Pregnancy Planning and Genetic Testing: Exploring Advantages, and Challenges von Kristoffersson, Ulf, Johansson-Soller, Maria

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Psychiatric genetic counseling: A mapping exercise von Moldovan, Ramona, McGhee, Kevin A., Coviello, Domenico, Hamang, Anniken, Inglis, Angela, Ingvoldstad Malmgren, Charlotta, Johansson‐Soller, Maria, Laurino, Mercy, Meiser, Bettina, Murphy, Lauren, Paneque, Milena, Papsuev, Oleg, Pawlak, Joanna, Rovira Moreno, Eulàlia, Serra‐Juhe, Clara, Shkedi‐Rafid, Shiri, Laing, Nakita, Voelckel, Marie‐Antoinette, Watson, Melanie, Austin, Jehannine C.

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Confirmation of the high frequency of the TMPRSS2/ERG fusion gene in prostate cancer von Soller, Maria Johansson, Isaksson, Margareth, Elfving, Peter, Soller, Wolfgang, Lundgren, Rolf, Panagopoulos, Ioannis

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Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability von Lindstrand, Anna, Ek, Marlene, Kvarnung, Malin, Anderlid, Britt-Marie, Björck, Erik, Carlsten, Jonas, Eisfeldt, Jesper, Grigelioniene, Giedre, Gustavsson, Peter, Hammarsjö, Anna, Helgadóttir, Hafdís T., Hellström-Pigg, Maritta, Kuchinskaya, Ekaterina, Lagerstedt-Robinson, Kristina, Levin, Lars-Åke, Lieden, Agne, Lindelöf, Hillevi, Malmgren, Helena, Nilsson, Daniel, Svensson, Eva, Paucar, Martin, Sahlin, Ellika, Tesi, Bianca, Tham, Emma, Winberg, Johanna, Winerdal, Max, Wincent, Josephine, Johansson Soller, Maria, Pettersson, Maria, Nordgren, Ann

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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients von Stranneheim, Henrik, Lagerstedt-Robinson, Kristina, Magnusson, Mans, Kvarnung, Malin, Nilsson, Daniel, Lesko, Nicole, Engvall, Martin, Anderlid, Britt-Marie, Arnell, Henrik, Johansson, Carolina Backman, Barbaro, Michela, Bjorck, Erik, Bruhn, Helene, Eisfeldt, Jesper, Freyer, Christoph, Grigelioniene, Giedre, Gustavsson, Peter, Hammarsjo, Anna, Hellstrom-Pigg, Maritta, Iwarsson, Erik, Jemt, Anders, Laaksonen, Mikael, Enoksson, Sara Lind, Malmgren, Helena, Naess, Karin, Nordenskjold, Magnus, Oscarson, Mikael, Pettersson, Maria, Rasi, Chiara, Rosenbaum, Adam, Sahlin, Ellika, Sardh, Eliane, Stodberg, Tommy, Tesi, Bianca, Tham, Emma, Thonberg, Hakan, Tohonen, Virpi, von Dobeln, Ulrika, Vassiliou, Daphne, Vonlanthen, Sofie, Wikstrom, Ann-Charlotte, Wincent, Josephine, Winqvist, Ola, Wredenberg, Anna, Ygberg, Sofia, Zetterstrom, Rolf H., Marits, Per, Soller, Maria Johansson, Nordgren, Ann, Wirta, Valtteri, Lindstrand, Anna, Wedell, Anna

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Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross‐sectional study with healthcare professionals von Lewis, Celine, Hammond, Jennifer, Klapwijk, Jasmijn E., Harding, Eleanor, Lou, Stina, Vogel, Ida, Szepe, Emma J., Hui, Lisa, Ingvoldstad‐Malmgren, Charlotta, Soller, Maria J., Ormond, Kelly E., Choolani, Mahesh, Hill, Melissa, Riedijk, Sam

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DLG4-related synaptopathy: a new rare brain disorder von Rodríguez-Palmero, Agustí, Boerrigter, Melissa Maria, Gómez-Andrés, David, Aldinger, Kimberly A., Marcos-Alcalde, Íñigo, Popp, Bernt, Everman, David B., Lovgren, Alysia Kern, Arpin, Stephanie, Bahrambeigi, Vahid, Beunders, Gea, Bisgaard, Anne-Marie, Bjerregaard, V. A., Bruel, Ange-Line, Challman, Thomas D., Cogné, Benjamin, Coubes, Christine, de Man, Stella A., Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Elmslie, Frances, Feuk, Lars, García-Miñaúr, Sixto, Gertler, Tracy, Giorgio, Elisa, Gruchy, Nicolas, Haack, Tobias B., Haldeman-Englert, Chad R., Haukanes, Bjørn Ivar, Hoyer, Juliane, Hurst, Anna C. E., Isidor, Bertrand, Soller, Maria Johansson, Kushary, Sulagna, Kvarnung, Malin, Landau, Yuval E., Leppig, Kathleen A., Lindstrand, Anna, Kleinendorst, Lotte, MacKenzie, Alex, Mandrile, Giorgia, Mendelsohn, Bryce A., Moghadasi, Setareh, Morton, Jenny E., Moutton, Sebastien, Müller, Amelie J., O’Leary, Melanie, Pacio-Míguez, Marta, Palomares-Bralo, Maria, Parikh, Sumit, Pfundt, Rolph, Pode-Shakked, Ben, Rauch, Anita, Repnikova, Elena, Revah-Politi, Anya, Ross, Meredith J., Ruivenkamp, Claudia A. L., Sarrazin, Elisabeth, Savatt, Juliann M., Schlüter, Agatha, Schönewolf-Greulich, Bitten, Shad, Zohra, Shaw-Smith, Charles, Shieh, Joseph T., Shohat, Motti, Spranger, Stephanie, Thiese, Heidi, Mau-Them, Frederic Tran, van Bon, Bregje, van de Burgt, Ineke, van de Laar, Ingrid M. B. H., van Drie, Esmée, van Haelst, Mieke M., van Ravenswaaij-Arts, Conny M., Verdura, Edgard, Vitobello, Antonio, Waldmüller, Stephan, Whiting, Sharon, Zweier, Christiane, Prada, Carlos E., de Vries, Bert B. A., Dobyns, William B., Reiter, Simone F., Gómez-Puertas, Paulino, Pujol, Aurora, Tümer, Zeynep

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The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders von Runheim, Hannes, Pettersson, Maria, Hammarsjö, Anna, Nordgren, Ann, Henriksson, Martin, Lindstrand, Anna, Levin, Lars-Åke, Soller, Maria Johansson

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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... von 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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A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population von 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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Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening von Dondorp, Wybo, de Wert, Guido, Bombard, Yvonne, Bianchi, Diana W, Bergmann, Carsten, Borry, Pascal, Chitty, Lyn S, Fellmann, Florence, Forzano, Francesca, Hall, Alison, Henneman, Lidewij, Howard, Heidi C, Lucassen, Anneke, Ormond, Kelly, Peterlin, Borut, Radojkovic, Dragica, Rogowski, Wolf, Soller, Maria, Tibben, Aad, Tranebjærg, Lisbeth, van El, Carla G, Cornel, Martina C

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Factors that impact on women's decision‐making around prenatal genomic tests: An international discrete choice survey von Buchanan, James, Hill, Melissa, Vass, Caroline M., Hammond, Jennifer, Riedijk, Sam, Klapwijk, Jasmijn E., Harding, Eleanor, Lou, Stina, Vogel, Ida, Hui, Lisa, Ingvoldstad‐Malmgren, Charlotta, Soller, Maria Johansson, Ormond, Kelly E., Choolani, Mahesh, Zheng, Qian, Chitty, Lyn S., Lewis, Celine

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Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model von Tegelberg, Saara, Tomašić, Nikica, Kallijärvi, Jukka, Purhonen, Janne, Elmér, Eskil, Lindberg, Eva, Nord, David Gisselsson, Soller, Maria, Lesko, Nicole, Wedell, Anna, Bruhn, Helene, Freyer, Christoph, Stranneheim, Henrik, Wibom, Rolf, Nennesmo, Inger, Wredenberg, Anna, Eklund, Erik A, Fellman, Vineta

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Assessing women's preferences towards tests that may reveal uncertain results from prenatal genomic testing: Development of attributes for a discrete choice experiment, using a mix... von Hammond, Jennifer, Klapwijk, Jasmijn E, Riedijk, Sam, Lou, Stina, Ormond, Kelly E, Vogel, Ida, Hui, Lisa, Sziepe, Emma-Jane, Buchanan, James, Ingvoldstad-Malmgren, Charlotta, Soller, Maria Johansson, Harding, Eleanor, Hill, Melissa, Lewis, Celine

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A stroke gene panel for whole-exome sequencing von Ilinca, Andreea, Samuelsson, Sofie, Piccinelli, Paul, Soller, Maria, Kristoffersson, Ulf, Lindgren, Arne G.

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Relation between smoking history and gene expression profiles in lung adenocarcinomas von Staaf, Johan, Jönsson, Göran, Jönsson, Mats, Karlsson, Anna, Isaksson, Sofi, Salomonsson, Annette, Pettersson, Helen M, Soller, Maria, Ewers, Sven-Börje, Johansson, Leif, Jönsson, Per, Planck, Maria

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Midline carcinoma with t(15;19) and BRD4-NUT fusion oncogene in a 30-year-old female with response to docetaxel and radiotherapy von Engleson, Jens, Soller, Maria, Panagopoulos, Ioannis, Dahlén, Anna, Dictor, Michael, Jerkeman, Mats

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Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental... von Davidsson, Josef, Collin, Anna, Björkhem, Gudrun, Soller, Maria

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The expression of pluripotency marker Oct 3/4 in prostate cancer and benign prostate hyperplasia von Monsef, Nastaran, Soller, Maria, Isaksson, Margareth, Abrahamsson, Per Anders, Panagopoulos, Ioannis

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HIF1α isoforms in benign and malignant prostate tissue and their correlation to neuroendocrine differentiation von Monsef, Nastaran, Soller, Maria, Panagopoulos, Ioannis, Abrahamsson, Per Anders

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