| Year |
Title |
Altmetric |
| 2023
|
Tubers Affecting the Fusiform Face Area Are Associated with Autism Diagnosis.
Annals of Neurology.
93:577-590.
2023
|
|
| 2022
|
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Genetics in Medicine.
24:1283-1296.
2022
|
|
| 2022
|
Long-term cannabidiol treatment for seizures in patients with tuberous sclerosis complex: An open-label extension trial.
Epilepsia.
63:426-439.
2022
|
|
| 2022
|
Disruption of MeCP2–TCF20 complex underlies distinct neurodevelopmental disorders
2022
|
|
| 2022
|
Limited utility of structural MRI to identify the epileptogenic zone in young children with tuberous sclerosis.
Journal of Neuroimaging.
2022
|
|
| 2021
|
Pharmacogenetic Predictors of Cannabidiol Response and Tolerability in Treatment-Resistant Epilepsy.
Clinical Pharmacology and Therapeutics.
110:1368-1380.
2021
|
|
| 2021
|
Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex.
Pediatric Neurology.
123:1-9.
2021
|
|
| 2021
|
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.
Pediatric Neurology.
123:50-66.
2021
|
|
| 2021
|
Antiepileptogenesis and disease modification: Clinical and regulatory issues.
Epilepsia Open.
6:483-492.
2021
|
|
| 2021
|
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
American Journal of Human Genetics.
108:1138-1150.
2021
|
|
| 2021
|
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
American Journal of Human Genetics.
108:857-873.
2021
|
|
| 2021
|
White matter integrity after cannabidiol administration for treatment resistant epilepsy.
Journal of epilepsy.
172.
2021
|
|
| 2021
|
Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders.
HGG Advances.
2.
2021
|
|
| 2021
|
A state-based approach to genomics for rare disease and population screening.
Genetics in Medicine.
23:777-781.
2021
|
|
| 2021
|
Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network.
Annals of Neurology.
89:726-739.
2021
|
|
| 2021
|
Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial.
JAMA Neurology.
78:285-292.
2021
|
|
| 2021
|
The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child’s Best Possible Life.
AJOB empirical bioethics.
12:179-189.
2021
|
|
| 2020
|
Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex.
Pediatric Neurology.
113:46-50.
2020
|
|
| 2020
|
Cannabidiol normalizes resting-state functional connectivity in treatment-resistant epilepsy.
Epilepsy and Behavior.
112.
2020
|
|
| 2020
|
Effects of highly purified cannabidiol (CBD) on fMRI of working memory in treatment-resistant epilepsy.
Epilepsy and Behavior.
112.
2020
|
|
| 2020
|
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
Pediatric Neurology.
112:94-100.
2020
|
|
| 2020
|
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
European Journal of Human Genetics.
28:1422-1431.
2020
|
|
| 2020
|
Cognitive function and adaptive skills after a one-year trial of cannabidiol (CBD) in a pediatric sample with treatment-resistant epilepsy.
Epilepsy and Behavior.
111.
2020
|
|
| 2020
|
Pilot Study of Neurodevelopmental Impact of Early Epilepsy Surgery in Tuberous Sclerosis Complex.
Pediatric Neurology.
109:39-46.
2020
|
|
| 2020
|
Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
Epilepsia.
61:e71-e78.
2020
|
|
| 2020
|
Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History Study.
Pediatric Neurology.
106:10-16.
2020
|
|
| 2020
|
Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex.
PLoS One.
15.
2020
|
|
| 2020
|
Modifying genetic epilepsies – Results from studies on tuberous sclerosis complex.
Neuropharmacology.
166.
2020
|
|
| 2020
|
Response: Letter to the Editor - Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study.
Epilepsia.
61:824.
2020
|
|
| 2020
|
EEG Spectral Features in Sleep of Autism Spectrum Disorders in Children with Tuberous Sclerosis Complex.
Journal of Autism and Developmental Disorders.
50:916-923.
2020
|
|
| 2020
|
Language predictors of autism spectrum disorder in young children with tuberous sclerosis complex.
Epilepsy and Behavior.
103.
2020
|
|
| 2020
|
Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis
2020
|
|
| 2019
|
Early white matter development is abnormal in tuberous sclerosis complex patients who develop autism spectrum disorder.
Journal of Neurodevelopmental Disorders.
11.
2019
|
|
| 2019
|
Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study.
Epilepsia.
60:2428-2436.
2019
|
|
| 2019
|
Resting-State fMRI Networks in Children with Tuberous Sclerosis Complex.
Journal of Neuroimaging.
29:750-759.
2019
|
|
| 2019
|
Drug–drug interactions with cannabidiol (CBD) appear to have no effect on treatment response in an open-label Expanded Access Program.
Epilepsy and Behavior.
98:201-206.
2019
|
|
| 2019
|
Cognitive functioning following long-term cannabidiol use in adults with treatment-resistant epilepsy.
Epilepsy and Behavior.
97:105-110.
2019
|
|
| 2019
|
Long-term safety and efficacy of cannabidiol in children and adults with treatmentresistant Lennox-Gastaut syndrome or Dravet syndrome: Expanded access program results.
Journal of epilepsy.
154:13-20.
2019
|
|
| 2019
|
Reproducibility of structural and diffusion tensor imaging in the TACERN multi-center study.
Frontiers in Integrative Neuroscience.
13.
2019
|
|
| 2019
|
Tuberous Sclerosis Complex Genotypes and Developmental Phenotype.
Pediatric Neurology.
96:58-63.
2019
|
|
| 2019
|
fMRI study of cannabidiol-induced changes in attention control in treatment-resistant epilepsy.
Epilepsy and Behavior.
96:114-121.
2019
|
|
| 2019
|
Higher cannabidiol plasma levels are associated with better seizure response following treatment with a pharmaceutical grade cannabidiol.
Epilepsy and Behavior.
95:131-136.
2019
|
|
| 2019
|
Quality of life in adults enrolled in an open-label study of cannabidiol (CBD) for treatment-resistant epilepsy.
Epilepsy and Behavior.
95:10-17.
2019
|
|
| 2019
|
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
American Journal of Human Genetics.
104:701-708.
2019
|
|
| 2019
|
Impacting development in infants with tuberous sclerosis complex: Multidisciplinary research collaboration.
American Psychologist.
74:356-367.
2019
|
|
| 2019
|
Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complex.
Epilepsia.
60:1721-1732.
2019
|
|
| 2018
|
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.
American Journal of Human Genetics.
103:1022-1029.
2018
|
|
| 2018
|
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Genetics in Medicine.
20:1635-1643.
2018
|
|
| 2018
|
High vigabatrin dosage is associated with lower risk of infantile spasms relapse among children with tuberous sclerosis complex.
Journal of epilepsy.
148:1-7.
2018
|
|
| 2018
|
NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
Annals of Neurology.
84:788-795.
2018
|
|
| 2018
|
Cannabidiol improves frequency and severity of seizures and reduces adverse events in an open-label add-on prospective study.
Epilepsy and Behavior.
87:131-136.
2018
|
|
| 2018
|
Angiomyolipoma rebound tumor growth after discontinuation of everolimus in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis.
PLoS One.
13.
2018
|
|
| 2018
|
Open-label use of highly purified CBD (Epidiolex®) in patients with CDKL5 deficiency disorder and Aicardi, Dup15q, and Doose syndromes.
Epilepsy and Behavior.
86:131-137.
2018
|
|
| 2018
|
Affiliate stigma and caregiver burden in intractable epilepsy.
Epilepsy and Behavior.
85:1-6.
2018
|
|
| 2018
|
Long-term safety and treatment effects of cannabidiol in children and adults with treatment-resistant epilepsies: Expanded access program results.
Epilepsia.
59:1540-1548.
2018
|
|
| 2018
|
Efficacy and safety of topical rapamycin in patients with facial angiofibromas secondary to tuberous sclerosis complex the TREATMENT randomized clinical trial.
JAMA Dermatology.
154:773-780.
2018
|
|
| 2018
|
Systematic reanalysis of genomic data improves quality of variant interpretation
2018
|
|
| 2018
|
Visual and semi-automatic non-invasive detection of interictal fast ripples: A potential biomarker of epilepsy in children with tuberous sclerosis complex.
Clinical Neurophysiology.
129:1458-1466.
2018
|
|
| 2018
|
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Human Genetics.
137:375-388.
2018
|
|
| 2018
|
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
American Journal of Medical Genetics Part A.
176:925-935.
2018
|
|
| 2018
|
Cannabidiol improves frequency and severity of seizures and reduces adverse events in an open-label add-on prospective study
Pongkiat Kankirawatana, Dr Rani Singh, Professor David G Standaert, Dr Yuliang Liu, Dr Leon Dure, Dr Jennifer DeWollfe, Professor Gary Cutter, Dr Tyler Gaston, Dr Ashley Thomas, Professor E. Martina Bebin, Dr. Lawrence Ver Hoef.
Epilepsy and Behavior.
(in press).
2018
|
|
| 2018
|
The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma.
Pediatric Nephrology.
33:101-109.
2018
|
|
| 2017
|
Presentation and diagnosis of tuberous sclerosis complex in infants.
Pediatrics.
140.
2017
|
|
| 2017
|
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
American Journal of Human Genetics.
101:664-685.
2017
|
|
| 2017
|
The use of cannabidiol for seizure management in patients with brain tumor-related epilepsy.
Neurocase.
23:287-291.
2017
|
|
| 2017
|
Interactions between cannabidiol and commonly used antiepileptic drugs.
Epilepsia.
58:1586-1592.
2017
|
|
| 2017
|
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.
PLoS Genetics.
13.
2017
|
|
| 2017
|
Genomic diagnosis for children with intellectual disability and/or developmental delay
2017
|
|
| 2017
|
Social correlates of health status, quality of life, and mood states in patients treated with cannabidiol for epilepsy.
Epilepsy and Behavior.
70:364-369.
2017
|
|
| 2017
|
Eliciting preferences on secondary findings: The Preferences Instrument for Genomic Secondary Results.
Genetics in Medicine.
19:337-344.
2017
|
|
| 2017
|
Neurocutaneous disorders in children.
Pediatrics in Review.
38:119-128.
2017
|
|
| 2017
|
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
American Journal of Human Genetics.
100:117-127.
2017
|
|
| 2016
|
Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011)).
American Journal of Human Genetics.
99:246.
2016
|
|
| 2016
|
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
American Journal of Human Genetics.
98:1051-1066.
2016
|
|
| 2016
|
Long-term use of everolimus in patients with tuberous sclerosis complex: Final results from the EXIST-1 study.
PLoS One.
11.
2016
|
|
| 2016
|
Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants.
Pediatric Neurology.
54:29-34.
2016
|
|
| 2016
|
De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy
2016
|
|
| 2016
|
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy
2016
|
|
| 2014
|
Cannabis, cannabidiol, and epilepsy - From receptors to clinical response.
Epilepsy and Behavior.
41:277-282.
2014
|
|
| 2014
|
Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study
2014
|
|
| 2014
|
The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: Subgroup results from the randomized, placebo-controlled, Phase 3 trial EXIST-1.
Nephrology Dialysis Transplantation.
29:1203-1210.
2014
|
|
| 2014
|
UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration.
Annals of Neurology.
75:793-798.
2014
|
|
| 2013
|
Tuberous sclerosis complex diagnostic criteria update: Recommendations of the 2012 international tuberous sclerosis complex consensus conference.
Pediatric Neurology.
49:243-254.
2013
|
|
| 2013
|
Tuberous sclerosis complex surveillance and management: Recommendations of the 2012 international tuberous sclerosis complex consensus conference.
Pediatric Neurology.
49:255-265.
2013
|
|
| 2013
|
Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): A multicentre, randomised, placebo-controlled phase 3 trial
2013
|
|
| 2011
|
Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopia.
Pediatric Neurology.
45:274-278.
2011
|
|
| 2008
|
Core elements of epilepsy diagnosis and management: Expert consensus from the Leadership in Epilepsy, Advocacy, and Development (LEAD) faculty.
Current Medical Research and Opinion.
24:3463-3477.
2008
|
|
| 2007
|
Pharmacokinetics of levetiracetam in infants and young children with epilepsy.
Epilepsia.
48:1117-1122.
2007
|
|
| 2006
|
Vagus nerve stimulation in children less than 5 years old.
Child's Nervous System.
22:1167-1169.
2006
|
|
| 2004
|
Electroclinical and magnetoencephalographic studies in epilepsy patients with polymicrogyria.
Journal of epilepsy.
62:125-133.
2004
|
|
| 2004
|
Video-EEG study in an adult and a child with eyelid myoclonia with absences
2004
|
|
| 2004
|
Cortical reorganization in malformations of cortical development: A magnetoencephalographic study.
Neurology.
63:1818-1824.
2004
|
|
| 2004
|
Chorea as manifestation of epilepsia partialis continua in a child.
Pediatric Neurology.
31:126-129.
2004
|
|
| 2003
|
Complications of chronic vagus nerve stimulation for epilepsy in children.
Journal of Neurosurgery.
99:500-503.
2003
|
|
| 2003
|
Temporal lobectomy in congenital porencephaly associated with hippocampal sclerosis.
JAMA Neurology.
60:830-834.
2003
|
|
| 2002
|
Efficacy and safety of levetiracetam in children with partial seizures: An open-label trial.
Epilepsia.
43:518-524.
2002
|
|
| 2002
|
Long-term tolerability and efficacy of lamotrigine in pediatic patients with epilepsy.
Journal of Child Neurology.
17:278-285.
2002
|
|
| 2001
|
Pharmacokinetic study of levetiracetam in children.
Epilepsia.
42:1574-1579.
2001
|
|
| 2001
|
Histological appearance of a chronically stimulated vagus nerve in a pediatric patient.
Pediatric Neurosurgery.
35:99-102.
2001
|
|
| 2000
|
Efficacy of vagal nerve stimulation in children with medically refractory epilepsy.
Neurosurgery.
47:1353-1358.
2000
|
|
| 1999
|
Ketosis and epilepsy: 31P spectroscopic imaging at 4.1 T.
Epilepsia.
40:703-707.
1999
|
|
| 1999
|
Rasmussen's encephalitis with concomitant cortical dysplasia: The role of GluR3.
Epilepsia.
40:242-247.
1999
|
|
| 1999
|
The acute management of seizures
1999
|
|
| 1998
|
Dystonia with motor delay in compound heterozygotes for GTP- cyclohydrolase I gene mutations.
Annals of Neurology.
44:10-16.
1998
|
|
| 1998
|
Additional modalities for treating acute seizures in children: Overview.
Journal of Child Neurology.
13.
1998
|
|
| 1998
|
Congenital porencephaly: MR features and relationship to hippocampal sclerosis.
American Journal of Neuroradiology.
19:135-141.
1998
|
|
| 1998
|
Management of acute seizures in children: Discussion.
Journal of Child Neurology.
13.
1998
|
|
| 1998
|
Surgical treatment of hypothalamic hamartoma [3].
Annals of Neurology.
43:273-274.
1998
|
|
| 1997
|
Intrinsic epileptogenesis of hypothalamic hamartomas in gelastic epilepsy.
Annals of Neurology.
42:60-67.
1997
|
|
| 1997
|
Supplementary sensorimotor area epilepsy. Seizure localization, cortical propagation and subcortical activation pathways using ictal SPECT
1997
|
|
| 1997
|
Congenital porencephaly and hippocampal sclerosis: Clinical features and epileptic spectrum.
Neurology.
49:1382-1388.
1997
|
|
| 1997
|
Epilepsy surgery outcome: Comprehensive assessment in children.
Neurology.
48:1368-1374.
1997
|
|
| 1997
|
Oral phenylalanine loading in dopa-responsive dystonia: A possible diagnostic test.
Neurology.
48:1290-1297.
1997
|
|
| 1994
|
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome.
American Journal of Medical Genetics Part A.
52:97-102.
1994
|
|
| 1993
|
Surgical Treatment for Epilepsy in Cerebral Tuberous Sclerosis.
Epilepsia.
34:651-657.
1993
|
|
| 1992
|
Bilateral periodic lateralized epileptiform discharges in Mycoplasma encephalitis.
Pediatric Neurology.
8:292-294.
1992
|
|
| 1990
|
Morphometric Studies in Dominant Olivopontocerebellar Atrophy: Comparison of Cell Losses With Amino Acid Decreases.
JAMA Neurology.
47:188-192.
1990
|
|
| 1988
|
Prognosis in Sturge-Weber Disease: Comparison of Unihemispheric and Bihemispheric Involvement.
Journal of Child Neurology.
3:181-184.
1988
|
|
