MEDICAL SERVICES

EDUCATION

Undergraduate Degree

  • Stanford University , 1996 , Stanford , CA

Graduate Degree

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 , Boston , 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
  • The Children's Hospital of Philadelphia , 2011 , Philadelphia , PA

Philosophy of 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.

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.

CERTIFICATIONS

  • American Board of Radiology, Diagnostic Radiology
  • American Board of Radiology, Neuroradiology

PUBLICATIONS

Publications powered by Harvard Catalyst Profiles

  1. Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency. J Child Neurol. 2021 Feb 09; 883073821991295. View abstract
  2. A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. Genet Med. 2021 Feb 02. View abstract
  3. Hippocampal Involvement With Vigabatrin-Related MRI Signal Abnormalities in Patients With Infantile Spasms: A Novel Finding. J Child Neurol. 2021 Jan 12; 883073820985395. View abstract
  4. Characterization of the GABRB2-Associated Neurodevelopmental Disorders. Ann Neurol. 2021 Mar; 89(3):573-586. View abstract
  5. Fetal magnetic resonance imaging: supratentorial brain malformations. Pediatr Radiol. 2020 12; 50(13):1934-1947. View abstract
  6. Regional Brain Growth Trajectories in Fetuses with Congenital Heart Disease. Ann Neurol. 2021 01; 89(1):143-157. View abstract
  7. Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol. 2020 12; 88(6):1153-1164. View abstract
  8. Success of Non-sedated Neuroradiological MRI in Children 1 to 7 Years Old. AJR Am J Roentgenol. 2020 08 12. View abstract
  9. Association of Isolated Congenital Heart Disease with Fetal Brain Maturation. AJNR Am J Neuroradiol. 2020 08; 41(8):1525-1531. View abstract
  10. Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex. PLoS One. 2020; 15(4):e0232376. View abstract
  11. First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants. Clin Genet. 2020 05; 97(5):793-794. View abstract
  12. 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
  13. Prenatal diagnosis of intraconal lymphatic malformation on fetal magnetic resonance imaging. J AAPOS. 2020 04; 24(2):113-115. View abstract
  14. 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
  15. Holoprosencephaly in Kabuki syndrome. Am J Med Genet A. 2020 03; 182(3):441-445. View abstract
  16. 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
  17. Serial vessel wall MR imaging of pediatric tuberculous vasculitis. Neurol Clin Pract. 2019 Dec; 9(6):459-461. View abstract
  18. 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
  19. Fetal Echoplanar Imaging: Promises and Challenges. Top Magn Reson Imaging. 2019 Oct; 28(5):245-254. View abstract
  20. VAC14 Gene-Related Parkinsonism-Dystonia With Response to Deep Brain Stimulation. Mov Disord Clin Pract. 2019 Jul; 6(6):494-497. View abstract
  21. 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
  22. 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
  23. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia. 2019 03; 60(3):406-418. View abstract
  24. Craniometric Analysis of Endoscopic Suturectomy for Bilateral Coronal Craniosynostosis. Plast Reconstr Surg. 2019 01; 143(1):183-196. View abstract
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. Ann Neurol. 2018 06; 83(6):1133-1146. View abstract
  31. 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
  32. 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
  33. Fetal Neuropathology in Zika Virus-Infected Pregnant Female Rhesus Monkeys. Cell. 2018 05 17; 173(5):1111-1122.e10. View abstract
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. A Practical Approach to Supratentorial Brain Malformations: What Radiologists Should Know. Radiol Clin North Am. 2017 Jul; 55(4):609-627. View abstract
  40. 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
  41. 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
  42. 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
  43. Temporal slice registration and robust diffusion-tensor reconstruction for improved fetal brain structural connectivity analysis. Neuroimage. 2017 08 01; 156:475-488. View abstract
  44. 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
  45. Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Ann Neurol. 2017 Mar; 81(3):419-429. View abstract
  46. White Matter Injury and General Movements in High-Risk Preterm Infants. AJNR Am J Neuroradiol. 2017 Jan; 38(1):162-169. View abstract
  47. De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. J Child Neurol. 2017 01; 32(1):127-131. View abstract
  48. 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
  49. 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
  50. 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
  51. Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. . 2016 Feb; 170A(2):435-440. View abstract
  52. Variation of the slope of the tentorium during childhood. Childs Nerv Syst. 2016 Mar; 32(3):441-50. View abstract
  53. A pediatric soft palate mass. Pleomorphic adenoma. JAMA Otolaryngol Head Neck Surg. 2015 Apr; 141(4):391-2. View abstract
  54. Imaging manifestations of the leukodystrophies, inherited disorders of white matter. Radiol Clin North Am. 2014 Mar; 52(2):279-319. View abstract
  55. 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
  56. Diffusion MR imaging: basic principles. Neuroimaging Clin N Am. 2011 Feb; 21(1):1-25, vii. View abstract
  57. 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
  58. Neuroimaging, genetics and the treatment of nicotine addiction. Behav Brain Res. 2008 Nov 21; 193(2):159-69. View abstract
  59. 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
  60. 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
  61. Decay rates of human mRNAs: correlation with functional characteristics and sequence attributes. Genome Res. 2003 Aug; 13(8):1863-72. View abstract
  62. Independent and cooperative activation of chromosomal c-fos promoter by STAT3. J Biol Chem. 2003 May 02; 278(18):15794-9. View abstract
  63. Dissociation time from DNA determines transcriptional function in a STAT1 linker mutant. J Biol Chem. 2002 Apr 19; 277(16):13455-62. View abstract
  64. The linker domain of Stat1 is required for gamma interferon-driven transcription. Mol Cell Biol. 1999 Jul; 19(7):5106-12. View abstract
  65. 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
  66. A convenient synthetic entry into aldehydes with extended conjugation. Tetrahedron. 1997; 53:2717-2730. View abstract
  67. Large first hyperpolarizabilities of push pull polyenes with strong acceptors . Nonlinear Optics. 1995; 9:213-221. View abstract