Resultats de la cerca - THAM, EMMA

Exome sequencing in 51 early onset non‐familial CRC cases per Thutkawkorapin, Jessada, Lindblom, Annika, Tham, Emma

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pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing per Thutkawkorapin, Jessada, Eisfeldt, Jesper, Tham, Emma, Nilsson, Daniel

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Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis per Wallander, Karin, Thonberg, Håkan, Nilsson, Daniel, Tham, Emma

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Correction to: Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis per Wallander, Karin, Thonberg, Håkan, Nilsson, Daniel, Tham, Emma

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Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients per TZORTZATOS, GERASIMOS, ARAVIDIS, CHRISTOS, LINDBLOM, ANNIKA, MINTS, MIRIAM, THAM, EMMA

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Familial cancer among consecutive uterine cancer patients in Sweden per Tzortzatos, Gerasimos, Wersäll, Ofra, Danielsson, Kristina Gemzell, Lindblom, Annika, Tham, Emma, Mints, Miriam

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Whole-body MRI within a surveillance program for carriers with clinically actionable germline TP53 variants - the Swedish constitutional TP53 study SWEP53 per Omran, Meis, Blomqvist, Lennart, Brandberg, Yvonne, Pal, Niklas, Kogner, Per, Ståhlbom, Anne Kinhult, Tham, Emma, Bajalica-Lagercrantz, Svetlana

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Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients per Wallander, Karin, Eisfeldt, Jesper, Lindblad, Mats, Nilsson, Daniel, Billiau, Kenny, Foroughi, Hassan, Nordenskjöld, Magnus, Liedén, Agne, Tham, Emma

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Patient-Specific Assays Based on Whole-Genome Sequencing Data to Measure Residual Disease in Children With Acute Lymphoblastic Leukemia: A Proof of Concept Study per Arthur, Cecilia, Rezayee, Fatemah, Mogensen, Nina, Saft, Leonie, Rosenquist, Richard, Nordenskjöld, Magnus, Harila-Saari, Arja, Tham, Emma, Barbany, Gisela

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Public support for healthcare-mediated disclosure of hereditary cancer risk information: Results from a population-based survey in Sweden per Andersson, Andreas, Hawranek, Carolina, Öfverholm, Anna, Ehrencrona, Hans, Grill, Kalle, Hajdarevic, Senada, Melin, Beatrice, Tham, Emma, Hellquist, Barbro Numan, Rosén, Anna

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The Expression of VEGF-A Is Down Regulated in Peripheral Blood Mononuclear Cells of Patients with Secondary Progressive Multiple Sclerosis per Iacobaeus, Ellen, Amoudruz, Petra, Ström, Mikael, Khademi, Mohsen, Brundin, Lou, Hillert, Jan, Kockum, Ingrid, Malmström, Vivianne, Olsson, Tomas, Tham, Emma, Piehl, Fredrik

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A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population per Lagerstedt-Robinson, Kristina, Baranowska Körberg, Izabella, Tsiaprazis, Stefanos, Björck, Erik, Tham, Emma, Poluha, Anna, Hellström Pigg, Maritta, Paulsson-Karlsson, Ylva, Nordenskjöld, Magnus, Johansson-Soller, Maria, Aravidis, Christos

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Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features per Tham, Emma, Lindstrand, Anna, Santani, Avni, Malmgren, Helena, Nesbitt, Addie, Dubbs, Holly A., Zackai, Elaine H., Parker, Michael J., Millan, Francisca, Rosenbaum, Kenneth, Wilson, Golder N., Nordgren, Ann

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A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families per Karimi, Masoud, von Salomé, Jenny, Aravidis, Christos, Silander, Gustav, Askmalm, Marie Stenmark, Henriksson, Isabelle, Gebre-Medhin, Samuel, Frödin, Jan-Erik, Björck, Erik, Lagerstedt-Robinson, Kristina, Lindblom, Annika, Tham, Emma

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Whole-Body MRI Surveillance—Baseline Findings in the Swedish Multicentre Hereditary TP53-Related Cancer Syndrome Study (SWEP53) per Omran, Meis, Tham, Emma, Brandberg, Yvonne, Ahlström, Håkan, Lundgren, Claudia, Paulsson-Karlsson, Ylva, Kuchinskaya, Ekaterina, Silander, Gustav, Rosén, Anna, Persson, Fredrik, Leonhardt, Henrik, Stenmark-Askmalm, Marie, Berg, Johanna, van Westen, Danielle, Bajalica-Lagercrantz, Svetlana, Blomqvist, Lennart

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The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability per Russell, Holly, Kedzierska, Katarzyna, Buchanan, Daniel D., Thomas, Rachael, Tham, Emma, Mints, Miriam, Keränen, Anne, Giles, Graham G., Southey, Melissa C., Milne, Roger L., Tomlinson, Ian, Church, David, Spurdle, Amanda B., O’Mara, Tracy A., Lewis, Annabelle

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Correction to: The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability per Russell, Holly, Kedzierska, Katarzyna, Buchanan, Daniel D., Thomas, Rachael, Tham, Emma, Mints, Miriam, Keränen, Anne, Giles, Graham G., Southey, Melissa C., Milne, Roger L., Tomlinson, Ian, Church, David, Spurdle, Amanda B., O’Mara, Tracy A., Lewis, Annabelle

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A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients per Wendt, Camilla, Muranen, Taru A., Mielikäinen, Lotta, Thutkawkorapin, Jessada, Blomqvist, Carl, Jiao, Xiang, Ehrencrona, Hans, Tham, Emma, Arver, Brita, Melin, Beatrice, Kuchinskaya, Ekaterina, Stenmark Askmalm, Marie, Paulsson-Karlsson, Ylva, Einbeigi, Zakaria, von Wachenfeldt Väppling, Anna, Kalso, Eija, Tasmuth, Tiina, Kallioniemi, Anne, Aittomäki, Kristiina, Nevanlinna, Heli, Borg, Åke, Lindblom, Annika

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From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intell... per Lindstrand, Anna, Eisfeldt, Jesper, Pettersson, Maria, Carvalho, Claudia M. B., Kvarnung, Malin, Grigelioniene, Giedre, Anderlid, Britt-Marie, Bjerin, Olof, Gustavsson, Peter, Hammarsjö, Anna, Georgii-Hemming, Patrik, Iwarsson, Erik, Johansson-Soller, Maria, Lagerstedt-Robinson, Kristina, Lieden, Agne, Magnusson, Måns, Martin, Marcel, Malmgren, Helena, Nordenskjöld, Magnus, Norling, Ameli, Sahlin, Ellika, Stranneheim, Henrik, Tham, Emma, Wincent, Josephine, Ygberg, Sofia, Wedell, Anna, Wirta, Valtteri, Nordgren, Ann, Lundin, Johanna, Nilsson, Daniel

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Defining the clinical phenotype of Saul-Wilson syndrome. per Ferreira, Carlos R., Zein, Wadih M., Huryn, Laryssa A., Merker, Andrea, Berger, Seth I., Wilson, William G., Tiller, George E., Wolfe, Lynne A., Merideth, Melissa, Carvalho, Daniel R., Duker, Angela L., Bratke, Heiko, Haug, Marte Gjøl, Rohena, Luis, Hove, Hanne B., Xia, Zhi-Jie, Ng, Bobby G., Freeze, Hudson H., Gabriel, Melissa, Russi, Alvaro H. Serrano, Brick, Lauren, Kozenko, Mariya, Earl, Dawn L., Tham, Emma, Nishimura, Gen, Phillips, John A., Gahl, William A., Hamid, Rizwan, Jackson, Andrew P., Grigelioniene, Giedre, Bober, Michael B.

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