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Susana Boronat

Gastrointestinal problems in 15q duplication syndrome
2015 · Elias A. Shaaya, Sarah F. Pollack, et al. · European Journal of Medical Genetics · 48
Correlation between morphological MRI findings and specific diagnostic categories in fetal alcohol spectrum disorders
2016 · S. Boronat, A. Sánchez-Montañez, et al. · European Journal of Medical Genetics · 46
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases
2022 · Gemma Bullich, Leslie Matalonga, et al. · Journal of Molecular Diagnostics · 32
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Two-stage case-control association study of dopamine-related genes and migraine
2009 · Roser Corominas, Marta Ribases, et al. · BMC Medical Genetics · 32
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Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A + Dravet syndrome: Insights from the ENVISION natural history study
2023 · M. Scott Perry, Ingrid E. Scheffer, et al. · Epilepsia · 29
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Hippocampal Abnormalities in Magnetic Resonance Imaging (MRI) of 15q Duplication Syndromes
2014 · Susana Boronat, William A. Mehan, et al. · Journal of Child Neurology · 29
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
2017 · Silvia Vidal, Núria Brandi, et al. · Scientific Reports · 28
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Lymphedema in tuberous sclerosis complex
2014 · Alexandra L. Geffrey, Julianna E. Shinnick, et al. · American Journal of Medical Genetics Part A · 28
Intracranial Arteriopathy in Tuberous Sclerosis Complex
2013 · Susana Boronat, Elias A. Shaaya, et al. · Journal of Child Neurology · 27
Less common manifestations in TSC
2018 · Susana Boronat, Ignasi Barber · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 26
Tuberous sclerosis complex without tubers and subependymal nodules: a phenotype–genotype study
2013 · S. Boronat, E.A. Shaaya, et al. · Clinical Genetics · 25
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
2019 · Clara Xiol, Silvia Vidal, et al. · Scientific Reports · 24
Sclerotic bone lesions in tuberous sclerosis complex: A genotype–phenotype study
2017 · Susana Boronat, Ignasi Barber, et al. · American Journal of Medical Genetics Part A · 24
Cerebellar lesions are associated with TSC2 mutations in tuberous sclerosis complex: a retrospective record review study
2017 · Susana Boronat, Elizabeth Anne Thiele, et al. · Developmental Medicine & Child Neurology · 22
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
2022 · Laura Blasco-Pérez, Mar Costa-Roger, et al. · International Journal of Molecular Sciences · 21
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Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature
2017 · Irene Valenzuela, Susana Boronat, et al. · European Journal of Medical Genetics · 21
Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings
2016 · Jose de Grazia, Ignacio Delgado, et al. · Brain and Development · 19
Seizures and electroencephalography findings in 61 patients with fetal alcohol spectrum disorders
2016 · S. Boronat, M. Vicente, et al. · European Journal of Medical Genetics · 18
Electroencephalographic patterns during sleep in children with chromosome 15q11.2-13.1 duplications (Dup15q)
2016 · Dimitrios Arkilo, Orrin Devinsky, et al. · Epilepsy & Behavior · 18
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Neurologic Care of COVID-19 in Children
2021 · Susana Boronat · Frontiers in Neurology · 17
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Arachnoid cysts in tuberous sclerosis complex
2013 · Susana Boronat, Paul Caruso, et al. · Brain and Development · 17
Real‐world use of cenobamate in pediatric focal epilepsies and developmental epileptic encephalopathies: A multicenter retrospective series
2025 · Víctor Soto‐Insuga, Adrián Valls Carbó, et al. · Epilepsia · 13
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells
2024 · Zain Awamleh, Sanaa Choufani, et al. · European Journal of Human Genetics · 13
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Absence of subependymal nodules in patients with tubers suggests possible neuroectodermal mosaicism in tuberous sclerosis complex
2014 · Susana Boronat, Paul Caruso, et al. · Developmental Medicine & Child Neurology · 13
Rib and vertebral bone fibrous dysplasia in a child with tuberous sclerosis complex
2015 · Patrick Li, Susana Boronat, et al. · American Journal of Medical Genetics Part A · 12
Works count: 98
Citation count: 755
H-index: 18
I10-index: 28
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