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
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
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
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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