Publications & NEwsletters

Recent Publications

Dr. Pierpont's Publications

Dr. Hudock's Publications

Publications by Condition

Adrenoleukodystrophy (ALD)

Neurocognitive and mental health impact of adrenoleukodystrophy across the lifespan: Insights for the era of newborn screening

Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy

Primary Adrenal Insufficiency in a Boy with Type I Diabetes: The Importance of Considering X-linked Adrenoleukodystrophy

Differential outcomes for frontal versus posterior cerebral adrenoleukodystrophy

Differential Outcomes for Frontal versus Posterior Demyelination in Childhood Adrenoleukodystrophy

Neurocognitive Benchmarks Following Transplant for Emerging Cerebal Adrenoleukodystrophy

State-Wide Implementaion of Newborn Screening for X-linked Adrenoleukodystrophy

Association between APOE4 and Biomarkers in Cerebral Adrenoleukodystrophy

Post-transplant Adaptive Function in Childhood Cerebal Adrenoleukodystrophy

Neurocognitive Trajectory of Boys Who Recieved a Hematopoeitic Stem Cell Transplant at an Eary Stage of Childhood Cerebral Adrenoleukodystrophy

Autism Spectrum Disorder (ASD)

A dimensional approach to neurodevelopmental differences in genetically well-defined populations: What's next?

Social Behavior in RASopathies and Idiopathic Autism

Understanding the Needs of Families of Children who are Deaf/Hard of Hearing with an Autism Spectrum Disorder

Adults with Autism Spectrum Disorder

The Use of Video Self-Modeling and Peer Training to Increase Social Engagement in Preschool Children on the Autism Spectrum

Cardiofaciocutaneous Syndrome (CFC)

Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti-seizure medication

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study

Behavioral Functioning in Cardiofaciocutaneous Syndrome: Risk Factors and Impact on Parenting Expereince

Effects of Germline Mutations in the Ras/MAPK Signaling Pathways on Adaptive Behavior: Cardiofaciocutaneous Syndrome and Noonan Syndrome

Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnoses, and Management Guidelines

Costello syndrome (CS)

Fragile x syndrome

A Neurodevelopmental Perspective on the Acquisition of Nonverbal Cognitive Skills in Adolescents With Fragile X Syndrome

Contribitions of Phonolohical and Verbal Working Memory to Language Development in Adolescents with Fragile X Syndrome

Hypophosphatasia (HPP)

Impact of Pediatric Hypophosphatasia on Behavioral Health and Quality of Life

Neurofibromatosis type 1 (NF1)

Emotional Functioning among Children with Neurofibromatosis Type 1 or Noonan Syndrome

Social Skills in Children with Rasopathies: A Comparison of Noonan Syndrome and Neurofibromatosis Type 1

Noonan syndrome (NS)

A dimensional approach to neurodevelopmental differences in genetically well-defined populations: What's next?

The Language Phenotype of Children and Adolescents with Noonan Syndrome

Neuropsychological Functioning in Individuals with Noonan Syndrome: A Systematic Literature Review with Educational and Treatment Recommendations

Effects of Germline Mutations in the Ras/MAPK Signaling Pathways on Adaptive Behavior: Cardiofaciocutaneous Syndrome and Noonan Syndrome

Learning and Memory in Children with Noonan Syndrome

Emotional Functioning among Children with Neurofibromatosis Type 1 or Noonan Syndrome

Social Skills in Children with Rasopathies: A Comparison of Noonan syndrome and Neurofibromatosis Type 1

Attention Skills and Executive Functioning in Children with Noonan Syndrome and their Unaffected Siblings

Genotype Differences in Cognitive Functioning in Noonan Syndrome

general RASopathies Studies

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy

A dimensional approach to neurodevelopmental differences in genetically well-defined populations: What's next?

The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery

Social Behavior in RASopathies and Idiopathic Autism

Newsletters

Hypophosphatasia Newsletter

Noonan Syndrome Newsletter

RASOPATHIES AND Idiopathic ASD Study NEwsletter

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