Area of research
Surgery · Genetics
Research interest
Research interests include Scoliosis diagnosis and treatment, Spinal Fractures and Fixation Techniques, Vascular Malformations and Hemangiomas, and Genomics and Rare Diseases.
The Somatic Mosaicism across Human Tissues Network
Somatic epimutations cap genetic determinism in the human diploid chromatin epigenome
Perioperative Blood Pressure Management for Patients Undergoing Spinal Fusion for Pediatric Spinal Deformity
Targeted long-read sequencing identifies missing disease-causing variation
A dyadic approach to the delineation of diagnostic entities in clinical genomics
Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
Redefining the Etiologic Landscape of Cerebellar Malformations
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly
A comprehensive review of the diagnosis and management of congenital scoliosis
Evaluation and management of adolescent idiopathic scoliosis: a review
Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA
The role of propriospinal neurons in the recovery of posture after spinal cord injury
The role of propriospinal neurons in the recovery of posture after spinal cord injury
The role of propriospinal neurons in the recovery of posture after spinal cord injury
The role of propriospinal neurons in the recovery of posture after spinal cord injury
'Mosaicism in Human Tissues, from Telomere to Telomere to RFA-22-013: "Somatic Mosaicism across Human Tissues Program: Genome Characterization Centers."
'Mosaicism in Human Tissues, from Telomere to Telomere to RFA-22-013: "Somatic Mosaicism across Human Tissues Program: Genome Characterization Centers."
'Mosaicism in Human Tissues, from Telomere to Telomere to RFA-22-013: "Somatic Mosaicism across Human Tissues Program: Genome Characterization Centers."
'Mosaicism in Human Tissues, from Telomere to Telomere to RFA-22-013: "Somatic Mosaicism across Human Tissues Program: Genome Characterization Centers."
Somatic Mosaicism across Human Tissues Program: Genome Characterization Centers (GCC SMaHT)
Mosaic: post-zygotic mutations in vascular malformations
Mosaic: post-zygotic mutations in vascular malformations
Mosaic: post-zygotic mutations in vascular malformations
Mosaic: post-zygotic mutations in vascular malformations
Mosaic: post-zygotic mutations in vascular malformations
DIFFERING NEURONAL MECHANISMS MEDIATING LOCOMOTION AND SPASMS AFTER SPINAL CORD INJURY
DIFFERING NEURONAL MECHANISMS MEDIATING LOCOMOTION AND SPASMS AFTER SPINAL CORD INJURY
DIFFERING NEURONAL MECHANISMS MEDIATING LOCOMOTION AND SPASMS AFTER SPINAL CORD INJURY
Negotiated Formal Agreements and International Relations
Doctoral Dissertation Research in Political Science
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