John Rosendahl Østergaard

  1. 2021
  2. Published

    Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum. / Ejerskov, Cecilie; Gaustadnes, Mette; Ostergaard, John R.; Krogh, Klaus; Thorsen, Kasper; Borglum, Anders D.; Haagerup, Annette.

    In: Scientific Reports, Vol. 11, 9179, 12.2021.

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

  3. Published

    Congenital Heart Defects and the Risk of Spontaneous Preterm Birth. / Matthiesen, Niels B.; Østergaard, John R.; Hjortdal, Vibeke E.; Henriksen, Tine B.

    In: Journal of Pediatrics, Vol. 229, 02.2021, p. 168-174.e5.

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

  4. Published

    Reply. / Matthiesen, Niels B; Østergaard, John R; Hjortdal, Vibeke E; Henriksen, Tine B.

    In: The Journal of Pediatrics, Vol. 230, 03.2021, p. 273-274.

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

  5. Published

    Spinal manifestations of CLN1 disease start during the early postnatal period. / Nelvagal, H R; Dearborn, J T; Ostergaard, J R; Sands, M S; Cooper, J D.

    In: Neuropathology and Applied Neurobiology, Vol. 47, No. 2, 02.2021.

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

  6. Published

    Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. / Pelletier, Félixe; Perrier, Stefanie; Cayami, Ferdy K; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; van Spaendonk, Rosalina M L; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L; Brais, Bernard; Sylvain, Michel; Sebire, Guillaume; Lourenço, Charles Marques; Bonkowsky, Joshua L; Catsman-Berrevoets, Coriene; Pinto, Pedro S; Tirupathi, Sandya; Strømme, Petter; de Grauw, Ton; Gieruszczak-Bialek, Dorota; Krägeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Icíar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia Garcia, Maria Eugenia; Gasparini, Paolo; Gburek-Augustat, Janina; Gonzalez Moron, Dolores; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M; Innes, A Micheil; Kauffman, Marcelo; Kirwin, Susan M; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melançon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando I; Moutton, Sebastien; Murphy, Raymond P J; Nickel, Miriam; Onay, Hüseyin; Orcesi, Simona; Özkınay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Pineda Marfa, Mercedes; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Rodriguez Espinosa, Norberto; Ronan, Anne; Ostergaard, John R; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Sønderberg Roos, Laura K; Stevens, Cathy A; Synofzik, Matthis; Sztriha, László; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; van de Warrenburg, Bart P; Vázquez-López, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard I; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; van der Knaap, Marjo; Vanderver, Adeline; Martos-Moreno, Gabriel Á; Polychronakos, Constantin; Wolf, Nicole I; Bernard, Geneviève.

    In: The Journal of clinical endocrinology and metabolism, Vol. 106, No. 2, 02.2021, p. e660-e674.

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

  7. 2020
  8. 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

  9. 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

  10. Published

    Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum. / Ejerskov, Cecilie; Gaustadnes, Mette; Østergaard, John Rosendahl; Krogh, Klaus; Thorsen, Kasper; Børglum, Anders; Haagerup, Annette.

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

    Research output: Contribution to conferencePosterResearchpeer-review

  11. Published

    Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum. / Ejerskov, Cecilie; Gaustadnes, Mette; Østergaard, John Rosendahl; Krogh, Klaus; Thorsen, Kasper; Børglum, Anders; Haagerup, Annette.

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

    Research output: Contribution to conferenceConference abstract for conferenceResearchpeer-review

  12. 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

  13. 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

  14. Published

    Bone Geometry, Density, and Microarchitecture in the Distal Radius and Tibia in Adults With Marfan Syndrome Assessed by HR-pQCT. / Folkestad, Lars; Groth, Kristian A; Shanbhogue, Vikram; Hove, Hanne; Kyhl, Kasper; Østergaard, John R; Jørgensen, Niklas Rye; Andersen, Niels H; Gravholt, Claus H.

    In: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, Vol. 35, No. 12, 12.2020, p. 2335-2344.

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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 2019
  21. Published

    Correction : Educational delay and attainment in persons with neurofibromatosis 1 in Denmark (European Journal of Human Genetics, (2019), 10.1038/s41431-019-0359-8). / Doser, Karoline; Kenborg, Line; Andersen, Elisabeth Wreford; Bidstrup, Pernille Envold; Kroyer, Anja; Hove, Hanne; Østergaard, John; Sørensen, Sven Asger; Johansen, Christoffer; Mulvihill, John; Winther, Jeanette Falck; Dalton, Susanne Oksbjerg.

    In: European Journal of Human Genetics, Vol. 27, No. 6, 06.2019, p. 994-996.

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

  22. Published

    Educational delay and attainment in persons with neurofibromatosis 1 in Denmark. / Doser, Karoline; Kenborg, Line; Andersen, Elisabeth Wreford; Bidstrup, Pernille Envold; Kroyer, Anja; Hove, Hanne; Østergaard, John; Sørensen, Sven Asger; Johansen, Christoffer; Mulvihill, John; Winther, Jeanette Falck; Dalton, Susanne Oksbjerg.

    In: European Journal of Human Genetics, Vol. 27, 2019, p. 857-868.

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

  23. Published

    Medical aspects of juvenile neuronal ceroid lipofuscinosis. / Kohlschütter, Alfried; Cooper, Jonathan D. ; Mole, Sara E. ; Østergaard, John Rosendahl; Schulz, Angela.

    Juvenile Neuronal Ceroid Lipofuscinosis: childhood dementia and education. ed. / Stephen von Tetzchner; Bengt Elmerskog; Anne-Grethe Tøssebro; Svein Rokne. Melhus : Snøfugl Forlag, 2019. p. 45-62.

    Research output: Contribution to book/anthology/report/proceedingBook chapterResearchpeer-review

  24. Published

    Fetal Heart Defects and Measures of Cerebral Size. / Lauridsen, Mette Høj; Uldbjerg, Niels; Petersen, Olav Bjørn; Vestergaard, Else Marie; Matthiesen, Niels Bjerregaard; Henriksen, Tine Brink; Østergaard, John Rosendahl; Hjortdal, Vibeke Elisabeth.

    In: The Journal of Pediatrics, Vol. 210, 2019, p. 146-153.

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

  25. 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

  26. 2018
  27. Published

    Gastrointestinal Symptoms in Children and Adolescents With Neurofibromatosis Type 1. / Ejerskov, Cecilie; Krogh, Klaus; Ostergaard, John R; Jønsson, Iben; Haagerup, Annette.

    In: Journal of Pediatric Gastroenterology and Nutrition, Vol. 66, No. 6, 06.2018, p. 872-875.

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

  28. Published

    NF1 and the gastrointestinal canal: A high prevalence of gastrointestinal symptoms correlated to constipation. / Ejerskov, Cecilie; Krogh, Klaus (Member of author collaboration); Børglum, Anders (Member of author collaboration); Østergaard, John Rosendahl (Member of author collaboration); Haagerup, Annette (Member of author collaboration).

    2018.

    Research output: Contribution to conferenceConference abstract for conferenceResearchpeer-review

  29. Published

    NF1 and the gastrointestinal canal: A high prevalence of gastrointestinal symptoms correlated to constipation. / Ejerskov, Cecilie; Krogh, Klaus (Member of author collaboration); Børglum, Anders (Member of author collaboration); Østergaard, John Rosendahl (Member of author collaboration); Haagerup, Annette (Member of author collaboration).

    2018. Poster session presented at 18th European Neurofibromatosis Meeting, Paris, France.

    Research output: Contribution to conferencePosterResearchpeer-review

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