Current Environment: Production

Medical Services

Programs & Services

Languages

  • English

Education

Undergraduate School

Stanford University

1996, Stanford, CA

Graduate School

PhD, Molecular Cell Biology

Rockefeller University

2003, New York, NY

Medical School

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.

Publications

  1. Cellular hierarchies of embryonal tumors with multilayered rosettes are shaped by oncogenic microRNAs and receptor-ligand interactions. Nat Cancer. 2025 May 26. View Abstract

  2. Globally Reduced Brain Volume in Rett Syndrome. Pediatr Neurol. 2025 Apr 22; 168:60-66. View Abstract

  3. Neuroimaging in Children With Inherited Metabolic Epilepsies. Neurology. 2025 Apr 22; 104(8):e213485. View Abstract

  4. Abolition of Aorticorenal Ganglia Pacing Responses Improves Denervation Efficacy. Hypertension. 2025 Apr; 82(4):680-689. View Abstract

  5. Rapid, High-resolution and Distortion-free R2* Mapping of Fetal Brain using Multi-echo Radial FLASH and Model-based Reconstruction. ArXiv. 2025 Jan 07. View Abstract

  6. Implications of the choroid plexus in Niemann-Pick disease Type C neuropathogenesis. Brain Behav Immun. 2025 Feb; 124:376-384. View Abstract

  7. Systemically injected oxygen within rapidly dissolving microbubbles improves the outcomes of severe hypoxaemia in swine. Nat Biomed Eng. 2024 11; 8(11):1396-1411. View Abstract

  8. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. Genet Med. 2025 Apr; 27(4):101216. View Abstract

  9. Response to Horta et al. Genet Med. 2024 Nov; 26(11):101215. View Abstract

  10. Automatic cortical surface parcellation in the fetal brain using attention-gated spherical U-net. Front Neurosci. 2024; 18:1410936. View Abstract

  11. 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. Pediatr Blood Cancer. 2024 Jun; 71(6):e30978. View Abstract

  12. Divergent growth of the transient brain compartments in fetuses with nonsyndromic isolated clefts involving the primary and secondary palate. Cereb Cortex. 2024 01 31; 34(2). View Abstract

  13. Glymphatic dysfunction coincides with lower GABA levels and sleep disturbances in succinic semialdehyde dehydrogenase deficiency. J Sleep Res. 2024 Aug; 33(4):e14105. View Abstract

  14. Characterization of central manifestations in patients with Niemann-Pick disease type C. Genet Med. 2024 03; 26(3):101053. View Abstract

  15. A Pilot Study Omitting Radiation in the Treatment of Children with Newly Diagnosed Wnt-Activated Medulloblastoma. Clin Cancer Res. 2023 12 15; 29(24):5031-5037. View Abstract

  16. Epilepsy surgery as a treatment option for select patients with PCDH19-related epilepsy. Epilepsy Behav. 2023 Dec; 149:109517. View Abstract

  17. Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy. Nat Genet. 2023 Nov; 55(11):1920-1928. View Abstract

  18. Atypical fetal brain development in fetuses with non-syndromic isolated musculoskeletal birth defects (niMSBDs). Cereb Cortex. 2023 10 14; 33(21):10793-10801. View Abstract

  19. Non-vascular intracranial lesions in three children with PHACE association. Pediatr Dermatol. 2024 Mar-Apr; 41(2):284-288. View Abstract

  20. Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria. JAMA Neurol. 2023 09 01; 80(9):980-988. View Abstract

  21. Amplitude-Integrated Electroencephalography Evolution and Magnetic Resonance Imaging Injury in Mild and Moderate to Severe Neonatal Encephalopathy. Am J Perinatol. 2024 05; 41(S 01):e2463-e2473. View Abstract

  22. Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. JAMA Neurol. 2023 06 01; 80(6):578-587. View Abstract

  23. The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15. Brain. 2023 05 02; 146(5):2003-2015. View Abstract

  24. Abnormal prenatal brain development in Chiari II malformation. Front Neuroanat. 2023; 17:1116948. View Abstract

  25. Differences between early and late MRI in infants with neonatal encephalopathy following therapeutic hypothermia. Pediatr Res. 2023 09; 94(3):1011-1017. View Abstract

  26. A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay. Clin Genet. 2023 07; 104(1):73-80. View Abstract

  27. Abnormal development of transient fetal zones in mild isolated fetal ventriculomegaly. Cereb Cortex. 2023 02 07; 33(4):1130-1139. View Abstract

  28. Proceedings of the 14th International Newborn Brain Conference: Neuro-imaging studies. J Neonatal Perinatal Med. 2023; 16(s1):S75-S101. View Abstract

  29. Magnetic resonance imaging in neonates: a practical approach to optimize image quality and increase diagnostic yield. Pediatr Radiol. 2023 Jun; 53(7):1300-1313. View Abstract

  30. Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene. Neurology. 2023 01 31; 100(5):e528-e542. View Abstract

  31. Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. Dev Cell. 2022 10 24; 57(20):2381-2396.e13. View Abstract

  32. Somatic variants in diverse genes leads to a spectrum of focal cortical malformations. Brain. 2022 08 27; 145(8):2704-2720. View Abstract

  33. Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder. JIMD Rep. 2022 Sep; 63(5):391-399. View Abstract

  34. The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2. Genet Med. 2022 11; 24(11):2240-2248. View Abstract

  35. Magnetic resonance venography to evaluate cerebral sinovenous thrombosis in infants receiving therapeutic hypothermia. Pediatr Res. 2023 03; 93(4):985-989. View Abstract

  36. Limited utility of structural MRI to identify the epileptogenic zone in young children with tuberous sclerosis. J Neuroimaging. 2022 09; 32(5):991-1000. View Abstract

  37. Brain Injury in Fetuses with Vein of Galen Malformation and Nongalenic Arteriovenous Fistulas: Static Snapshot or a Portent of More? AJNR Am J Neuroradiol. 2022 07; 43(7):1036-1041. View Abstract

  38. Clinical experience with an in-NICU magnetic resonance imaging system. J Perinatol. 2022 07; 42(7):873-879. View Abstract

  39. Proceedings of the 13th International Newborn Brain Conference: Neuro-imaging studies. J Neonatal Perinatal Med. 2022; 15(2):389-409. View Abstract

  40. Targeting neurological abnormalities in lysosomal storage diseases. Trends Pharmacol Sci. 2022 06; 43(6):495-509. View Abstract

  41. Differences in standardized neonatal encephalopathy exam criteria may impact therapeutic hypothermia eligibility. Pediatr Res. 2022 09; 92(3):791-798. View Abstract

  42. Harlequin Syndrome, Apnea, and Acute on Chronic Hemiparesis: An Atypical Pediatric Case of Chiari I With Holocord Syringohydromyelia. Pediatr Neurol. 2022 01; 126:108-109. View Abstract

  43. Value of cranial ultrasound at initiation of therapeutic hypothermia for neonatal encephalopathy. J Perinatol. 2022 Mar; 42(3):335-340. View Abstract

  44. High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia. Brain Commun. 2021; 3(4):fcab221. View Abstract

  45. Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia. Neurology. 2021 11 09; 97(19):e1942-e1954. View Abstract

  46. Comparison of numerical and standard sarnat grading using the NICHD and SIBEN methods. J Perinatol. 2022 03; 42(3):328-334. View Abstract

  47. Blood gas measures as predictors for neonatal encephalopathy severity. J Perinatol. 2021 09; 41(9):2261-2269. View Abstract

  48. Convolutional neural networks to identify malformations of cortical development: A feasibility study. Seizure. 2021 Oct; 91:81-90. View Abstract

  49. Interobserver Reliability of an MR Imaging Scoring System in Infants with Hypoxic-Ischemic Encephalopathy. AJNR Am J Neuroradiol. 2021 05; 42(5):969-974. View Abstract

  50. Intracranial Traumatic Hematoma Detection in Children Using a Portable Near-infrared Spectroscopy Device. West J Emerg Med. 2021 Mar 24; 22(3):782-791. View Abstract

  51. Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency. J Child Neurol. 2021 11; 36(13-14):1162-1168. View Abstract

  52. A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. Genet Med. 2021 06; 23(6):1158-1162. View Abstract

  53. Association between cerebral oxygen saturation and brain injury in neonates receiving therapeutic hypothermia for neonatal encephalopathy. J Perinatol. 2021 02; 41(2):269-277. View Abstract

  54. Hippocampal Involvement With Vigabatrin-Related MRI Signal Abnormalities in Patients With Infantile Spasms: A Novel Finding. J Child Neurol. 2021 06; 36(7):575-582. View Abstract

  55. Characterization of the GABRB2-Associated Neurodevelopmental Disorders. Ann Neurol. 2021 03; 89(3):573-586. View Abstract

  56. Fetal magnetic resonance imaging: supratentorial brain malformations. Pediatr Radiol. 2020 12; 50(13):1934-1947. View Abstract

  57. Regional Brain Growth Trajectories in Fetuses with Congenital Heart Disease. Ann Neurol. 2021 01; 89(1):143-157. View Abstract

  58. Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol. 2020 12; 88(6):1153-1164. View Abstract

  59. Success of Nonsedated Neuroradiologic MRI in Children 1-7 Years Old. AJR Am J Roentgenol. 2021 05; 216(5):1370-1377. View Abstract

  60. Association of Isolated Congenital Heart Disease with Fetal Brain Maturation. AJNR Am J Neuroradiol. 2020 08; 41(8):1525-1531. View Abstract

  61. Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex. PLoS One. 2020; 15(4):e0232376. View Abstract

  62. First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants. Clin Genet. 2020 05; 97(5):793-794. View Abstract

  63. Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5. Neuron. 2020 04 22; 106(2):246-255.e6. View Abstract

  64. Prenatal diagnosis of intraconal lymphatic malformation on fetal magnetic resonance imaging. J AAPOS. 2020 04; 24(2):113-115. View Abstract

  65. Loss of vacuolar acidity results in iron-sulfur cluster defects and divergent homeostatic responses during aging in Saccharomyces cerevisiae. Geroscience. 2020 04; 42(2):749-764. View Abstract

  66. Diagnostic equivalency of fast T2 and FLAIR sequences for pediatric brain MRI: a pilot study. Pediatr Radiol. 2020 04; 50(4):550-559. View Abstract

  67. Holoprosencephaly in Kabuki syndrome. Am J Med Genet A. 2020 03; 182(3):441-445. View Abstract

  68. VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation. Cold Spring Harb Mol Case Stud. 2019 12; 5(6). View Abstract

  69. Serial vessel wall MR imaging of pediatric tuberculous vasculitis. Neurol Clin Pract. 2019 Dec; 9(6):459-461. View Abstract

  70. Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. Am J Hum Genet. 2019 11 07; 105(5):1048-1056. View Abstract

  71. Fetal Echoplanar Imaging: Promises and Challenges. Top Magn Reson Imaging. 2019 Oct; 28(5):245-254. View Abstract

  72. VAC14 Gene-Related Parkinsonism-Dystonia With Response to Deep Brain Stimulation. Mov Disord Clin Pract. 2019 Jul; 6(6):494-497. View Abstract

  73. A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency. JIMD Rep. 2019 Jul; 48(1):26-35. View Abstract

  74. Perioperatively Inhaled Hydrogen Gas Diminishes Neurologic Injury Following Experimental Circulatory Arrest in Swine. JACC Basic Transl Sci. 2019 Apr; 4(2):176-187. View Abstract

  75. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia. 2019 03; 60(3):406-418. View Abstract

  76. Craniometric Analysis of Endoscopic Suturectomy for Bilateral Coronal Craniosynostosis. Plast Reconstr Surg. 2019 01; 143(1):183-196. View Abstract

  77. Automatic labeling of cortical sulci for the human fetal brain based on spatio-temporal information of gyrification. Neuroimage. 2019 03; 188:473-482. View Abstract

  78. Fetal brain growth portrayed by a spatiotemporal diffusion tensor MRI atlas computed from in utero images. Neuroimage. 2019 01 15; 185:593-608. View Abstract

  79. The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles. Cell Rep. 2018 07 24; 24(4):973-986.e8. View Abstract

  80. 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. Mol Genet Metab. 2018 09; 125(1-2):118-126. View Abstract

  81. De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. Mol Genet Metab Rep. 2018 Sep; 16:23-29. View Abstract

  82. Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. Ann Neurol. 2018 06; 83(6):1133-1146. View Abstract

  83. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Am J Hum Genet. 2018 05 03; 102(5):995-1007. View Abstract

  84. Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies. Mol Genet Metab. 2018 06; 124(2):161-167. View Abstract

  85. Fetal Neuropathology in Zika Virus-Infected Pregnant Female Rhesus Monkeys. Cell. 2018 05 17; 173(5):1111-1122.e10. View Abstract

  86. Transient regional cerebral hypoperfusion during a paroxysmal hemiplegic event in GLUT1 deficiency syndrome. Eur J Paediatr Neurol. 2018 May; 22(3):544-547. View Abstract

  87. Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. Cell Rep. 2017 12 26; 21(13):3754-3766. View Abstract

  88. Imaging features and prognostic factors in fetal and postnatal torcular dural sinus malformations, part II: synthesis of the literature and patient management. J Neurointerv Surg. 2018 May; 10(5):471-475. View Abstract

  89. Imaging features and prognostic factors in fetal and postnatal torcular dural sinus malformations, part I: review of experience at Boston Children's Hospital. J Neurointerv Surg. 2018 May; 10(5):467-470. View Abstract

  90. Hypochondroplasia and epilepsy: temporal lobe dysgenesis in FGFR3 mutations. Journal of International Child Neurology Association. 2017; 1(1). View Abstract

  91. Clinical targeted exome-based sequencing in combination with genome-wide copy number profiling: precision medicine analysis of 203 pediatric brain tumors. Neuro Oncol. 2017 Jul 01; 19(7):986-996. View Abstract

  92. A Practical Approach to Supratentorial Brain Malformations: What Radiologists Should Know. Radiol Clin North Am. 2017 Jul; 55(4):609-627. View Abstract

  93. Brain involvement in Charcot-Marie-Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutation. Neuromuscul Disord. 2017 Sep; 27(9):848-851. View Abstract

  94. Quantitative Folding Pattern Analysis of Early Primary Sulci in Human Fetuses with Brain Abnormalities. AJNR Am J Neuroradiol. 2017 Jul; 38(7):1449-1455. View Abstract

  95. The Frequency and Severity of Magnetic Resonance Imaging Abnormalities in Infants with Mild Neonatal Encephalopathy. J Pediatr. 2017 08; 187:26-33.e1. View Abstract

  96. Temporal slice registration and robust diffusion-tensor reconstruction for improved fetal brain structural connectivity analysis. Neuroimage. 2017 08 01; 156:475-488. View Abstract

  97. A normative spatiotemporal MRI atlas of the fetal brain for automatic segmentation and analysis of early brain growth. Sci Rep. 2017 03 28; 7(1):476. View Abstract

  98. Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Ann Neurol. 2017 Mar; 81(3):419-429. View Abstract

  99. White Matter Injury and General Movements in High-Risk Preterm Infants. AJNR Am J Neuroradiol. 2017 Jan; 38(1):162-169. View Abstract

  100. De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. J Child Neurol. 2017 01; 32(1):127-131. View Abstract

  101. Relationship between white matter pathology and performance on the General Movement Assessment and the Test of Infant Motor Performance in very preterm infants. Early Hum Dev. 2016 Apr; 95:23-7. View Abstract

  102. Pediatric Emergency Magnetic Resonance Imaging: Current Indications, Techniques, and Clinical Applications. Magn Reson Imaging Clin N Am. 2016 May; 24(2):449-80. View Abstract

  103. TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. Am J Hum Genet. 2015 Dec 03; 97(6):922-32. View Abstract

  104. Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. Am J Med Genet A. 2016 Feb; 170A(2):435-440. View Abstract

  105. Variation of the slope of the tentorium during childhood. Childs Nerv Syst. 2016 Mar; 32(3):441-50. View Abstract

  106. A pediatric soft palate mass. Pleomorphic adenoma. JAMA Otolaryngol Head Neck Surg. 2015 Apr; 141(4):391-2. View Abstract

  107. Imaging manifestations of the leukodystrophies, inherited disorders of white matter. Radiol Clin North Am. 2014 Mar; 52(2):279-319. View Abstract

  108. Classic neuroimaging findings of nonketotic hyperglycemia on computed tomography and magnetic resonance imaging with absence of typical movement disorder symptoms (hemichorea-hemiballism). J Radiol Case Rep. 2013 Aug; 7(8):1-9. View Abstract

  109. Surgical versus nonsurgical treatment of the SE4-equivalent ankle fracture: a retrospective functional outcome study. Orthopedics. 2011 Apr 11; 34(4). View Abstract

  110. Diffusion MR imaging: basic principles. Neuroimaging Clin N Am. 2011 Feb; 21(1):1-25, vii. View Abstract

  111. Recruitment of Stat1 to chromatin is required for interferon-induced serine phosphorylation of Stat1 transactivation domain. Proc Natl Acad Sci U S A. 2008 Jul 01; 105(26):8944-9. View Abstract

  112. Neuroimaging, genetics and the treatment of nicotine addiction. Behav Brain Res. 2008 Nov 21; 193(2):159-69. View Abstract

  113. Early Mycoplasma pneumoniae infection presenting as multiple pulmonary masses: an unusual presentation in a child. Pediatr Radiol. 2008 Apr; 38(4):477-80. View Abstract

  114. Distinct transcriptional activation functions of STAT1alpha and STAT1beta on DNA and chromatin templates. J Biol Chem. 2003 Oct 31; 278(44):43067-73. View Abstract

  115. Decay rates of human mRNAs: correlation with functional characteristics and sequence attributes. Genome Res. 2003 Aug; 13(8):1863-72. View Abstract

  116. Independent and cooperative activation of chromosomal c-fos promoter by STAT3. J Biol Chem. 2003 May 02; 278(18):15794-9. View Abstract

  117. Dissociation time from DNA determines transcriptional function in a STAT1 linker mutant. J Biol Chem. 2002 Apr 19; 277(16):13455-62. View Abstract

  118. The linker domain of Stat1 is required for gamma interferon-driven transcription. Mol Cell Biol. 1999 Jul; 19(7):5106-12. View Abstract

  119. IL-4 selectively inhibits IL-2-triggered Stat5 activation, but not proliferation, in human T cells. J Immunol. 1999 Feb 01; 162(3):1261-9. View Abstract

  120. A convenient synthetic entry into aldehydes with extended conjugation. Tetrahedron. 1997; 53:2717-2730.

  121. Large first hyperpolarizabilities of push pull polyenes with strong acceptors . Nonlinear Optics. 1995; 9:213-221.

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.

BESbswy
BESbswy