Maria Pettersson

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 11

Top Topics

Mitochondrial Dna

Transcatheter Aortic Valve Implantation

Top Venues

American journal of medical genetics. Part A

Molecular genetics & genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Nadja Pekkola Pacheco, Maria Pettersson, Anna Lindstrand, Giedre Grigelioniene
Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63. American journal of medical genetics. Part A (2023)
Agneta Nordenskjold, Samara Arkani, Maria Pettersson, Johanna Winberg, Jia Cao, Magdalena Fossum, Magnus Anderberg, Gillian Barker, Gundela Holmdahl, Johanna Lundin
Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy. American journal of medical genetics. Part A (2022)
Jesper Eisfeldt, Fatemah Rezayee, Maria Pettersson, Kristina Lagerstedt, Helena Malmgren, Anna Falk, Giedre Grigelioniene, Anna Lindstrand
Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation. Human mutation 43 (11) (2022)
Morasha Plesser Duvdevani, Maria Pettersson, Jesper Eisfeldt, Ortal Avraham, Judith Dagan, Ayala Frumkin, James R. Lupski, Anna Lindstrand, Tamar Harel
Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome. American journal of medical genetics. Part A 182 (5) (2020)
Sara Dahl, Maria Pettersson, Jesper Eisfeldt, Anna Katharina Schröder, Ronny Wickström, Kristina Teär Fahnehjelm, Britt-Marie Anderlid, Anna Lindstrand
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia. PloS one 15 (2) (2020)
Maria Pettersson, Christopher M Grochowski, Josephine Wincent, Jesper Eisfeldt, Amy M Breman, Sau W Cheung, Ana C V Krepischi, Carla Rosenberg, James R. Lupski, Jesper Ottosson, Lovisa Lovmar, Jelena Gacic, Elisabeth S Lundberg, Daniel Nilsson, Cláudia M B Carvalho, Anna Lindstrand
Cytogenetically visible inversions are formed by multiple molecular mechanisms. Human mutation 41 (11) (2020)
Jesper Eisfeldt, Maria Pettersson, Francesco Vezzi, Josephine Wincent, Max Käller, Joel Gruselius, Daniel Nilsson, Elisabeth Syk Lundberg, Cláudia M B Carvalho, Anna Lindstrand
Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements. PLoS genetics 15 (2) (2019)
Karin Salehi Karlslätt, Maria Pettersson, Nina Jäntti, Przemyslaw Szafranski, Tomas Wester, Britt Husberg, Ulla Ullberg, Pawel Stankiewicz, Ann Nordgren, Johanna Lundin, Anna Lindstrand, Agneta Nordenskjöld
Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation. Molecular genetics & genomic medicine 7 (3) (2019)
Maria Pettersson, Raquel Vaz, Anna Hammarsjö, Jesper Eisfeldt, Cláudia M B Carvalho, Wolfgang Hofmeister, Emma Tham, Eva Horemuzova, Ulrika Voss, Gen Nishimura, Bo Klintberg, Ann Nordgren, Daniel Nilsson, Giedre Grigelioniene, Anna Lindstrand
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias. Human mutation 39 (10) (2018)
Lusine Nazaryan-Petersen, Jesper Eisfeldt, Maria Pettersson, Johanna Lundin, Daniel Nilsson, Josephine Wincent, Agne Lieden, Lovisa Lovmar, Jesper Ottosson, Jelena Gacic, Outimaija Mäkitie, Ann Nordgren, Francesco Vezzi, Valtteri Wirta, Max Käller, Tina Duelund Hjortshøj, Cathrine Jespersgaard, Rayan Houssari, Laura Pignata, Mads Bak, Niels Tommerup, Elisabeth Syk Lundberg, Zeynep Tümer, Anna Lindstrand
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization. PLoS genetics 14 (11) (2018)
Maria Pettersson, Birgitta Bergendal, Johanna Norderyd, Daniel Nilsson, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand
Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity. American journal of medical genetics. Part A 173 (5) (2017)