John Rosendahl Østergaard

  1. 2020
  2. Published

    NF1 mutational spectrum and NF1 severity in 283 unrelated single-center patients with neurofibromatosis type 1. / Ejerskov, Cecilie; Gaustadnes, Mette; Østergaard, John Rosendahl; Thorsen, Kasper; Haagerup, Annette.

    2020. Abstract from 20th European NF Meeting, Rotterdam, Netherlands.

    Research output: Contribution to conferenceConference abstract for conferenceResearchpeer-review

  3. Published

    NF1 mutational spectrum and NF1 severity in 283 unrelated single-center patients with neurofibromatosis type 1. / Ejerskov, Cecilie; Gaustadnes, Mette; Østergaard, John Rosendahl; Thorsen, Kasper; Haagerup, Annette.

    2020. Poster session presented at 20th European NF Meeting, Rotterdam, Netherlands.

    Research output: Contribution to conferencePosterResearchpeer-review

  4. Published

    KMT2B-related disorders : expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. / Cif, Laura; Demailly, Diane; Lin, Jean Pierre; Barwick, Katy E.; Sa, Mario; Abela, Lucia; Malhotra, Sony; Chong, Wui K.; Steel, Dora; Sanchis-Juan, Alba; Ngoh, Adeline; Trump, Natalie; Meyer, Esther; Vasques, Xavier; Rankin, Julia; Allain, Meredith W.; Applegate, Carolyn D.; Attaripour Isfahani, Sanaz; Baleine, Julien; Balint, Bettina; Bassetti, Jennifer A.; Baple, Emma L.; Bhatia, Kailash P.; Blanchet, Catherine; Burglen, Lydie; Cambonie, Gilles; Seng, Emilie Chan; Bastaraud, Sandra Chantot; Cyprien, Fabienne; Coubes, Christine; d'Hardemare, Vincent; Deciphering Developmental Disorders Study; Doja, Asif; Dorison, Nathalie; Doummar, Diane; Dy-Hollins, Marisela E.; Farrelly, Ellyn; Fitzpatrick, David R.; Fearon, Conor; Fieg, Elizabeth L.; Fogel, Brent L.; Forman, Eva B.; Fox, Rachel G.; Genomics England Research Consortium; Gahl, William A.; Galosi, Serena; Gonzalez, Victoria; Graves, Tracey D.; Gregory, Allison; Hallett, Mark; Hasegawa, Harutomo; Hayflick, Susan J ; Hamosh, Ada ; Hully, Marie; Jansen, Sandra ; Jeong, Suh Young ; Krier, Joel B ; Krystal, Sidney ; Kumar, Kishore R ; Laurencin, Chloé ; Lee, Hane; Lesca, Gaetan; François, Laurence Lion ; Lynch, Timothy ; Mahant, Neil ; Martinez-Agosto, Julian A ; Milesi, Christophe ; Mills, Kelly A; Mondain, Michel ; Morales-Briceno, Hugo ; NIHR BioResource ; Ostergaard, John R.; Undiagnosed Diseases Network.

    In: Brain : a journal of neurology, Vol. 143, No. 11, 11.2020, p. 3242-3261.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  5. Published

    Forming and ending marital or cohabiting relationships in a Danish population-based cohort of individuals with neurofibromatosis 1. / Kjaer, Trille Kristina; Andersen, Elisabeth Wreford; Olsen, Maja; Kenborg, Line; Bidstrup, Pernille Envold; Doser, Karoline; Hove, Hanne; Østergaard, John R.; Johansen, Christoffer; Sørensen, Sven Asger; Mulvihill, John J.; Winther, Jeanette F.; Dalton, Susanne Oksbjerg.

    In: European Journal of Human Genetics, Vol. 28, 08.2020, p. 1028-1033.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  6. Published

    Clinical characteristics and quality of life, depression, and anxiety in adults with neurofibromatosis type 1 : A nationwide study. / Doser, Karoline; Andersen, Elisabeth Wreford; Kenborg, Line; Dalton, Susanne Oksbjerg; Jepsen, Jens Richardt Møllegaard; Krøyer, Anja; Østergaard, John; Hove, Hanne; Sørensen, Sven Asger; Johansen, Christoffer; Mulvihill, John; Winther, Jeanette Falck; Bidstrup, Pernille Envold.

    In: American Journal of Medical Genetics. Part A, Vol. 182, No. 7, 07.2020, p. 1704-1715.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  7. Published

    Limited Clinical Application and Concerns of Bias in Long-term Risk of Epilepsy, Psychiatric Disorders, and Mortality Following Febrile Seizures. / Granild-Jensen, Jakob Bie; Matthiesen, Niels Bjerregaard; Østergaard, John R.

    In: JAMA Pediatrics, Vol. 174, No. 7, 07.2020, p. 729-730.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperComment/debate/letter to the editorResearchpeer-review

  8. Published

    Prevalence of mental disorders in children and adolescents with cerebral palsy : Danish nationwide follow-up study. / Rackauskaite, Gija; Bilenberg, Niels; Uldall, Peter; Bech, Bodil Hammer; Østergaard, John.

    In: European Journal of Paediatric Neurology, Vol. 27, 07.2020, p. 98-103.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  9. Published

    Multisystem burden of neurofibromatosis 1 in Denmark : registry- and population-based rates of hospitalizations over the life span. / Kenborg, Line; Duun-Henriksen, Anne Katrine; Dalton, Susanne O.; Bidstrup, Pernille E.; Doser, Karoline; Rugbjerg, Kathrine; Pedersen, Camilla; Krøyer, Anja; Johansen, Christoffer; Andersen, Klaus Kaae; Østergaard, John R.; Hove, Hanne; Sørensen, Sven Asger; Riccardi, Vincent M.; Mulvihill, John J.; Winther, Jeanette F.

    In: Genetics in Medicine, Vol. 22, No. 6, 06.2020, p. 1069-1078.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  10. Published

    Cardiac pathology in neuronal ceroid lipofuscinoses (NCL) : More than a mere co-morbidity. / Rietdorf, Katja; Coode, Emily E; Schulz, Angela; Wibbeler, Eva; Bootman, Martin D; Ostergaard, John R.

    In: Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1866, No. 9, 165643, 2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperReviewResearchpeer-review

  11. 2019
  12. Published

    Do individuals with Angelman syndrome have a maladaptive behavior? / Ostergaard, John R.

    In: American Journal of Medical Genetics. Part A, Vol. 179, No. 11, 11.2019, p. 2317-2318.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperLetterResearchpeer-review

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