Smeland, Marie Louise Falkenberg

Universitetslektor Department of Clinical Medicine marie.l.smeland@uit.no

Marie Louise Falkenberg Smeland

About
Research and teaching

Publications

Scientific articles and book chapters
Other

Stephanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Robin Amanda Liang et al.:

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 et al.:

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 et al.:

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 et al.:

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 et al.:

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 et al.:

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 et al.:

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 et al.:

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 et al.:

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. October 2021 DOI

Raman Kumar, Sabrina Oishi, Suzy Alexander, Maria Kasherman, Michelle Sanchez Vega, Atma Ivancevic et al.:

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 et al.:

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 et al.:

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 et al.:

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 et al.:

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 et al.:

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 et al.:

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 et al.:

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 et al.:

A novel PIK3CA mutation in Megalencephaly – capillary malformation syndrome with extreme brain overgrowth and 45,X mosaicism: related or coincidental phenomena?

2017