Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay. Mol Psychiatry. 2025 May; 30(5):1952-1965. View Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay. Abstract
Response to Hamid et al., "Equitable Access of Delandistrogene Moxeparvovec for Patients With Duchenne Muscular Dystrophy". Pediatr Neurol. 2024 Dec; 161:227-228. View Response to Hamid et al., "Equitable Access of Delandistrogene Moxeparvovec for Patients With Duchenne Muscular Dystrophy". Abstract
Bipolar Disorder in a female with CDKL5 Deficiency Disorder: A Case Report. Res Sq. 2024 Sep 10. View Bipolar Disorder in a female with CDKL5 Deficiency Disorder: A Case Report. Abstract
Clinical Characteristics and Outcomes of Children with Acute Catastrophic Brain Injury: A 13-Year Retrospective Cohort Study. Neurocrit Care. 2022 06; 36(3):715-726. View Clinical Characteristics and Outcomes of Children with Acute Catastrophic Brain Injury: A 13-Year Retrospective Cohort Study. Abstract
Developing a New Set of ACGME Milestones for Child Neurology Residency. Pediatr Neurol. 2021 01; 114:47-52. View Developing a New Set of ACGME Milestones for Child Neurology Residency. Abstract
Emerging Subspecialties in Neurology: Neurodevelopmental disabilities. Neurology. 2020 12 15; 95(24):1113-1115. View Emerging Subspecialties in Neurology: Neurodevelopmental disabilities. Abstract
Ethical decision-making for children with neuromuscular disorders in the COVID-19 crisis. Neurology. 2020 08 11; 95(6):260-265. View Ethical decision-making for children with neuromuscular disorders in the COVID-19 crisis. Abstract
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 10 24; 381(17):1644-1652. View Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. Abstract
Ethical Challenges Confronted When Providing Nusinersen Treatment for Spinal Muscular Atrophy. JAMA Pediatr. 2018 Feb 01; 172(2):188-192. View Ethical Challenges Confronted When Providing Nusinersen Treatment for Spinal Muscular Atrophy. Abstract
The Child Neurology Trainee-as-Teacher: A Clinical Teaching Curriculum Tailored to Learners' Needs and Developmental Roles. Pediatr Neurol. 2018 01; 78:41-45. View The Child Neurology Trainee-as-Teacher: A Clinical Teaching Curriculum Tailored to Learners' Needs and Developmental Roles. Abstract
Neurologic Evaluation in Children With Laryngeal Cleft. JAMA Otolaryngol Head Neck Surg. 2017 07 01; 143(7):651-655. View Neurologic Evaluation in Children With Laryngeal Cleft. Abstract
Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective. Pediatr Neurol. 2017 Oct; 75:91-95. View Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective. Abstract
Education on the Brain: A Partnership Between a Pediatric Primary Care Center and Neurology Residency. Clin Pediatr (Phila). 2018 Jan; 57(1):46-51. View Education on the Brain: A Partnership Between a Pediatric Primary Care Center and Neurology Residency. Abstract
Evaluation and Management of Chronic Aspiration in Children With Normal Upper Airway Anatomy. JAMA Otolaryngol Head Neck Surg. 2015 Nov; 141(11):1006-11. View Evaluation and Management of Chronic Aspiration in Children With Normal Upper Airway Anatomy. Abstract
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Neurogenetics. 2016 Jan; 17(1):11-6. View Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Abstract
MRI in assessing children with learning disability, focal findings, and reduced automaticity. Neurology. 2015 Aug 18; 85(7):604-9. View MRI in assessing children with learning disability, focal findings, and reduced automaticity. Abstract
Increased pediatric functional neurological symptom disorders after the Boston marathon bombings: a case series. Pediatr Neurol. 2014 Nov; 51(5):619-23. View Increased pediatric functional neurological symptom disorders after the Boston marathon bombings: a case series. Abstract
Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58. View Copy number variation plays an important role in clinical epilepsy. Abstract
Clinical reasoning: a 14-year-boy with spells of somnolence and cognitive changes. Neurology. 2014 Apr 22; 82(16):e142-6. View Clinical reasoning: a 14-year-boy with spells of somnolence and cognitive changes. Abstract
Functional neurological symptom disorders in a pediatric emergency room: diagnostic accuracy, features, and outcome. Pediatr Neurol. 2014 Aug; 51(2):233-8. View Functional neurological symptom disorders in a pediatric emergency room: diagnostic accuracy, features, and outcome. Abstract
Development and implementation of a quality improvement curriculum for child neurology residents: lessons learned. Pediatr Neurol. 2014 May; 50(5):452-7. View Development and implementation of a quality improvement curriculum for child neurology residents: lessons learned. Abstract
Experience with lacosamide in a series of children with drug-resistant focal epilepsy. Pediatr Neurol. 2011 Jun; 44(6):414-9. View Experience with lacosamide in a series of children with drug-resistant focal epilepsy. Abstract
A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism. Clin Genet. 2012 Mar; 81(3):257-64. View A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism. Abstract
Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010 Apr; 125(4):e727-35. View Clinical genetic testing for patients with autism spectrum disorders. Abstract
Child neurology: autism as a model: considerations for advanced training in behavioral child neurology. Neurology. 2009 Sep 01; 73(9):733-5. View Child neurology: autism as a model: considerations for advanced training in behavioral child neurology. Abstract
A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. J Child Neurol. 2008 Mar; 23(3):349-52. View A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. Abstract
Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation. Neurology. 2007 Apr 17; 68(16):1305-7. View Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation. Abstract
Neonatal subependymal giant cell astrocytoma: new case and review of literature. Pediatr Neurol. 2007 Feb; 36(2):128-31. View Neonatal subependymal giant cell astrocytoma: new case and review of literature. Abstract
Basilar meningitis associated with ethmoid and sphenoid cephaloceles. Pediatr Neurol. 2005 Jul; 33(1):57-60. View Basilar meningitis associated with ethmoid and sphenoid cephaloceles. Abstract
Transient global amnesia in a young adult with cyanotic heart disease. Pediatr Neurol. 2003 Oct; 29(4):334-6. View Transient global amnesia in a young adult with cyanotic heart disease. Abstract
Reliability and validity of a DSM-IV based ADHD screener. Child Neuropsychol. 2000 Mar; 6(1):3-23. View Reliability and validity of a DSM-IV based ADHD screener. Abstract
Neurobehavioral profiles of children with neurofibromatosis 1 referred for learning disabilities are sex-specific. Am J Med Genet. 1996 Apr 09; 67(2):127-32. View Neurobehavioral profiles of children with neurofibromatosis 1 referred for learning disabilities are sex-specific. Abstract
Cerebral edema in acute hepatic failure: clinicopathologic correlation. Pediatr Neurol. 1993 May-Jun; 9(3):224-6. View Cerebral edema in acute hepatic failure: clinicopathologic correlation. Abstract
Regional cerebral perfusion in Landau-Kleffner syndrome and related childhood aphasias. J Nucl Med. 1992 Oct; 33(10):1758-65. View Regional cerebral perfusion in Landau-Kleffner syndrome and related childhood aphasias. Abstract
Juvenile fire setting and the photoparoxysmal response. Ann Neurol. 1992 Aug; 32(2):222-3. View Juvenile fire setting and the photoparoxysmal response. Abstract
Pre-eruptive varicella encephalitis and cerebellar ataxia. Pediatr Neurol. 1992 Jan-Feb; 8(1):69-70. View Pre-eruptive varicella encephalitis and cerebellar ataxia. Abstract
Late effects of central nervous system treatment of acute lymphoblastic leukemia in childhood are sex-dependent. Dev Med Child Neurol. 1990 Mar; 32(3):238-48. View Late effects of central nervous system treatment of acute lymphoblastic leukemia in childhood are sex-dependent. Abstract
Sex differences in cognitive processing in children treated with CNS prophylaxis for acute lymphoblastic leukemia. J Pediatr Psychol. 1990 Feb; 15(1):105-22. View Sex differences in cognitive processing in children treated with CNS prophylaxis for acute lymphoblastic leukemia. Abstract
Nondextrality and autoimmune disorders among relatives of language-disabled boys. Ann Neurol. 1988 Aug; 24(2):267-9. View Nondextrality and autoimmune disorders among relatives of language-disabled boys. Abstract
Concurrence of congenital ocular motor apraxia and other motor problems: an expanded syndrome. Dev Med Child Neurol. 1987 Feb; 29(1):85-90. View Concurrence of congenital ocular motor apraxia and other motor problems: an expanded syndrome. Abstract
Deep tendon reflexes in premature infants. Pediatr Neurol. 1986 Sep-Oct; 2(5):266-71. View Deep tendon reflexes in premature infants. Abstract
Factors influencing the vitreous potassium concentration in the rat. Invest Ophthalmol Vis Sci. 1983 May; 24(5):631-6. View Factors influencing the vitreous potassium concentration in the rat. Abstract
Effect of acetate on hypoglycemic seizures in mice. Diabetes. 1979 Nov; 28(11):1022-6. View Effect of acetate on hypoglycemic seizures in mice. Abstract