̽»¨¾«Ñ¡

Josephine Wincent

Affiliated to Research
Visiting address: ̽»¨¾«Ñ¡, BioClinicum J10:20, Visionsgatan 4, 17164 Solna
Postal address: K1 Molekylär medicin och kirurgi, K1 MMK Sällsynta diagnoser, 171 76 Stockholm
Part of:

Selected publications

  • Preprint: MEDRXIV. 2023
    Eisfeldt J; Ameur A; Lenner F; de Boer ETB; Ek M; Wincent J; Vaz R; Ottosson J; Jonson T; Ivarsson S; Thunström S; Topa A; Stenberg S; Rohlin A; Sandestig A; Nordling M; Palmebäck P; Burstedt M; Nordin F; Stattin E-L; Sobol M; Baliakas P; Bondeson M-L; Höijer I; Saether KB; Lovmar L; Ehrencrona H; Melin M; Feuk L; Lindstrand A
  • Article: JAMA OTOLARYNGOLOGY - HEAD AND NECK SURGERY. 2023;149(5):390-396
    Bonnard A; Berglin CE; Wincent J; Eriksson PO; Westman E; Feychting M; Mogensen H
  • Journal article: PATHOLOGY. 2023;55:s19-s20
    Lindstrand A; Ek M; Kvarnung M; Anderlid B-M; Björck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjö A; Helgadottir HT; Hellström-Pigg M; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-Å; Lieden A; Lindelöf H; Malmgren H; Nilsson D; Svensson E; Paucar M; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
  • Article: BIOMEDICINES. 2022;10(12):3171
    Vaz R; Wincent J; Elfissi N; Rosengren Forsblad K; Pettersson M; Naess K; Wedell A; Wredenberg A; Lindstrand A; Ygberg S
  • Article: GENETICS IN MEDICINE. 2022;24(11):2296-2307
    Lindstrand A; Ek M; Kvarnung M; Anderlid B-M; Bjoerck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjoe A; Helgadottir HT; Hellstroem-Pigg M; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-A; Lieden A; Lindeloef H; Malmgren H; Nilsson D; Svensson E; Paucar M; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
  • Article: OPHTHALMIC GENETICS. 2022;43(2):172-183
    Fahnehjelm C; Kopp ED; Wincent J; Guven E; Nilsson M; Olsson M; Fahnehjelm KT
  • Article: GENOME MEDICINE. 2021;13(1):40
    Stranneheim H; Lagerstedt-Robinson K; Magnusson M; Kvarnung M; Nilsson D; Lesko N; Engvall M; Anderlid B-M; Arnell H; Johansson CB; Barbaro M; Bjorck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjo A; Hellstrom-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjold M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stodberg T; Tesi B; Tham E; Thonberg H; Tohonen V; von Dobeln U; Vassiliou D; Vonlanthen S; Wikstrom A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterstrom RH; Marits P; Soller MJ; Nordgren A; Wirta V; Lindstrand A; Wedell A
  • Article: HUMAN MUTATION. 2020;41(11):1979-1998
    Pettersson M; Grochowski CM; Wincent J; Eisfeldt J; Breman AM; Cheung SW; Krepischi ACV; Rosenberg C; Lupski JR; Ottosson J; Lovmar L; Gacic J; Lundberg ES; Nilsson D; Carvalho CMB; Lindstrand A
  • Article: TRANSLATIONAL PSYCHIATRY. 2020;10(1):312
    Becker M; Mastropasqua F; Reising JP; Maier S; Ho M-L; Rabkina I; Li D; Neufeld J; Ballenberger L; Myers L; Moritz V; Kele M; Wincent J; Willfors C; Sitnikov R; Herlenius E; Anderlid B-M; Falk A; Bolte S; Tammimies K
  • Preprint: BIORXIV. 2019
    Becker M; Mastropasqua F; Reising JP; Maier S; Ho M-L; Rabkina I; Li D; Neufeld J; Ballenberger L; Myers L; Moritz V; Kele M; Wincent J; Willfors C; Sitnikov R; Herlenius E; Anderlid B-M; Falk A; Bölte S; Tammimies K
  • Article: GENOME MEDICINE. 2019;11(1):68
    Lindstrand A; Eisfeldt J; Pettersson M; Carvalho CMB; Kvarnung M; Grigelioniene G; Anderlid B-M; Bjerin O; Gustavsson P; Hammarsjo A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjold M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D
  • Article: PLOS GENETICS. 2019;15(2):e1007858
    Eisfeldt J; Pettersson M; Vezzi F; Wincent J; Kaeller M; Gruselius J; Nilsson D; Lundberg ES; Carvalho CMB; Lindstrand A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1137-1138
    Pettersson M; Grochowski CM; Eisfeldt J; Wincent J; Lupski JR; Ottosson J; Lovmar L; Gacic J; Lundberg ES; Nilsson D; Carvalho CMB; Lindstrand A
  • Article: PLOS GENETICS. 2018;14(11):e1007780
    Nazaryan-Petersen L; Eisfeldt J; Pettersson M; Lundin J; Nilsson D; Wincent J; Lieden A; Lovmar L; Ottosson J; Gacic J; Makitie O; Nordgren A; Vezzi F; Wirta V; Kaller M; Hjortshoj TD; Jespersgaard C; Houssari R; Pignata L; Bak M; Tommerup N; Lundberg ES; Tumer Z; Lindstrand A
  • Article: HUMAN MUTATION. 2017;38(2):180-192
    Nilsson D; Pettersson M; Gustavsson P; Forster A; Hofmeister W; Wincent J; Zachariadis V; Anderlid B-M; Nordgren A; Makitie O; Wirta V; Kaller M; Vezzi F; Lupski JR; Nordenskjold M; Lundberg ES; Carvalho CMB; Lindstrand A
  • Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2016;170(12):3069-3082
    Fergelot P; Van Belzen M; Van Gils J; Afenjar A; Armour CM; Arveiler B; Beets L; Burglen L; Busa T; Collet M; Deforges J; de Vries BBA; Dominguez Garrido E; Dorison N; Dupont J; Francannet C; Garcia-Minaur S; Gabau Vila E; Gebre-Medhin S; Gener Querol B; Genevieve D; Gerard M; Gervasini CG; Goldenberg A; Josifova D; Lachlan K; Maas S; Maranda B; Moilanen JS; Nordgren A; Parent P; Rankin J; Reardon W; Rio M; Roume J; Shaw A; Smigiel R; Sojo A; Solomon B; Stembalska A; Stumpel C; Suarez F; Terhal P; Thomas S; Touraine R; Verloes A; Vincent-Delorme C; Wincent J; Peters DJM; Bartsch O; Larizza L; Lacombe D; Hennekam RC
  • Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2016;4(1):39-45
    Wincent J; Luthman A; van Belzen M; van der Lans C; Albert J; Nordgren A; Anderlid B-M
  • Article: PLOS ONE. 2016;11(5):e0156088
    Sahlin E; Nordenskjold M; Gustavsson P; Wincent J; Georgsson S; Iwarsson E
  • Article: ACTA PAEDIATRICA, INTERNATIONAL JOURNAL OF PAEDIATRICS. 2015;104(6):610-618
    Eriksson MA; Lieden A; Westerlund J; Bremer A; Wincent J; Sahlin E; Gillberg C; Fernell E; Anderlid B-M
  • Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2015;167(3):512-523
    Wincent J; Kolbjer S; Martin D; Luthman A; Amark P; Dahlin M; Anderlid B-M
  • Show more

Articles

  • Article: MOLECULAR SYNDROMOLOGY. 2010;1(5):246-254
    Wincent J; Bruno DL; van Bon BWM; Bremer A; Stewart H; Bongers EMHF; Ockeloen CW; Willemsen MH; Keays DDA; Baird G; Newbury DF; Kleefstra T; Marcelis C; Kini U; Stark Z; Savarirayan R; Sheffield LJ; Zuffardi O; Slater HR; de Vries BB; Knight SJL; Anderlid B-M; Schoumans J

All other publications

  • Published conference paper: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:429
    Missense variant in PDK1 associated with severe developmental delay and epilepsy
    Vaz R; Wincent J; Elfissi N; Forsblad K; Pettersson M; Naess K; Wedell A; Wreden-Berg A; Lindstrand A; Ygberg S
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:451
    Lindstrand A; Ek M; Kvarnung M; Anderlid BM; Bjorck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjo A; Helgadottir H; Pigg MH; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-A; Lieden A; Lindelof H; Malmgren H; Nilsson D; Svensson E; Arce MP; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):52-53
    Lindstrand A; Stranneheim H; Lagerstedt-Robinson K; Kvarnung M; Lesko N; Nilsson D; Anderlid B; Arnell H; Johansson CB; Barbaro M; Bjorck E; Bruhn H; Eisfeldt J; Engvall M; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjo A; Hellstrom-Pigg M; Jemt A; Laaksonen M; Enoksson SL; Magnusson M; Malmgren H; Naess K; Nordenskjold M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Stodberg T; Tesi B; Tham E; Thonberg H; von Dobeln U; Vonlanthen S; Wikstrom A; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterstrom RH; Marits P; Johansson-Soller M; Soller MJ; Nordgren A; Wirta V; Wedell A
  • Conference publication: MOLECULAR CYTOGENETICS. 2019;12
    Pettersson M; Grochowski CM; Wincent J; Eisfeldt J; Cheung SW; Victorino Krepischi AC; Rosenberg C; Lupski JR; Ottosson J; Lovmar L; Gacic J; Lundberg ES; Nilsson D; Carvalho CMB; Lindstrand A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:60
    Nazaryan-Petersen L; Eisfeldt J; Lundin J; Pettersson M; Nilsson D; Wincent J; Lieden A; Vezzi F; Wirta V; Kaller M; Duelund T; Houssari R; Pignata L; Bak M; Tommerup N; Lundberg ES; Tumer Z; Lindstrand A
  • Conference publication: MOLECULAR CYTOGENETICS. 2017;10
    Eisfeldt J; Nazaryan-Petersen L; Lundin JL; Pettersson M; Nilsson D; Wincent J; Lieden A; Vezzi F; Wirta V; Kaller M; Duelund T; Houssari R; Pignata L; Bak M; Tommerup N; Lundberg ES; Tumer Z; Lindstrand A
  • Conference publication: EPILEPSIA. 2014;55:12
    Kolbjer S; Wincent J; Martin D; Luthman A; Amark P; Dahlin M; Anderlid B-M
  • Thesis / dissertation: 2012
    Wincent, Josephine
  • Review: LAKARTIDNINGEN. 2010;107(17):1144-1149
    Anderlid B-M; Blennow E; Giacobini M; Nordgren A; Wincent J; Schoumans J; Nordenskjöld M

Grants

Employments

  • Affiliated to Research, Department of Molecular Medicine and Surgery, ̽»¨¾«Ñ¡, 2022-2025

Degrees and Education

  • University Medical Degree, ̽»¨¾«Ñ¡, 2013
  • Degree Of Doctor Of Philosophy, Department of Molecular Medicine and Surgery, ̽»¨¾«Ñ¡, 2012

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