PD Dr. med. Nuria Brämswig

 

Group leader | Senior Physician
Tel.: +49 (251) 83 - 57488
E-Mail: Nuria Brämswig

  • University training and degree

    2002 – 2008 Studies in Human Medicine, Christian-Albrechts-University Kiel, State examination

  • Advanced academic qualifications

    2020 Habilitation in Human Genetics, University Duisburg-Essen (mentors: B. Horsthemke, F. Kaiser, D. Wieczorek)
    2009 Dr. med., University Children’s Hospital Kiel, Department of Pediatric Endocrinology, year of oral exam: 2010 (supervisor: P.M. Holterhus)

  • Postgraduate professional career

    2024 – Senior Physician (Oberärztin) and Group Leader, Centre of Medical Genetics, University Hospital Münster, University Münster
    2022 – 2024 Senior Physician (Oberärztin), Institute of Human Genetics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf
    2017 Specialist in Human Genetics
    2017 – 2019 Part-time work at the Innovation Fund Project TRANSLATE-NAMSE (Center of Rare Diseases, Essen, Germany)
    2009 – 2022 Clinician Scientist, Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen
    2009 – 2013 Postdoctoral Researcher at the Department of Genetics, University of Pennsylvania, Philadelphia, PA, USA (supervisor: K. H. Kaestner)
    2006 – 2009 Clinician Scientist, University Children’s Hospital Kiel, Department of Pediatric Endocrinology

  • Academic memberships and activities

    2024 – Representative of the European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders (ERN ITHACA), University Hospital Münster
    2023 – 2024 Co-representative of the European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders (ERN ITHACA), University Hospital Düsseldorf
    2019 – 2025 Scientific Advisory Board for the journal “medizinischegenetik”
    2016 „Peter Duncan Award“ for the best trainee presentation at the “37th David W. Smith Workshop on Malformations and Morphogenesis” in Lake Arrowhead, CA, USA.
    2015 „Peter Duncan Award“ for the best trainee presentation at the “36th David W. Smith Workshop on Malformations and Morphogenesis” in St. Michaels, MD, USA.

  • Selected publications

    All publications by PD Dr. med. Nuria Brämswig can be found here.

    1. Schmetz A, Lüdecke H-J, Surowy H, Sivalingam S, Bruel AL, Caumes R, Charles P, Chatron N, Chrzanowska K, Codina-Solà M, Colson C, Cuscó I, Denommé-Pichon AS, Edery P, Faivre L, Green A, Heide S, Hsieh T-Z, Hustinx A, Kleinendorst L, Knopp C, Kraft F, Krawitz PM, Lasa-Aranzasti P, Lesca G, López-González V, Maraval J, Mignot C, Neuhann T, Netzer C, Oehl-Jaschkowitz B, Petit F, Philippe C, Posmyk R, Putoux A, Reis A, Sánchez-Soler MJ, Suh J, Tkemaladze T, Tran Mau Them F, Travessa A, Trujillano Lidón L, Valenzuela I, van Haelst MM, Vasileiou G, Vincent-Delorme C, Walther M, Verde P, Bramswig NC*, Wieczorek D*. Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals. Hum Genet 2024 Jan;143(1):71-84. doi: 10.1007/s00439-023-02622-5. Epub 2023 Dec 20.
    2. A Kalmbach, C Schröder, L Klein-Hitpass, K Nordström, P Ulz, E Heitzer, MR Speicher, S Rahmann, D Wieczorek, B Horsthemke, NC Bramswig. “Genome-wide Analysis of the Nucleosome Landscape in Individuals with Coffin-Siris Syndrome.” Cytogenet Genome Res. 2019;159(1):1-11. doi: 10.1159/000503266. Epub 2019 Oct 26.
    3. van der Laan L, Rooney K, Alders M, Relator R, McConkey H, Kerkhof J, Levy MA, Lauffer P, Aerden M, Theunis M, Legius E, Tedder ML, Vissers LELM, Koene S, Ruivenkamp C, Hoffer MJV, Wieczorek D, Bramswig NC, Herget T, González VL, Santos-Simarro F, Tørring PM, Denomme-Pichon AS, Isidor B, Keren B, Julia S, Schaefer E, Francannet C, Maillard PY, Misra-Isrie M, Van Esch H, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P. Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome. Int J Mol Sci. 2022 Nov 8;23(22):13664. doi: 10.3390/ijms232213664.
    4. NC Bramswig*, AM Bertoli-Avella*, B Albrecht, AI Al Aqeel, A Alhashem, N Al-Sannaa, M Bah, K Bröhl, C Depienne, N Dorison, D Doummar, N Ehmke, HM Elbendary, S Gorokhova, D Héron, D Horn, K James, B Keren, A Kuechler, S Ismail, MY Issa, I Marey, M Mayer, J McEvoy-Venneri, A Megarbane, C Mignot, S Mohamed, C Nava, N Philip, C Ravix, A Rolfs, AA Sadek, L Segebrecht, V Stanley, C Trautman, S Valence, L Villard, T Wieland, H Engels, TM Strom, MS Zaki#, JG Gleeson#, H-J Lüdecke#, P Bauer#, D Wieczorek#. “Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).” Hum Genet. 2018 Sep;137(9):753-768. doi: 10.1007/s00439-018-1929-5. Epub 2018 Aug 23.
    5. D Lessel*, C Gehbauer*, NC Bramswig*, C Schluth-Bolard*, S Venkataramanappa*, KLI van Gassen*, M Hempel, TB Haack, A Baresic, CA Genetti, MFA Funari, I Lessel, L Kuhlmann, R Simon, P Liu, J Denecke, A Kuechler, I de Kruijff, M Shoukier, M Lek, T Mullen, HJ Lüdecke, AM Lerario, R Kobbe, T Krieger, B Demeer, M Lebrun, B Keren, C Nava, J Buratti, A Afenjar, M Shinawi, MJ Guillen Sacoto, J Gauthier, FF Hamdan, AM Laberge, PM Campeau, RJ Louie, SS Cathey, I Prinz, AAL Jorge, PA Terhal, B Lenhard, D Wieczorek, TM Strom, PB Agrawal, S Britsch, E Tolosa, C Kubisch. „BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.“ Brain. 2018 Aug 1;141(8):2299-2311. doi: 10.1093/brain/awy173.
    6. NC Bramswig, O Caluseriu, H-J Lüdecke, FV Bolduc, NCL Noel, T Wieland, HM Surowy, H-J Christen, H Engels, TM Strom, D Wieczorek. “Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris Syndrome-like phenotype.” Hum Genet. 2017 Mar;136(3):297-305. doi: 10.1007/s00439-017-1757-z. Epub 2017 Jan 25.
    7. NC Bramswig, H-J Lüdecke, M Pettersson, B Albrecht, RA Bernier, K Cremer, EE Eichler, D Falkenstein, J Gerdts, S Jansen, A Kuechler, M Kvarnung, A Lindstrand, D Nilsson, A Nordgren, R Pfundt, L Spruijt, HM Surowy, BBA de Vries, T Wieland, H Engels, TM Strom, T Kleefstra, D Wieczorek. “Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism”. Hum Genet. 2017 Feb;136(2):179-192. doi: 10.1007/s00439-016-1743-x. Epub 2016 Nov 15.
    8. NC Bramswig, CW Ockeloen, JC Czeschik, AJ van Essen, R Pfundt, J Smeitink, BT Poll-The, H Engels, TM Strom, D Wieczorek, T Kleefstra, H-J Lüdecke. ”Splitting versus Lumping’: Temple-Baraitser and Zimmermann-Laband Syndromes”. Hum Genet. 2015 Oct;134(10):1089-97. doi: 10.1007/s00439-015-1590-1. Epub 2015 Aug 12.
    9. NC Bramswig, H-J Lüdecke, Y Alanay, B Albrecht, A Barthelmie, K Boduroglu, D Braunholz, A Caliebe, KH Chrzanowska, JC Czeschik, S Endele, E Graf, E Guillén-Navarro, PÖ Simsek Kiper, V López-González, I Parenti, J Pozojevic, GE Utine, T Wieland, FJ Kaiser, B Wollnik, TM Strom, D Wieczorek. “Exome sequencing unravels unexpected differential diagnoses in individuals with the initial diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.” Hum Genet. 2015 Jun;134(6):553-68. doi: 10.1007/s00439-015-1535-8. Epub 2015 Feb 28.
    10. NC Bramswig, LJ Everett, J Schug, C Dorrell, C Liu, Y Luo, PR Streeter, A Naji, M Grompe, and KH Kaestner. “Epigenomic plasticity enables human pancreatic - to -cell reprogramming.” J Clin Invest. 2013 Mar;123(3):1275-1284. doi: 10.1172/JCI66514

    * contributed equally