MEDICAL SERVICES

EDUCATION

Medical School

  • McGill University , Montreal , Quebec, Canada

Residency

Pediatrics
  • University of Massachusetts Medical Center , Worcester , MA

Fellowship

Genetics
  • National Birth Defects Center , Waltham , MA

PUBLICATIONS

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  1. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. Am J Med Genet A. 2021 06; 185(6):1649-1665. View abstract
  2. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. Genet Med. 2021 04; 23(4):740-750. View abstract
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. Am J Hum Genet. 2018 11 01; 103(5):752-768. View abstract
  9. An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery. NPJ Genom Med. 2018; 3:21. View abstract
  10. Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery. Hum Mutat. 2018 08; 39(8):1126-1138. View abstract
  11. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov 02; 101(5):768-788. View abstract
  12. Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. J Clin Endocrinol Metab. 2017 Feb 01; 102(2):460-469. View abstract
  13. Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy. Am J Hum Genet. 2016 Dec 01; 99(6):1368-1376. View abstract
  14. Is one diagnosis the whole story? patients with double diagnoses. . 2016 09; 170(9):2338-48. View abstract
  15. In memory of Murray Feingold (1930-2015). . 2016 Jul; 170(7):1727-31. View abstract
  16. De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features. Cold Spring Harb Mol Case Stud. 2016 Jan; 2(1):a000661. View abstract
  17. Recognition and prevention of child abuse in the child with disability. Am J Med Genet C Semin Med Genet. 2015 Dec; 169(4):293-301. View abstract
  18. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J Med Genet. 2010 May; 47(5):299-311. View abstract
  19. Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management. Genet Med. 2008 Jul; 10(7):469-94. View abstract
  20. The phakomatoses: dermatologic clues to neurologic anomalies. Semin Pediatr Neurol. 2007 Sep; 14(3):140-9. View abstract
  21. Genetics and hearing loss: a review of Stickler syndrome. J Commun Disord. 1998 Sep-Oct; 31(5):437-53; 453-4. View abstract