap: Normal Hematopoiesis
2021 HemaSphere article Medicine Hematopoietic Stem Cell Transplantation Open access

Thierry Jaffredo, Dominique A. Bonnet, Bruno Canque, Pierre Charbord, Charles Durand, Olivier Hermine, +2 more

1

citations
Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing
2020 Leukemia article Medicine Acute Myeloid Leukemia Research Open access

Wibowo Arindrarto, Daniel Borràs, Ruben A. L. de Groen, Redmar R. van den Berg, Irene J. Locher, Saskia A.M.E. van Diessen, +20 more

106

citations
Editorial: Prenatal diagnosis and follow-up of children with CNS abnormalities diagnosed in uterus
2025 Frontiers in Neurology editorial Medicine Fetal and Pediatric Neurological Disorders Open access

Barbara Scelsa, Jeanine M.M. van Klink, Chiara Doneda, Mariano Matteo Lanna

0

citations

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