Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women

por Sahlin, Ellika, Nordenskjöld, Magnus, Gustavsson, Peter, Wincent, Josephine, Georgsson, Susanne, Iwarsson, Erik
Publicado 2016

Knowledge and Attitudes Regarding Non-Invasive Prenatal Testing (NIPT) and Preferences for Risk Information among High School Students in Sweden

por Georgsson, Susanne, Sahlin, Ellika, Iwarsson, Moa, Nordenskjöld, Magnus, Gustavsson, Peter, Iwarsson, Erik
Publicado 2016

Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19

por Paucar, Martin, Bergendal, Åsa, Gustavsson, Peter, Nordenskjöld, Magnus, Laffita-Mesa, José, Savitcheva, Irina, Svenningsson, Per
Publicado 2018

Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations

por Winberg, Johanna, Gustavsson, Peter, Sahlin, Ellika, Larsson, Magnus, Ehrén, Henrik, Fossum, Magdalena, Wester, Tomas, Nordgren, Ann, Nordenskjöld, Agneta
Publicado 2019

Folate metabolite profiling of different cell types and embryos suggests variation in folate one-carbon metabolism, including developmental changes in human embryonic brain

por Leung, Kit-Yi, De Castro, Sandra C. P., Cabreiro, Filipe, Gustavsson, Peter, Copp, Andrew J., Greene, Nicholas D. E.
Publicado 2013

Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth

por Sahlin, Ellika, Gréen, Anna, Gustavsson, Peter, Liedén, Agne, Nordenskjöld, Magnus, Papadogiannakis, Nikos, Pettersson, Karin, Nilsson, Daniel, Jonasson, Jon, Iwarsson, Erik
Publicado 2019

Lamin B1 Polymorphism Influences Morphology of the Nuclear Envelope, Cell Cycle Progression, and Risk of Neural Tube Defects in Mice

por De Castro, Sandra C. P., Malhas, Ashraf, Leung, Kit-Yi, Gustavsson, Peter, Vaux, David J., Copp, Andrew J., Greene, Nicholas D. E.
Publicado 2012

Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association

por Winberg, Johanna, Gustavsson, Peter, Papadogiannakis, Nikos, Sahlin, Ellika, Bradley, Frideborg, Nordenskjöld, Edvard, Svensson, Pär-Johan, Annerén, Göran, Iwarsson, Erik, Nordgren, Ann, Nordenskjöld, Agneta
Publicado 2014

Is LMNB1 a Susceptibility Gene for Neural Tube Defects in Humans?

por Robinson, Alexis, Partridge, Darren, Malhas, Ashraf, De Castro, Sandra CP, Gustavsson, Peter, Thompson, Dominic N, Vaux, David J, Copp, Andrew J, Stanier, Philip, Bassuk, Alexander G, Greene, Nicholas DE
Publicado 2013

Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice

por De Castro, Sandra C P, Gustavsson, Peter, Marshall, Abigail R, Gordon, William M, Galea, Gabriel, Nikolopoulou, Evanthia, Savery, Dawn, Rolo, Ana, Stanier, Philip, Andersen, Bogi, Copp, Andrew J, Greene, Nicholas D E
Publicado 2018

Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans

por Narisawa, Ayumi, Komatsuzaki, Shoko, Kikuchi, Atsuo, Niihori, Tetsuya, Aoki, Yoko, Fujiwara, Kazuko, Tanemura, Mitsuyo, Hata, Akira, Suzuki, Yoichi, Relton, Caroline L., Grinham, James, Leung, Kit-Yi, Partridge, Darren, Robinson, Alexis, Stone, Victoria, Gustavsson, Peter, Stanier, Philip, Copp, Andrew J., Greene, Nicholas D.E., Tominaga, Teiji, Matsubara, Yoichi, Kure, Shigeo
Publicado 2012

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

por Buena-Atienza, Elena, Rüther, Klaus, Baumann, Britta, Bergholz, Richard, Birch, David, De Baere, Elfride, Dollfus, Helene, Greally, Marie T., Gustavsson, Peter, Hamel, Christian P., Heckenlively, John R., Leroy, Bart P., Plomp, Astrid S., Pott, Jan Willem R., Rose, Katherine, Rosenberg, Thomas, Stark, Zornitza, Verheij, Joke B. G. M., Weleber, Richard, Zobor, Ditta, Weisschuh, Nicole, Kohl, Susanne, Wissinger, Bernd
Publicado 2016

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intell...

por 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
Publicado 2019

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

por Stranneheim, Henrik, Lagerstedt-Robinson, Kristina, Magnusson, Måns, Kvarnung, Malin, Nilsson, Daniel, Lesko, Nicole, Engvall, Martin, Anderlid, Britt-Marie, Arnell, Henrik, Johansson, Carolina Backman, Barbaro, Michela, Björck, Erik, Bruhn, Helene, Eisfeldt, Jesper, Freyer, Christoph, Grigelioniene, Giedre, Gustavsson, Peter, Hammarsjö, Anna, Hellström-Pigg, Maritta, Iwarsson, Erik, Jemt, Anders, Laaksonen, Mikael, Enoksson, Sara Lind, Malmgren, Helena, Naess, Karin, Nordenskjöld, Magnus, Oscarson, Mikael, Pettersson, Maria, Rasi, Chiara, Rosenbaum, Adam, Sahlin, Ellika, Sardh, Eliane, Stödberg, Tommy, Tesi, Bianca, Tham, Emma, Thonberg, Håkan, Töhönen, Virpi, von Döbeln, Ulrika, Vassiliou, Daphne, Vonlanthen, Sofie, Wikström, Ann-Charlotte, Wincent, Josephine, Winqvist, Ola, Wredenberg, Anna, Ygberg, Sofia, Zetterström, Rolf H., Marits, Per, Soller, Maria Johansson, Nordgren, Ann, Wirta, Valtteri, Lindstrand, Anna, Wedell, Anna
Publicado 2021