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Marie Falkenberg Smeland

Observed names: Marie F Smeland, Marie F. Smeland, Marie Smeland, Smeland, Marie, Smeland, Marie F, Smeland, Marie F., Smeland, Marie Falkenberg
ORCID: 0000-0002-1015-6338
Observed ORCID: 0000-0002-1015-6338
OpenAlex ID: A5042386251
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
2018 · Anke Van Dijck, Anneke T. Vulto-van Silfhout, et al. · Biological Psychiatry · 169
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
2014 · Morad Ansari, Gemma Poke, et al. · Journal of Medical Genetics · 165
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The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
2019 · Karin Weiss, Hayley P. Lazar, et al. · Genetics in Medicine · 91
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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
2019 · Brett V. Johnson, Raman Kumar, et al. · Biological Psychiatry · 68
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Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations
2013 · Claudia Voigt, André Mégarbané, et al. · Orphanet Journal of Rare Diseases · 55
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ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
2019 · Marie F. Smeland, Conor McClenaghan, et al. · Nature Communications · 46
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β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA
2019 · Maria Blomqvist, Marie Falkenberg Smeland, et al. · Molecular Case Studies · 29
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Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
2023 · Francesca Peluso, Stefano G Caraffi, et al. · Journal of Medical Genetics · 17
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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
2023 · Sarah E. Sheppard, Laura Bryant, et al. · Science Advances · 17
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
2024 · Stephanie Efthymiou, Marcello Scala, et al. · Brain · 15
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Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature
2021 · Oliver Murch, Vani Jain, et al. · European Journal of Human Genetics · 14
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Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome
2022 · Ilaria Bestetti, Milena Crippa, et al. · International Journal of Molecular Sciences · 13
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An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP
2023 · Annelise Y. Mah-Som, Jil Daw, et al. · The American Journal of Human Genetics · 11
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Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis
2021 · Marie F. Smeland, Pascal Brouillard, et al. · Journal of Medical Genetics · 9
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Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
2019 · Karin Weiss, Hayley P. Lazar, et al. · Genetics in Medicine · 9
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Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
2024 · Sissy Bassani, Jacqueline Chrast, et al. · Genome Medicine · 7
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Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder
2026 · James Lambton, Shotaro Asano, et al. · The American Journal of Human Genetics · 3
A pregnant woman with pancytopenia
2019 · Hilde Jensvoll, Marie Falkenberg Smeland, et al. · Tidsskrift for Den norske legeforening · 2
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Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability
2025 · Ariane Kröll-Hermi, Corinne Stoetzel, et al. · The American Journal of Human Genetics · 1
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Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
2024 · Sissy Bassani, Jacqueline Chrast, et al. · medRxiv · 1
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Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9 -Related Intellectual Disability and Myopathy Syndrome
2026 · Vini Nagaraj, Quentin Hugo Thomas, et al. · Neurology Genetics
Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder
2026 · James Lambton, Shotaro Asano, et al. · Newcastle University ePrints (Newcastle Univesity)
Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder
2025 · James Lambton, Shotaro Asano, et al. · medRxiv
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Scientific Business Abstracts
2024 · Faye Cooles, Gemma Vidal-Pedrola, et al. · QJM
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A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in VCP
2023 · Annelise Y. Mah-Som, Jil Daw, et al. · medRxiv
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Works count: 34
Citation count: 744
H-index: 12
I10-index: 13
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