Medical School

  • University of Toronto , 2008 , Toronto , Ontario, Canada


  • University of Toronto , 2013 , Toronto , Ontario, Canada


  • Harvard Medical School , 2016 , Boston , MA


  • American Board of Medical Genetics and Genomics, Clinical Genetics
  • American Board of Medical Genetics and Genomics, Medical Biochemical Genetics


Publications powered by Harvard Catalyst Profiles

  1. O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. J Med Genet. 2021 Jul 28. View abstract
  2. Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy. Ann Neurol. 2021 Aug; 90(2):274-284. View abstract
  3. CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. Clin Genet. 2021 Oct; 100(4):468-477. View abstract
  4. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 Jun 23. View abstract
  5. De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. Am J Med Genet A. 2021 08; 185(8):2384-2390. View abstract
  6. Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs. Hum Mol Genet. 2021 04 26; 30(3-4):135-148. View abstract
  7. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genet Med. 2021 06; 23(6):1028-1040. View abstract
  8. Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nat Genet. 2021 Mar; 53(3):412. View abstract
  9. Medulloblastoma in the setting of megalencephaly polymicrogyria polydactyly hydrocephalus. Am J Med Genet A. 2021 05; 185(5):1614-1618. View abstract
  10. RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. Mol Psychiatry. 2021 05; 26(5):1706-1718. View abstract
  11. Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis. Eur J Hum Genet. 2021 Jun; 29(6):998-1007. View abstract
  12. Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings. Ann Clin Transl Neurol. 2021 03; 8(3):716-722. View abstract
  13. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. Epilepsia. 2021 01; 62(1):e13-e21. View abstract
  14. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 12 03; 107(6):1096-1112. View abstract
  15. Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. Am J Hum Genet. 2020 12 03; 107(6):1170-1177. View abstract
  16. Homozygous deletion of 21q22.2 in a patient with hypotonia, developmental delay, cortical visual impairment, and retinopathy. Am J Med Genet A. 2021 02; 185(2):555-560. View abstract
  17. Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder. Clin Genet. 2020 12; 98(6):571-576. View abstract
  18. Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol. 2020 12; 88(6):1153-1164. View abstract
  19. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nat Genet. 2020 10; 52(10):1046-1056. View abstract
  20. L-arginine effects on cerebrovascular reactivity, perfusion and neurovascular coupling in MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) syndrome. PLoS One. 2020; 15(9):e0238224. View abstract
  21. The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification. J Hum Genet. 2020 Nov; 65(11):1003-1017. View abstract
  22. Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):147-154. View abstract
  23. Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy. Am J Hum Genet. 2020 04 02; 106(4):484-495. View abstract
  24. Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus. Genet Med. 2020 06; 22(6):1061-1068. View abstract
  25. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. Nat Commun. 2020 01 30; 11(1):595. View abstract
  26. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genet Med. 2020 03; 22(3):538-546. View abstract
  27. Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. Am J Med Genet A. 2020 01; 182(1):189-194. View abstract
  28. VAC14 Gene-Related Parkinsonism-Dystonia With Response to Deep Brain Stimulation. Mov Disord Clin Pract. 2019 Jul; 6(6):494-497. View abstract
  29. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am J Hum Genet. 2019 06 06; 104(6):1210-1222. View abstract
  30. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2019 May 02; 10(1):2079. View abstract
  31. Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures. Brain. 2019 05 01; 142(5):e15. View abstract
  32. Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism. Ann Neurol. 2019 06; 85(6):921-926. View abstract
  33. Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genet Med. 2019 09; 21(9):2043-2058. View abstract
  34. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2019 Mar 07; 104(3):562. View abstract
  35. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2019 02 15; 10(1):883. View abstract
  36. Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities. . 2018 12; 176(12):2554-2560. View abstract
  37. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2018 11 05; 9(1):4619. View abstract
  38. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2018 11 01; 103(5):666-678. View abstract
  39. 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
  40. Acute Illness Protocol for Urea Cycle Disorders. Pediatr Emerg Care. 2018 Jun; 34(6):e115-e119. View abstract
  41. Serine Deficiency in a Child with Neurological Presentation, Hearing Loss, and Multiple Congenital Anomalies. Clin Chem. 2018 05; 64(5):870-872. View abstract
  42. Recessive mutations in VPS13D cause childhood onset movement disorders. Ann Neurol. 2018 06; 83(6):1089-1095. View abstract
  43. 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
  44. 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
  45. Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia. 2018 02; 59(2):389-402. View abstract
  46. Acute Illness Protocol for Maple Syrup Urine Disease. Pediatr Emerg Care. 2018 Jan; 34(1):64-67. View abstract
  47. Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. Mol Genet Metab. 2018 03; 123(3):317-325. View abstract
  48. The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. Mov Disord Clin Pract. 2018 Mar-Apr; 5(2):149-155. View abstract
  49. Ethylmalonic Aciduria in an Infant with Neurological and Skin Presentation. Clin Chem. 2017 11; 63(11):1771-1773. View abstract
  50. Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female. JIMD Rep. 2018; 40:17-22. View abstract
  51. Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. JIMD Rep. 2018; 39:45-54. View abstract
  52. Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency. Pediatr Neurol. 2017 Nov; 76:47-53. View abstract
  53. Raised Anion Gap Metabolic Acidosis in a 4-Day-Old Child. Clin Chem. 2017 06; 63(6):1171-1173. View abstract
  54. Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders. Pediatr Emerg Care. 2017 Apr; 33(4):296-301. View abstract
  55. Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. Pediatr Emerg Care. 2017 Feb; 33(2):142-146. View abstract
  56. A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. Eur J Hum Genet. 2016 12; 24(12):1833. View abstract
  57. De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. J Child Neurol. 2017 01; 32(1):127-131. View abstract
  58. A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. Eur J Hum Genet. 2016 12; 24(12):1826-1827. View abstract
  59. A 10-Month-Old With Intermittent Hypotonia and Paralysis. Pediatrics. 2016 07; 138(1). View abstract
  60. Now You See It, Now You Don't: Unidentified Plasma Amino Acid Peak. Clin Chem. 2016 05; 62(5):781-2. View abstract
  61. N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels. JIMD Rep. 2017; 31:73-77. View abstract
  62. Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series. J Child Neurol. 2016 07; 31(8):1027-35. View abstract
  63. Expansion of phenotype and genotypic data in CRB2-related syndrome. Eur J Hum Genet. 2016 10; 24(10):1436-44. View abstract
  64. Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome. Neurol Genet. 2016 Feb; 2(1):e43. View abstract
  65. De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay. Cold Spring Harb Mol Case Stud. 2015 Oct; 1(1):a000562. View abstract
  66. Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Neurogenetics. 2016 Jan; 17(1):11-6. View abstract
  67. Clinical Use of CSF Neurotransmitters. Pediatr Neurol. 2015 Oct; 53(4):277-86. View abstract
  68. L-Arginine Affects Aerobic Capacity and Muscle Metabolism in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes) Syndrome. PLoS One. 2015; 10(5):e0127066. View abstract
  69. Cerebral hyperperfusion and decreased cerebrovascular reactivity correlate with neurologic disease severity in MELAS. Mitochondrion. 2015 May; 22:66-74. View abstract
  70. Clinical reasoning: a case of abnormal eye movements in an infant: more than meets the eye. Neurology. 2013 Oct 08; 81(15):e112-5. View abstract
  71. Anti-glutamic Acid decarboxylase antibody associated limbic encephalitis in a child: expanding the spectrum of pediatric inflammatory brain diseases. J Child Neurol. 2014 May; 29(5):677-83. View abstract
  72. MR spectroscopy in pediatric Wernicke encephalopathy. Neurology. 2013 Mar 05; 80(10):969. View abstract
  73. Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency. JIMD Rep. 2013; 11:7-11. View abstract
  74. Reversible splenial lesion syndrome in pediatric systemic lupus erythematosus. J Rheumatol. 2012 Aug; 39(8):1698-9. View abstract
  75. Clinical reasoning: encephalopathy in a 10-year-old boy. Neurology. 2012 Jul 17; 79(3):e12-8. View abstract
  76. Stroke recurrence in children with congenital heart disease. Ann Neurol. 2012 Jul; 72(1):103-11. View abstract
  77. A citywide prehospital protocol increases access to stroke thrombolysis in Toronto. Stroke. 2009 Dec; 40(12):3841-4. View abstract
  78. Seizures during stroke thrombolysis heralding dramatic neurologic recovery. Neurology. 2006 Dec 12; 67(11):2048-9. View abstract