Paul Piccinelli

Division of Clinical Genetics

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2024
Mark MDM2 amplification in rod-shaped chromosomes provides clues to early stages of circularized gene amplification in liposarcoma
Sydow, Saskia ^LU ; Piccinelli, Paul ^LU ; Mitra, Shamik ^LU ; Tsagkozis, Panagiotis ; Hesla, Asle ; B. R. De Mattos, Camila ^LU ; Köster, Jan ^LU ; Magnusson, Linda ^LU ; Nilsson, Jenny ^LU and Ameur, Adam , et al. (2024) In Communications Biology 7(1).
- Contribution to journal › Article
Mark Transcriptomic profiles of myxofibrosarcoma and undifferentiated pleomorphic sarcoma correlate with clinical and genomic features
Mitra, Shamik ^LU ; Farswan, Akanksha ; Piccinelli, Paul ^LU ; Sydow, Saskia ^LU ; Hesla, Asle ; Tsagkozis, Panagiotis ; Vult von Steyern, Fredrik ^LU ; Almqvist, Martin ; Eriksson, Mikael ^LU and Magnusson, Linda ^LU , et al. (2024) In Journal of Pathology 264(3). p.293-304
- Contribution to journal › Article
Mark Structural Variants in the SMC1A Gene Associated With Near-Haploidy in Undifferentiated Pleomorphic Sarcomas
Ibstedt, Sebastian ; Piccinelli, Paul ^LU ; Sydow, Saskia ^LU ; Köster, Jan ^LU and Mertens, Fredrik ^LU (2024) In Genes Chromosomes and Cancer 63(8).
- Contribution to journal › Article
2022
Mark The diagnostic utility of DNA copy number analysis of core needle biopsies from soft tissue and bone tumors
Köster, Jan ^LU ; Piccinelli, Paul ^LU ; Arvidsson, Linda ; Vult von Steyern, Fredrik ^LU ; Bedeschi Rego De Mattos, Camila ^LU ; Almquist, Martin ^LU ; Nilsson, Jenny ^LU ; Magnusson, Linda ^LU and Mertens, Fredrik ^LU (2022) In Laboratory Investigation 102(8). p.838-845
- Contribution to journal › Article
Mark Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation
Elander, Johanna ^LU ; Ullmark, Tove ^LU ; Ehrencrona, Hans ^LU ; Jonson, Tord ^LU ; Piccinelli, Paul ^LU ; Samuelsson, Sofie ^LU ; Löwgren, Karolina ^LU ; Falkenius-Schmidt, Karolina ^LU ; Ehinger, Johannes ^LU and Stenfeldt, Karin ^LU , et al. (2022) In International Journal of Pediatric Otorhinolaryngology 159.
- Contribution to journal › Article
Mark Amplification of ERBB2 (HER2) in embryonal rhabdomyosarcoma : A potential treatment target in rare cases?
Mitra, Shamik ^LU ; Sydow, Saskia ^LU ; Magnusson, Linda ^LU ; Piccinelli, Paul ^LU ; Törnudd, Lisa ; Øra, Ingrid ^LU ; Ljungman, Gustaf ; Sandgren, Johanna ; Gisselsson, David ^LU and Mertens, Fredrik ^LU (2022) In Genes, Chromosomes and Cancer 61(1). p.5-9
- Contribution to journal › Article
2021
Mark Genomic and transcriptomic characterization of desmoplastic small round cell tumors
Sydow, Saskia ^LU ; Versleijen-Jonkers, Yvonne M.H. ; Hansson, Magnus ; van Erp, Anke E.M. ; Hillebrandt-Roeffen, Melissa H.S. ; van der Graaf, Winette T.A. ; Piccinelli, Paul ^LU ; Rissler, Pehr ^LU ; Flucke, Uta E. and Mertens, Fredrik ^LU (2021) In Genes Chromosomes and Cancer 60(9). p.595-603
- Contribution to journal › Article
2020
Mark Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke
Ilinca, Andreea ^LU ; Martinez-Majander, Nicolas ; Samuelsson, Sofie ^LU ; Piccinelli, Paul ^LU ; Truvé, Katarina ; Cole, John ; Kittner, Steven ; Soller, Maria ^LU ; Kristoffersson, Ulf ^LU and Tatlisumak, Turgut , et al. (2020) In Stroke 51(4). p.1056-1063
- Contribution to journal › Article
2019
Mark A stroke gene panel for whole-exome sequencing
Ilinca, Andreea ^LU ; Samuelsson, Sofie ^LU ; Piccinelli, Paul ^LU ; Soller, Maria ^LU ; Kristoffersson, Ulf ^LU and Lindgren, Arne G. ^LU (2019) In European Journal of Human Genetics 27(2). p.317-324
- Contribution to journal › Article