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1.
Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.
N Engl J Med
; 384(22): 2159-2161, 2021 06 03.
Article
in English
| MEDLINE | ID: mdl-34077649
2.
A randomized controlled trial of levodopa in patients with Angelman syndrome.
Am J Med Genet A
; 176(5): 1099-1107, 2018 05.
Article
in English
| MEDLINE | ID: mdl-28944563
3.
Defining the phenotypic spectrum of SLC6A1 mutations.
Epilepsia
; 59(2): 389-402, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29315614
4.
Sunflower Syndrome: A Survey of Provider Awareness and Management Preferences.
Pediatr Neurol
; 152: 177-183, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38295719
5.
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development.
Nat Genet
; 55(2): 209-220, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36635388
6.
Analysis of EEG patterns and genotypes in patients with Angelman syndrome.
Epilepsy Behav
; 23(3): 261-5, 2012 Mar.
Article
in English
| MEDLINE | ID: mdl-22341959
7.
Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics.
Commun Biol
; 5(1): 1374, 2022 12 15.
Article
in English
| MEDLINE | ID: mdl-36522453
8.
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.
Mol Genet Genomic Med
; 10(3): e1843, 2022 03.
Article
in English
| MEDLINE | ID: mdl-35150089
9.
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Nat Commun
; 13(1): 4057, 2022 07 26.
Article
in English
| MEDLINE | ID: mdl-35882841
10.
Angelman syndrome: Mutations influence features in early childhood.
Am J Med Genet A
; 155A(1): 81-90, 2011 Jan.
Article
in English
| MEDLINE | ID: mdl-21204213
11.
A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome.
Am J Med Genet A
; 155A(12): 2956-63, 2011 Dec.
Article
in English
| MEDLINE | ID: mdl-22002941
12.
Multicentric infantile hemangiopericytoma: case report and review of the literature.
J Pediatr Hematol Oncol
; 33(4): e166-70, 2011 May.
Article
in English
| MEDLINE | ID: mdl-21516017
13.
Clinical Characterization of Epilepsy in Children With Angelman Syndrome.
Pediatr Neurol
; 124: 42-50, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34536900
14.
Does the first hour of continuous electroencephalography predict neonatal seizures?
Arch Dis Child Fetal Neonatal Ed
; 106(2): 162-167, 2021 Mar.
Article
in English
| MEDLINE | ID: mdl-32928896
15.
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.
Am J Med Genet A
; 152A(8): 1994-2001, 2010 Aug.
Article
in English
| MEDLINE | ID: mdl-20635355
16.
Levetiracetam Versus Phenobarbital for Neonatal Seizures: A Randomized Controlled Trial.
Pediatrics
; 145(6)2020 06.
Article
in English
| MEDLINE | ID: mdl-32385134
17.
Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options.
Epilepsia
; 50(11): 2369-76, 2009 Nov.
Article
in English
| MEDLINE | ID: mdl-19453717
18.
Assessing the Feasibility of Providing a Real-Time Response to Seizures Detected With Continuous Long-Term Neonatal Electroencephalography Monitoring.
J Clin Neurophysiol
; 36(1): 9-13, 2019 Jan.
Article
in English
| MEDLINE | ID: mdl-30289769
19.
Author Correction: Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics.
Commun Biol
; 6(1): 41, 2023 Jan 13.
Article
in English
| MEDLINE | ID: mdl-36639573
20.
Author Correction: Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics.
Commun Biol
; 6(1): 24, 2023 Jan 10.
Article
in English
| MEDLINE | ID: mdl-36627373