Mads Bak

Mads Bak

Adjunkt


  1. 2019
  2. Udgivet

    A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family. / Eiberg, Hans; Mikkelsen, Annemette F.; Bak, Mads; Tommerup, Niels; Lund, Allan M.; Wenzel, Anne; Sabarinathan, Radhakrishnan; Gorodkin, Jan; Bang-Berthelsen, Claus H.; Hansen, Lars.

    I: Molecular Vision, Bind 25, 2019, s. 1-11.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  3. Udgivet

    Haploinsufficiency of ARHGAP42 is associated with hypertension. / Fjorder, Amanda S.; Rasmussen, Malene B.; Mehrjouy, Mana M.; Nazaryan-Petersen, Lusine; Hansen, Claus; Bak, Mads; Grarup, Niels; Nørremølle, Anne; Larsen, Lars A.; Vestergaard, Henrik; Hansen, Torben; Tommerup, Niels; Bache, Iben.

    I: European Journal of Human Genetics, Bind 27, Nr. 8, 2019, s. 1296-1303.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  4. E-pub ahead of print

    Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome. / Nazaryan-Petersen, Lusine; Oliveira, Inês R; Mehrjouy, Mana M; Mendez, Juan M M; Bak, Mads; Bugge, Merete; Kalscheuer, Vera M; Bache, Iben; Hancks, Dustin C; Tommerup, Niels.

    I: Human Mutation, 2019.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  5. 2018
  6. Udgivet

    Aggressiveness of non-EMT breast cancer cells relies on FBXO11 activity. / Bagger, Sofie Otzen; Hopkinson, Branden Michael; Pandey, Deo Prakash; Bak, Mads; Brydholm, Andreas Vincent; Villadsen, René; Helin, Kristian; Rønnov-Jessen, Lone; Petersen, Ole William; Kim, Jiyoung.

    I: Molecular Cancer, Bind 17, Nr. 1, 171, 2018, s. 1-6.

    Publikation: Bidrag til tidsskriftKommentar/debatForskningfagfællebedømt

  7. Udgivet

    Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement. / Aristidou, Constantia; Theodosiou, Athina; Ketoni, Andria; Bak, Mads; Mehrjouy, Mana M.; Tommerup, Niels; Sismani, Carolina.

    I: Molecular Cytogenetics, Bind 11, 34, 2018.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  8. Udgivet

    Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases. / Aristidou, Constantia; Theodosiou, Athina; Bak, Mads; Mehrjouy, Mana M.; Constantinou, Efthymia; Alexandrou, Angelos; Papaevripidou, Ioannis; Christophidou-Anastasiadou, Violetta; Skordis, Nicos; Kitsiou-Tzeli, Sophia; Tommerup, Niels; Sismani, Carolina.

    I: PLOS ONE, Bind 13, Nr. 10, e0205298, 2018.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  9. Udgivet

    Regulatory variants of FOXG1 in the context of its topological domain organisation. / Mehrjouy, Mana M; Fonseca, Ana Carolina S; Ehmke, Nadja; Paskulin, Giorgio; Novelli, Antonio; Benedicenti, Francesco; Mencarelli, Maria Antonietta; Renieri, Alessandra; Busa, Tiffany; Missirian, Chantal; Hansen, Claus; Abe, Kikue Terada; Speck-Martins, Carlos Eduardo; Vianna-Morgante, Angela M; Bak, Mads; Tommerup, Niels.

    I: European Journal of Human Genetics, Bind 26, Nr. 2, 2018, s. 186–196.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  10. Udgivet

    Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization. / Nazaryan-Petersen, Lusine; Eisfeldt, Jesper; Pettersson, Maria; Lundin, Johanna; Nilsson, Daniel; Wincent, Josephine; Lieden, Agne; Lovmar, Lovisa; Ottosson, Jesper; Gacic, Jelena; Mäkitie, Outi; Nordgren, Ann; Vezzi, Francesco; Wirta, Valtteri; Käller, Max; Hjortshøj, Tina Duelund; Jespersgaard, Cathrine; Houssari, Rayan; Pignata, Laura; Bak, Mads; Tommerup, Niels; Lundberg, Elisabeth Syk; Tümer, Zeynep; Lindstrand, Anna.

    I: PLOS Genetics, Bind 14, Nr. 11, e1007780, 2018.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  11. Udgivet

    Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes. / Halgren, Christina; Nielsen, Nete M.; Nazaryan-Petersen, Lusine; Silahtaroglu, Asli; Collins, Ryan L.; Lowther, Chelsea; Kjaergaard, Susanne; Frisch, Morten; Kirchhoff, Maria; Brøndum-Nielsen, Karen; Lind-Thomsen, Allan; Mang, Yuan; El-Schich, Zahra; Boring, Claire A.; Mehrjouy, Mana M.; Jensen, Peter K.A.; Fagerberg, Christina; Krogh, Lotte N.; Hansen, Jan; Bryndorf, Thue; Hansen, Claus; Talkowski, Michael E.; Bak, Mads; Tommerup, Niels; Bache, Iben.

    I: American Journal of Human Genetics, Bind 102, Nr. 6, 2018, s. 1090-1103.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  12. Udgivet

    Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly. / Slamova, Zuzana; Nazaryan-Petersen, Lusine; Mehrjouy, Mana M.; Drabova, Jana; Hancarova, Miroslava; Marikova, Tatana; Novotna, Drahuse; Vlckova, Marketa; Vlckova, Zdenka; Bak, Mads; Zemanova, Zuzana; Tommerup, Niels; Sedlacek, Zdenek.

    I: Human Mutation, Bind 39, Nr. 5, 2018, s. 709-716.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

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ID: 12016