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Author/Creator Wincent, Josephine

3. CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome. Issue 1 (22nd September 2015)

Authors:
Wincent, Josephine; Luthman, Aron; van Belzen, Martine; van der Lans, Christian; Albert, Johanna; Nordgren, Ann; Anderlid, Britt‐Marie
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 4:Issue 1(2016)
Page Start:
39
Record Type:
Journal Article
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4. Cytogenetically visible inversions are formed by multiple molecular mechanisms. Issue 11 (1st October 2020)

Authors:
Pettersson, Maria; Grochowski, Christopher M.; Wincent, Josephine; Eisfeldt, Jesper; Breman, Amy M.; Cheung, Sau W.; Krepischi, Ana C. V.; Rosenberg, Carla; Lupski, James R.; Ottosson, Jesper; Lovmar, Lovisa; Gacic, Jelena; Lundberg, Elisabeth S.; Nilsson, Daniel; Carvalho, Claudia M. B.; Lindstr...
Journal:
Human mutation
Issue:
Volume 41:Issue 11(2020)
Page Start:
1979
Record Type:
Journal Article
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5. Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. Issue 1 (7th November 2013)

Authors:
Lindstrand, Anna; Grigelioniene, Giedre; Nilsson, Daniel; Pettersson, Maria; Hofmeister, Wolfgang; Anderlid, Britt-Marie; Kant, Sarina G.; Ruivenkamp, Claudia A L; Gustavsson, Peter; Valta, Helena; Geiberger, Stefan; Topa, Alexandra; Lagerstedt-Robinson, Kristina; Taylan, Fulya; Wincent, Josephin...
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 1(2014)
Page Start:
45
Record Type:
Journal Article
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7. Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations. Issue 12 (20th September 2016)

Authors:
Fergelot, Patricia; Van Belzen, Martine; Van Gils, Julien; Afenjar, Alexandra; Armour, Christine M.; Arveiler, Benoit; Beets, Lex; Burglen, Lydie; Busa, Tiffany; Collet, Marie; Deforges, Julie; de Vries, Bert B. A.; Dominguez Garrido, Elena; Dorison, Nathalie; Dupont, Juliette; Francannet, Christ...
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 12(2016)
Page Start:
3069
Record Type:
Journal Article
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9. Whole‐Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation. Issue 2 (5th December 2016)

Authors:
Nilsson, Daniel; Pettersson, Maria; Gustavsson, Peter; Förster, Alisa; Hofmeister, Wolfgang; Wincent, Josephine; Zachariadis, Vasilios; Anderlid, Britt‐Marie; Nordgren, Ann; Mäkitie, Outi; Wirta, Valtteri; Käller, Max; Vezzi, Francesco; Lupski, James R; Nordenskjöld, Magnus; Syk Lundberg, Elisabe...
Journal:
Human mutation
Issue:
Volume 38:Issue 2(2017)
Page Start:
180
Record Type:
Journal Article
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