Area of research
Neurology · Pulmonary and Respiratory Medicine
Research interest
Research interests include Neurofibromatosis and Schwannoma Cases, Sarcoma Diagnosis and Treatment, Neuroblastoma Research and Treatments, and Meningioma and schwannoma management.
RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases
Diazoxide Choline Extended-release Tablets in Prader-Willi Syndrome: A Randomized, Double-blind, Withdrawal Period Study
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
ReNeu: A Pivotal, Phase IIb Trial of Mirdametinib in Adults and Children With Symptomatic Neurofibromatosis Type 1-Associated Plexiform Neurofibroma
Consensus recommendations for an integrated diagnostic approach to peripheral nerve sheath tumors arising in the setting of Neurofibromatosis Type 1
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
ReNeu: A pivotal phase 2b trial of mirdametinib in children and adults with neurofibromatosis type 1 (NF1)-associated symptomatic inoperable plexiform neurofibroma (PN).
Personal journeys to and in human genetics and dysmorphology
Genomic Patterns of Malignant Peripheral Nerve Sheath Tumor (MPNST) Evolution Correlate with Clinical Outcome and Are Detectable in Cell-Free DNA
Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial
Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants
The Use of MEK Inhibitors in Neurofibromatosis Type 1–Associated Tumors and Management of Toxicities
A phase II study of continuous oral mTOR inhibitor everolimus for recurrent, radiographic-progressive neurofibromatosis type 1–associated pediatric low-grade glioma: a Neurofibromatosis Clinical Trials Consortium study
Visual outcomes following everolimus targeted therapy for neurofibromatosis type 1‐associated optic pathway gliomas in children
Are Some Randomized Clinical Trials Impossible?
Health Supervision for Children With Neurofibromatosis Type 1
Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
Cognition, ADHD Symptoms, and Functional Impairment in Children and Adolescents With Neurofibromatosis Type 1
Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1
Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2
Evaluation of racial disparities in pediatric optic pathway glioma incidence: Results from the Surveillance, Epidemiology, and End Results Program, 2000–2014
Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1—a consensus overview
Malignant Peripheral Nerve Sheath Tumors State of the Science: Leveraging Clinical and Biological Insights into Effective Therapies