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Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
Pettersson M, Vaz R, Hammarsjö A, Eisfeldt J, Carvalho Cmb, Hofmeister W, et al
Human mutation 2018;39(10):1456-1467

Flanking complex copy number variants in the same family formed through unequal crossing-over during meiosis
Pettersson M, Eisfeldt J, Syk Lundberg E, Lundin J, Lindstrand A
Mutation research 2018;812():1-4

Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility
Costantini A, Skarp S, Kämpe A, Mäkitie Re, Pettersson M, Männikkö M, et al
Frontiers in endocrinology 2018;9():380-

Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish
Hofmeister W, Pettersson M, Kurtoglu D, Armenio M, Eisfeldt J, Papadogiannakis N, et al
Human mutation 2018;39(4):495-505

Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways
Pettersson M, Viljakainen H, Loid P, Mustila T, Pekkinen M, Armenio M, et al
The Journal of clinical endocrinology and metabolism 2017;102(8):3029-3039

Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity
Pettersson M, Bergendal B, Norderyd J, Nilsson D, Anderlid Bm, Nordgren A, et al
American journal of medical genetics. Part A 2017;173(5):1396-1399

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism
Bramswig Nc, Lüdecke Hj, Pettersson M, Albrecht B, Bernier Ra, Cremer K, et al
Human genetics 2017;136(2):179-192

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
Hammarsjö A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha Km, et al
Scientific reports 2017;7(1):15585-

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation
Nilsson D, Pettersson M, Gustavsson P, Förster A, Hofmeister W, Wincent J, et al
Human mutation 2017;38(2):180-192

Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland
Viljakainen H, Andersson-assarsson Jc, Armenio M, Pekkinen M, Pettersson M, Valta H, et al
PloS one 2015;10(7):e0131883-

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid Bm, et al
Journal of medical genetics 2014;51(1):45-54

Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease
Laurell T, Nilsson D, Hofmeister W, Lindstrand A, Ahituv N, Vandermeer J, et al
Molecular genetics & genomic medicine 2014;2(5):402-11

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