MEDICAL SERVICES

Departments

Languages

  • English

EDUCATION

Medical School

  • University of Toledo , 2010 , Toledo , OH

Residency

  • Wake Forest Baptist Medical Center , 2013 , Winston-Salem , NC

Fellowship

Clinical Genetics
  • Harvard Medical School Genetics Training Program , 2016 , Boston , MA

Fellowship

Medical Biochemical
  • Harvard Medical School Genetics Training Program , 2017 , Boston , MA

CERTIFICATIONS

  • American Board of Medical Genetics and Genomics, Clinical Genetics
  • American Board of Pediatrics, General Pediatrics

PUBLICATIONS

Publications powered by Harvard Catalyst Profiles

  1. A novel variant in the TSPAN12 gene-presenting as unilateral myopia, pediatric cataract, and heterochromia in a patient with familial exudative vitreoretinopathy. Eur J Ophthalmol. 2021 Jun 20; 11206721211027415. View abstract
  2. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome Med. 2021 May 21; 13(1):90. View abstract
  3. Graves' disease in a five-month-old boy with an unusual treatment course. J Pediatr Endocrinol Metab. 2021 Mar 26; 34(3):401-406. View abstract
  4. Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. Eur J Hum Genet. 2021 Mar; 29(3):411-421. View abstract
  5. Imprinted genes in clinical exome sequencing: Review of 538 cases and exploration of mouse-human conservation in the identification of novel human disease loci. Eur J Med Genet. 2020 Jun; 63(6):103903. View abstract
  6. Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study. Mol Genet Metab. 2019 12; 128(4):415-421. View abstract
  7. 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
  8. Updates in Newborn Screening. Pediatr Ann. 2018 May 01; 47(5):e187-e190. View abstract
  9. Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox. J Pediatr. 2018 07; 198:313-316. View abstract
  10. Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female. JIMD Rep. 2018; 40:17-22. View abstract
  11. Confounding factors in identification of disease-resilient individuals. Nat Biotechnol. 2016 11 08; 34(11):1103-1104. View abstract
  12. Hyperphenylalaninemia and the genomic revolution. Mol Genet Metab. 2015 Mar; 114(3):380-1. View abstract