Weill Cornell Medical College of Cornell University
2004
New York
NY
Internship
Internal Medicine
Brigham & Women's Hospital
2005
Bosotn
MA
Residency
Diagnostic Radiology
Hospital of the University of Pennsylvania
2009
Philadelphia
PA
Fellowship
Neuroradiology
Hospital of the University of Pennsylvania
2010
Philadelphia
PA
Fellowship
Pediatric Neuroradiology
Children's Hospital of Philadelphia
2011
Philadelphia
PA
Certifications
American Board of Radiology (Diagnostic Radiology)
American Board of Radiology (Neuroradiology)
Professional History
Dr. Yang obtained a B.S. in Chemistry from Stanford University in 1996. He subsequently enrolled in the Medical Scientist Training Program at the Cornell/Rockefeller/Sloan-Kettering Tri-Institutional MD-PhD Program in New York, obtaining a Ph.D. in Molecular Cell Biology from Rockefeller University in 2003 and a M.D. from Cornell University in 2004. After completing a medical internship at Brigham & Women’s Hospital in 2005, he completed a residency in Diagnostic Radiology (2009) and a fellowship in Neuroradiology (2010) at the Hospital of the University of Pennsylvania. Following an additional fellowship in Pediatric Neuroradiology at The Children’s Hospital of Philadelphia, he served as Assistant Professor and Director of Pediatric Neuroradiology, University of Chicago Pritzker School of Medicine, Chicago, IL. He has been an Attending Neuroradiologist at Boston Children’s Hospital since 2013. He has a special interest in genetic conditions affecting the central nervous system and congenital brain malformations.
Approach to Care
I enjoy visual puzzles, thinking about the brain, and helping patients. So pediatric neuroradiology is the perfect field for me because I get to immerse myself in all three activities on a daily basis. It is a particular privilege to work here at Boston Children’s Hospital since we have the technology, resources, and collective clinical expertise to ensure that our patients obtain the highest quality care possible. Our hospital is also fortunate to see rare conditions in sufficient frequency that we can contribute to improved diagnosis, therapy, and overall understanding of a wide array of childhood diseases affecting the brain, spine, and head/neck.
Publications
Extensive Cerebellitis as a Key Neuroimaging Feature in a Child With MT-ATP6 Pathogenic Variant. View Abstract
The use of synaptic extracellular myo-inositol to treat Developmental and Epileptic Encephalopathy. View Abstract
Central Dysmyelination in SSADH-Deficient Humans and Mice. View Abstract
Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs. View Abstract
Variable Flip Angle Optimization for Fetal Brain Imaging With Reduced Specific Absorption Rate. View Abstract
Rapid, high-resolution and distortion-free R2* mapping of fetal brain using multi-echo radial FLASH and model-based reconstruction. View Abstract
Cellular hierarchies of embryonal tumors with multilayered rosettes are shaped by oncogenic microRNAs and receptor-ligand interactions. View Abstract
Globally Reduced Brain Volume in Rett Syndrome. View Abstract
Neuroimaging in Children With Inherited Metabolic Epilepsies. View Abstract
Rapid, High-resolution and Distortion-free R2* Mapping of Fetal Brain using Multi-echo Radial FLASH and Model-based Reconstruction. View Abstract
Implications of the choroid plexus in Niemann-Pick disease Type C neuropathogenesis. View Abstract
Systemically injected oxygen within rapidly dissolving microbubbles improves the outcomes of severe hypoxaemia in swine. View Abstract
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. View Abstract
Automatic cortical surface parcellation in the fetal brain using attention-gated spherical U-net. View Abstract
Activity of the MEK inhibitor trametinib in a patient with a BRAF mutation persisting from T-lymphoblastic lymphoma through lineage switch to CNS acute myeloid leukemia. View Abstract
Divergent growth of the transient brain compartments in fetuses with nonsyndromic isolated clefts involving the primary and secondary palate. View Abstract
Glymphatic dysfunction coincides with lower GABA levels and sleep disturbances in succinic semialdehyde dehydrogenase deficiency. View Abstract
Characterization of central manifestations in patients with Niemann-Pick disease type C. View Abstract
A Pilot Study Omitting Radiation in the Treatment of Children with Newly Diagnosed Wnt-Activated Medulloblastoma. View Abstract
Epilepsy surgery as a treatment option for select patients with PCDH19-related epilepsy. View Abstract
Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy. View Abstract
Atypical fetal brain development in fetuses with non-syndromic isolated musculoskeletal birth defects (niMSBDs). View Abstract
Non-vascular intracranial lesions in three children with PHACE association. View Abstract
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria. View Abstract
Amplitude-Integrated Electroencephalography Evolution and Magnetic Resonance Imaging Injury in Mild and Moderate to Severe Neonatal Encephalopathy. View Abstract
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. View Abstract
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15. View Abstract
Abnormal prenatal brain development in Chiari II malformation. View Abstract
Differences between early and late MRI in infants with neonatal encephalopathy following therapeutic hypothermia. View Abstract
A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay. View Abstract
Abnormal development of transient fetal zones in mild isolated fetal ventriculomegaly. View Abstract
Proceedings of the 14th International Newborn Brain Conference: Neuro-imaging studies. View Abstract
Magnetic resonance imaging in neonates: a practical approach to optimize image quality and increase diagnostic yield. View Abstract
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene. View Abstract
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. View Abstract
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations. View Abstract
Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder. View Abstract
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2. View Abstract
Magnetic resonance venography to evaluate cerebral sinovenous thrombosis in infants receiving therapeutic hypothermia. View Abstract
Limited utility of structural MRI to identify the epileptogenic zone in young children with tuberous sclerosis. View Abstract
Brain Injury in Fetuses with Vein of Galen Malformation and Nongalenic Arteriovenous Fistulas: Static Snapshot or a Portent of More? View Abstract
Clinical experience with an in-NICU magnetic resonance imaging system. View Abstract
Proceedings of the 13th International Newborn Brain Conference: Neuro-imaging studies. View Abstract
Targeting neurological abnormalities in lysosomal storage diseases. View Abstract
Differences in standardized neonatal encephalopathy exam criteria may impact therapeutic hypothermia eligibility. View Abstract
Harlequin Syndrome, Apnea, and Acute on Chronic Hemiparesis: An Atypical Pediatric Case of Chiari I With Holocord Syringohydromyelia. View Abstract
Value of cranial ultrasound at initiation of therapeutic hypothermia for neonatal encephalopathy. View Abstract
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia. View Abstract
Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia. View Abstract
Comparison of numerical and standard sarnat grading using the NICHD and SIBEN methods. View Abstract
Blood gas measures as predictors for neonatal encephalopathy severity. View Abstract
Convolutional neural networks to identify malformations of cortical development: A feasibility study. View Abstract
Interobserver Reliability of an MR Imaging Scoring System in Infants with Hypoxic-Ischemic Encephalopathy. View Abstract
Intracranial Traumatic Hematoma Detection in Children Using a Portable Near-infrared Spectroscopy Device. View Abstract
Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency. View Abstract
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. View Abstract
Association between cerebral oxygen saturation and brain injury in neonates receiving therapeutic hypothermia for neonatal encephalopathy. View Abstract
Hippocampal Involvement With Vigabatrin-Related MRI Signal Abnormalities in Patients With Infantile Spasms: A Novel Finding. View Abstract
Characterization of the GABRB2-Associated Neurodevelopmental Disorders. View Abstract
Fetal magnetic resonance imaging: supratentorial brain malformations. View Abstract
Regional Brain Growth Trajectories in Fetuses with Congenital Heart Disease. View Abstract
Polymicrogyria is Associated With Pathogenic Variants in PTEN. View Abstract
Success of Nonsedated Neuroradiologic MRI in Children 1-7 Years Old. View Abstract
Association of Isolated Congenital Heart Disease with Fetal Brain Maturation. View Abstract
Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex. View Abstract
First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants. View Abstract
Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5. View Abstract
Prenatal diagnosis of intraconal lymphatic malformation on fetal magnetic resonance imaging. View Abstract
Loss of vacuolar acidity results in iron-sulfur cluster defects and divergent homeostatic responses during aging in Saccharomyces cerevisiae. View Abstract
Diagnostic equivalency of fast T2 and FLAIR sequences for pediatric brain MRI: a pilot study. View Abstract
VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation. View Abstract
Serial vessel wall MR imaging of pediatric tuberculous vasculitis. View Abstract
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. View Abstract
Fetal Echoplanar Imaging: Promises and Challenges. View Abstract
VAC14 Gene-Related Parkinsonism-Dystonia With Response to Deep Brain Stimulation. View Abstract
A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency. View Abstract
Perioperatively Inhaled Hydrogen Gas Diminishes Neurologic Injury Following Experimental Circulatory Arrest in Swine. View Abstract
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. View Abstract
Craniometric Analysis of Endoscopic Suturectomy for Bilateral Coronal Craniosynostosis. View Abstract
Automatic labeling of cortical sulci for the human fetal brain based on spatio-temporal information of gyrification. View Abstract
Fetal brain growth portrayed by a spatiotemporal diffusion tensor MRI atlas computed from in utero images. View Abstract
The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles. View Abstract
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. View Abstract
De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. View Abstract
Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. View Abstract
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. View Abstract
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies. View Abstract
Transient regional cerebral hypoperfusion during a paroxysmal hemiplegic event in GLUT1 deficiency syndrome. View Abstract
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. View Abstract
Imaging features and prognostic factors in fetal and postnatal torcular dural sinus malformations, part II: synthesis of the literature and patient management. View Abstract
Imaging features and prognostic factors in fetal and postnatal torcular dural sinus malformations, part I: review of experience at Boston Children's Hospital. View Abstract
Hypochondroplasia and epilepsy: temporal lobe dysgenesis in FGFR3 mutations View Abstract
Clinical targeted exome-based sequencing in combination with genome-wide copy number profiling: precision medicine analysis of 203 pediatric brain tumors. View Abstract
A Practical Approach to Supratentorial Brain Malformations: What Radiologists Should Know. View Abstract
Brain involvement in Charcot-Marie-Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutation. View Abstract
Quantitative Folding Pattern Analysis of Early Primary Sulci in Human Fetuses with Brain Abnormalities. View Abstract
The Frequency and Severity of Magnetic Resonance Imaging Abnormalities in Infants with Mild Neonatal Encephalopathy. View Abstract
Temporal slice registration and robust diffusion-tensor reconstruction for improved fetal brain structural connectivity analysis. View Abstract
A normative spatiotemporal MRI atlas of the fetal brain for automatic segmentation and analysis of early brain growth. View Abstract
Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. View Abstract
White Matter Injury and General Movements in High-Risk Preterm Infants. View Abstract
De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. View Abstract
Relationship between white matter pathology and performance on the General Movement Assessment and the Test of Infant Motor Performance in very preterm infants. View Abstract
Pediatric Emergency Magnetic Resonance Imaging: Current Indications, Techniques, and Clinical Applications. View Abstract
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. View Abstract
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. View Abstract
Variation of the slope of the tentorium during childhood. View Abstract
A pediatric soft palate mass. Pleomorphic adenoma. View Abstract
Imaging manifestations of the leukodystrophies, inherited disorders of white matter. View Abstract
Classic neuroimaging findings of nonketotic hyperglycemia on computed tomography and magnetic resonance imaging with absence of typical movement disorder symptoms (hemichorea-hemiballism). View Abstract
Surgical versus nonsurgical treatment of the SE4-equivalent ankle fracture: a retrospective functional outcome study. View Abstract