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Doriette Soler

Observed names: D. Soler, Doriette M Soler, Doriette M. Soler, Soler, Doriette
Institution: Mater Dei Hospital
OpenAlex ID: A5004050460
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
2009 · Gillian I Rice, Jacquelyn Bond, et al. · Nature Genetics · 691
Characterization of human disease phenotypes associated with mutations in TREX1 , RNASEH2A , RNASEH2B , RNASEH2C , SAMHD1 , ADAR , and IFIH1
2015 · Yanick J. Crow, Diana S. Chase, et al. · American Journal of Medical Genetics Part A · 596
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Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
2013 · Gillian I Rice, Gabriella M A Forte, et al. · The Lancet Neurology · 446
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome
2007 · Gillian Rice, Teresa Patrick, et al. · The American Journal of Human Genetics · 446
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Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
2012 · Thomas Cullup, Ay Lin Kho, et al. · Nature Genetics · 282
International consensus recommendations on the diagnostic work-up for malformations of cortical development
2020 · Renske Oegema, Tahsin Stefan Barakat, et al. · Nature Reviews Neurology · 147
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Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort
2012 · G. L. Davidson, S. M. Murphy, et al. · Journal of Neurology · 105
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations
2011 · Velina Guergueltcheva, Juliane S. Müller, et al. · Journal of Neurology · 97
Vici syndrome—A rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy
2011 · Edith Said, Doriette Soler, et al. · American Journal of Medical Genetics Part A · 32
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity
2020 · Leslie Matalonga, Steven Laurie, et al. · Journal of Molecular Diagnostics · 29
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Genetic landscape of ALS in Malta based on a quinquennial analysis
2022 · Maia Farrugia Wismayer, Andrew Farrugia Wismayer, et al. · Neurobiology of Aging · 11
Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice
2024 · María Eugenia Amato, Alejandra Darling, et al. · European Journal of Paediatric Neurology · 9
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review
2022 · Gianluca D'Onofrio, Antonella Riva, et al. · Brain and Development · 9
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Cerebral function monitoring in term or near term neonates at MDH : preliminary experience and proposal of a guideline
2012 · Stephen Attard, Doriette Soler, et al. · OAR@UM (University of Malta) · 2
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Pelizaeus-Merzbacher Disease as a Cause of Early-Onset Developmental Delay: A Case Report
2025 · Michela Galea, Miriana Cocker, et al. · Cureus · 1
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Pilot of a Child Health Electronic Surveillance System (CHESS) in Malta
2007 · Doriette Soler, Dennis Baldacchino, et al. · Journal of Public Health · 1
A Case of Atypical Presentation of Paroxysmal Movement Disorder, Contributed to PRRT2 Gene Variant
2026 · Mariah Pace, Doriette Soler · Journal of Child Neurology
Malformations of cortical development: international consensus recommendations on diagnostic work-up
2020 · Renske Oegema, T Barakat, et al. · European Journal of Human Genetics
Using antiepileptic drugs in children : recent developments and recommendations
2017 · Hana Shabbi, Anne Marie Scerri, et al. · OAR@UM (University of Malta)
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Video-EEG long term monitoring as a new service at Mater Dei Hospital
2016 · Gilbert Gravino, Bernard Galea, et al. · OAR@UM (University of Malta)
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The clinical bank of BBMRI.mt
2015 · Vella, Joanna, Grech, Laura, et al. · OAR@UM (University of Malta)
Vici sy Nature Cullup et al. (Supplemental Information)
2013 · Thomas Cullup, Ay Lin Kho, et al.
International NewsSpecial Educational Needs Teams (SENT) Project
2004 · Stanley Zammit, Doriette Soler, et al. · DECP Debate
Works count: 27
Citation count: 2,904
H-index: 11
I10-index: 11
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