Margareta Nordling

Publikationer

2024

I. Spier, X. Yin, M. Richardson, M. Pineda, A. Laner, D. Ritter, J. Boyle, P. Mur, T. V. O. Hansen, X. Shi, K. Mahmood, J. -P Plazzer, E. Ognedal, Margareta Nordling, S. M. Farrington, G. Yamamoto, S. Baert-Desurmont, A. Martins, E. Borras, C. Tops, E. Webb, V. Beshay, M. Genuardi, T. Pesaran, G. Capellá, S. V. Tavtigian, A. Latchford, I. M. Frayling, S. E. Plon, M. Greenblatt, F. A. Macrae, S. Aretz (2024) Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel Genetics in Medicine, Vol. 26, Artikel 100992 (Artikel i tidskrift) https://dx.doi.org/10.1016/j.gim.2023.100992

Jesper Eisfeldt, Adam Ameur, Felix Lenner, Esmee Ten Berk de Boer, Marlene Ek, Josephine Wincent, Raquel Vaz, Jesper Ottosson, Tord Jonson, Sofie Ivarsson, Sofia Thunstroem, Alexandra Topa, Simon Stenberg, Anna Rohlin, Anna Sandestig, Margareta Nordling, Pia Palmebäck, Magnus Burstedt, Frida Nordin, Eva-Lena Stattin, Maria Sobol, Panagiotis Baliakas, Marie-Louise Bondeson, Ida Hoijer, Kristine Bilgrav Saether, Lovisa Lovmar, Hans Ehrencrona, Malin Melin, Lars Feuk, Anna Lindstrand (2024) A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities Genome Research, Vol. 34, s. 1774-1784 (Artikel i tidskrift) https://dx.doi.org/10.1101/gr.279510.124

Xiaoyu Yin, Marcy Richardson, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Valeria Vasta, Thomas v. O. Hansen, Marta Pineda, Deborah Ritter, Johan de Dunnen, Emadeldin Hassanin, Wencong Lyman Lin, Ester Borras, Karl Krahn, Margareta Nordling, Alexandra Martins, Khalid Mahmood, Emily Nadeau, Victoria Beshay, Carli Tops, Maurizio Genuardi, Tina Pesaran, Ian M. Frayling, Gabriel Capella, Andrew Latchford, Sean V Tavtigian, Carlo Maj, Sharon E. Plon, Marc S. Greenblatt, Finlay A. Macrae, Isabel Spier, Stefan Aretz (2024) Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS American Journal of Human Genetics, Vol. 111 (Artikel i tidskrift) https://dx.doi.org/10.1016/j.ajhg.2024.09.002

Bianca Tesi, Kristina Lagerstedt Robinson, Frida Abel, Teresita Diaz de Stahl, Sara Orrsjoe, Anna Poluha, Maria Hellberg, Sandra Wessman, Sofie Samuelsson, Tony Frisk, Hartmut Vogt, Karin Henning, Magnus Sabel, Torben Ek, Niklas Pal, Per Nyman, Geraldine Giraud, Joakim Wille, Cornelis Jan Pronk, Ulrika Noren-Nystroem, Magnus Borssen, Maria Fili, Gustav Stalhammar, Nikolas Herold, Giorgio Tettamanti, Carolina Maya-Gonzalez, Linda Arvidsson, Anna Rosen, Katja Ekholm, Ekaterina Kuchinskaya, Anna-Lotta Hallbeck, Margareta Nordling, Pia Palmebäck, Per Kogner, Gunilla Kanter Smoler, Paeivi Laehteenmaeki, Susanne Fransso, Tommy Martinsson, Alia Shamik, Fredrik Mertens, Richard Rosenquist, Valtteri Wirta, Emma Tham, Pernilla Grillner, Johanna Sandgren, Gustaf Ljungman, David Gisselsson, Fulya Taylan, Ann Nordgren (2024) Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors - a nationwide, prospective Swedish study The Lancet Regional Health: Europe, Vol. 39, Artikel 100881 (Artikel i tidskrift) https://dx.doi.org/10.1016/j.lanepe.2024.100881

2022

Sara Svensson, Theofanis Zagoras, Christos Aravidis, Marie Stenmark Askmalm, Erik Björck, Åke Borg, Ekaterina Kuchinskaya, Mef Nilbert, Margareta Nordling, Anna Rohlin, Gustav Silander, Kristina Lagerstedt-Robinson, Samuel Gebre-Medhin (2022) Merged testing for colorectal cancer syndromes and re-evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort Genes, Chromosomes and Cancer, Vol. 61, s. 585-591 (Artikel i tidskrift) https://dx.doi.org/10.1002/gcc.23049