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Universitetslektor Institutt for klinisk medisin marie.l.smeland@uit.no

Marie Louise Falkenberg Smeland



  • Stephanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Robin Amanda Liang m.fl.:
    Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
    Brain 2024 ARKIV / DOI
  • Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco m.fl.:
    Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
    Genome Medicine 2024 DOI
  • Sara E. Sheppard, Laura Bryant, Rochelle N. Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren m.fl.:
    Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
    Science Advances 2023 DOI
  • Francesca Peluso, Stefano G Caraffi, Gianluca Contrò, Lara Valeri, Manuela Napoli, Giorgia Carboni m.fl.:
    Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
    Journal of Medical Genetics 2023 DOI
  • Annelise Y. Mah-Som, Jil Daw, Diana Huynh, Mengcheng Wu, Benjamin C. Creekmore, William Burns m.fl.:
    An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP
    American Journal of Human Genetics 2023 DOI
  • Nina McTiernan, Lisbeth Tranebjærg, Anna Steensen Bjørheim, Jacob S. Hogue, William G. Wilson, Berkley Schmidt m.fl.:
    Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation
    Human Genetics 2022 DOI
  • Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Francesca Tumiatti, Maura Masciadri, Marie Smeland m.fl.:
    Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome
    International Journal of Molecular Sciences 2022 DOI
  • Marie Falkenberg Smeland, Pascal Brouillard, Trine Prescott, Laurence M. Boon, Bodil Hvingel, Cecilie Valborg Nordbakken m.fl.:
    Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis
    Journal of Medical Genetics 2021 DOI
  • Oliver Murch, Vani Jain, Andreas Benneche, Kay Metcalfe, Emma Hobson, Katrina Prescott m.fl.:
    Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature
    European Journal of Human Genetics 14. oktober 2021 DOI
  • Raman Kumar, Sabrina Oishi, Suzy Alexander, Maria Kasherman, Michelle Sanchez Vega, Atma Ivancevic m.fl.:
    Partial loss of USP9X function leads to a male neurodevelopmental and behavioral disorder converging on transforming growth factor β signaling
    Biological Psychiatry 2019 DOI
  • Marie Falkenberg Smeland, Conor McClenaghan, Helen I. Roessler, Sanne Savelberg, Geir Åsmund Myge Hansen, Helene Hjellnes m.fl.:
    ABCC9-related intellectual disability myopathy syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
    Nature Communications 2019 ARKIV / DOI
  • Karin Weiss, Hayley P. Lazar, Alina Kurolap, Ariel F. Martinez, Tamar Paperna, Lior Cohen m.fl.:
    The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
    Genetics in Medicine 2019 DOI
  • Maria Blomqvist, Marie Falkenberg Smeland, Julia Lindgren, Per Sikora, Hilde Monica Frostad Riise Stensland, Jorge Asin-Cayuela :
    β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA
    Cold Spring Harbor Molecular Case Studies 2019 FULLTEKST / DOI
  • Morad Ansari, Gemma Poke, Quentin Ferry, Kathleen Williamson, Roland Aldridge, Alison M Meynert m.fl.:
    Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
    Journal of Medical Genetics 2014 DOI
  • Claudia Voigt, André Mégarbané, Kornelia Neveling, Johanna Christina Czeschik, Beate Albrecht, Bert Callewaert m.fl.:
    Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations
    Orphanet Journal of Rare Diseases 2013 DOI
  • Karin Weiss, Hayley P. Lazar, Alina Kurolap, Ariel F. Martinez, Tamar Paperna, Lior Cohen m.fl.:
    Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis (Genetics in Medicine, (2020), 22, 2, (389-397), 10.1038/s41436-019-0612-0)
    Genetics in Medicine 2020 DOI
  • Hilde Jensvoll, Marie Falkenberg Smeland, Heidi Tiller, Øystein Lunde Holla, Trine Prescott, Anders Vik :
    En gravid kvinne med pancytopeni
    Tidsskrift for Den norske legeforening 2019 DOI
  • Karin Weiss, Hayley Lazar, Alina Kurolap, Ariel Martinez, Tamar Paperna, Lior Cohen m.fl.:
    Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype?phenotype correlations, and molecular basis (Genetics in Medicine, (2019), 10.1038/s41436-019-0612-0)
    Genetics in Medicine 2019 DOI
  • Marie Falkenberg Smeland, Arild Leknessund, N Hickson, Kristin Sjåvik, Agnete Jørgensen, Trine Prescott :
    A novel PIK3CA mutation in Megalencephaly – capillary malformation syndrome with extreme brain overgrowth and 45,X mosaicism: related or coincidental phenomena?
    2017
  • Marie Falkenberg Smeland, Mona Nystad, Arild Leknessund, Nick Hickson, Kristin Sjåvik, Agnete Jørgensen m.fl.:
    A novel PIK3CA mutation in Megalencephaly – capillary malformation syndrome with extreme brain overgrowth and 45,X mosaicism: related or coincidental phenomena?
    2017
  • Marie Falkenberg Smeland, Mona Nystad, Arild Leknessund, Nick Hickson, Kristin Sjåvik, Agnete Jørgensen m.fl.:
    A novel PIK3CA mutation in Megalencephaly – capillary malformation syndrome with extreme brain overgrowth and 45,X mosaicism: related or coincidental phenomena?
    2017

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