Yuan Mang

Yuan Mang

videnskabelig assistent


  1. 2018
  2. Published

    Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes

    Harding, Christina Halgren, Nielsen, N. M., Nazaryan-Petersen, L., Silahtaroglu, Asli, Collins, R. L., Lowther, C., Kjaergaard, S., Frisch, M., Kirchhoff, M., Brøndum-Nielsen, K., Lind-Thomsen, A., Mang, Yuan, El-Schich, Z., Boring, C. A., smf886, smf886, Jensen, P. K. A., Fagerberg, C., Krogh, L. N., Hansen, J., Bryndorf, T., Hansen, C., Talkowski, M. E., Bak, Mads, Tommerup, Niels & Bache, Iben, 2018, In : American Journal of Human Genetics. 102, 6, p. 1090-1103 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. 2017
  4. Published

    A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family

    Abdullah, U., Farooq, Muhammad, Mang, Yuan, Marriam Bakhtiar, S., Fatima, A., Hansen, Lars, Kjær, Klaus Wilbrandt, Larsen, Lars Allan, Faryal, Sanam, Tommerup, Niels & Mahmood Baig, S., Dec 2017, In : European Journal of Medical Genetics. 60, 12, p. 627-630 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Mutations in GABRB3: From febrile seizures to epileptic encephalopathies

    Møller, R. S., Wuttke, T. V., Helbig, I., Marini, C., Johannesen, K. M., Brilstra, E. H., Vaher, U., Borggraefe, I., Talvik, I., Talvik, T., Kluger, G., Francois, L. L., Lesca, G., de Bellescize, J., Blichfeldt, S., Chatron, N., Holert, N., Jacobs, J., Swinkels, M., Betzler, C., Syrbe, S., Nikanorova, M., Myers, C. T., Larsen, L. H. G., Vejzovic, S., Pendziwiat, M., von Spiczak, S., Hopkins, S., Dubbs, H., Mang, Yuan, Mukhin, K., Holthausen, H., van Gassen, K. L., Dahl, H. A., Tommerup, Niels, Mefford, H. C., Rubboli, Guido, Guerrini, R., Lemke, J. R., Lerche, H., Muhle, H. & Maljevic, S., 31 Jan 2017, In : Neurology. 88, 5, p. 483-492 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. 2016
  7. Published

    A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family

    Farooq, Muhammad, Fatima, A., Mang, Yuan, Hansen, Lars, Kjær, Klaus Wilbrandt, Baig, S. M., Larsen, Lars Allan & Tommerup, Niels, Mar 2016, In : Journal of Human Genetics. 61, 3, p. 271-273 3 p.

    Research output: Contribution to journalComment/debateResearchpeer-review

  8. Published

    Benign Infantile Seizures and Paroxysmal Dyskinesia Caused by an SCN8A Mutation

    Gardella, E., Becker, F., Moller, R. S., Schubert, J., Lemke, J. R., Larsen, L. H. G., Eiberg, Hans Rudolf Lytchoff, Nothnagel, M., Thiele, H., Altmueller, J., Syrbe, S., Merkenschlager, A., Bast, T., Steinhoff, B., Nuernberg, P., Mang, Yuan, Moller, L. B., Gellert, P., Heron, S. E., Dibbens, L. M., Weckhuysen, S., Dahl, H. A., Biskup, S., Tommerup, Niels, Hjalgrim, H., Lerche, H., Beniczky, S. & Weber, Y. G., Mar 2016, In : Annals of Neurology. 79, 3, p. 428-436

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    Phenotypic subregions within the split-hand/foot malformation 1 locus

    Rasmussen, Malene Bøgehus, Kreiborg, Sven, Jensen, Per, Bak, Mads, Mang, Yuan, Lodahl, M., Budtz-Joergensen, Esben, Tommerup, Niels, Tranebjærg, Lisbeth & Rendtorff, N. D., Mar 2016, In : Human Genetics. 135, 3, p. 345-457 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. 2015
  11. Published

    THE PHENOTYPIC SPECTRUM ASSOCIATED WITH GABRB3 MUTATIONS: FROM FEBRILE SEIZURES TO SEVERE EPILEPTIC ENCEPHALOPATHIES

    Moller, R. S., Nikanorova, M., Brilstra, E. H., Vaher, U., Talvik, I., Talvik, T., Kluger, G., Lemke, J. R., Myers, C., Larsen, L. H. G., Pendziwiat, M., Mang, Yuan, van Gassen, K. L., Dahl, H. A., Rubboli, G., Tommerup, Niels, Helbig, I., Mefford, H. C. & Muhle, H., Dec 2015, In : Epilepsia. 56, S1, p. 19-19

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  12. Published

    The first mutation in CNGA2 in two brothers with anosmia

    Karstensen, H. G., Mang, Yuan, Fark, T., Hummel, T. & Tommerup, Niels, Sep 2015, In : Clinical Genetics. 88, 3, p. 293-296 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    The phenotypic spectrum of SCN8A encephalopathy

    Larsen, J., Carvill, G. L., Gardella, E., Kluger, G., Schmiedel, G., Barisic, N., Depienne, C., Brilstra, E., Mang, Yuan, Nielsen, Jens Erik Klint, Kirkpatrick, M., Goudie, D., Goldman, R., Jähn, J. A., Jepsen, B., Gill, D., Döcker, M., Biskup, S., McMahon, J. M., Koeleman, B., Harris, M., Braun, K., de Kovel, C. G. F., Marini, C., Specchio, N., Djémié, T., Weckhuysen, S., Tommerup, Niels, Troncoso, M., Troncoso, L., Bevot, A., Wolff, M., Hjalgrim, H., Guerrini, R., Scheffer, I. E., Mefford, H. C., Møller, R. S. & EuroEPINOMICS RES Consortium CRP, E. R. C. C., 3 Feb 2015, In : Neurology. 84, 5, p. 480-9 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. 2014
  15. Published

    Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia

    Minocherhomji, S., Hansen, C., Kim, H., Mang, Yuan, Bak, Mads, Guldberg, P., Papadopoulos, N., Eiberg, Hans Rudolf Lytchoff, Doh, G. D., Møllgård, Kjeld, Hertz, J. M., Nielsen, Jørgen Erik, Ropers, H., Tümer, Asuman Zeynep, Tommerup, Niels, Kalscheuer, V. M. & Silahtaroglu, Asli, 1 Dec 2014, In : Human Molecular Genetics. 23, 23, p. 6163-6176 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

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ID: 922766