Undergraduate Degree

  • Stanford University , 2006 , Stanford , CA

Graduate Degree

  • Baylor College of Medicine , 2013 , Houston , TX

Medical School

  • Baylor College of Medicine , 2014 , Houston , TX


  • Boston Combined Residency Program (BCRP) , 2016 , Boston , MA


  • Boston Combined Residency Program (BCRP) , 2020 , Boston , MA


Medical Genetics
  • Harvard Medical School Genetics Training Program , 2020 , Boston , MA

Philosophy of Care

I am a pediatrician specializing in medical genetics. At every clinic visit, I strive to provide an accurate diagnosis, up-to-date treatment, and clear communication for patients and families affected by genetic health problems. I see a broad range of patients, but also have special interests in rare disorders, medical mysteries, deletion and duplication syndromes, and Cornelia de Lange syndrome.


Dr. Boone holds an M.D. and Ph.D. in Molecular and Human Genetics from Baylor College of Medicine. He completed Pediatrics residency training at Boston Children's Hospital and Clinical Genetics fellowship training at Harvard Medical School. He is an author on over 25 publications about medical genetics. Dr. Boone is an attending physician in the Division of Genetics and Genomics at Boston Children's, as well as a research fellow in the Center for Genomic Medicine at Massachusetts General Hospital.


Publications powered by Harvard Catalyst Profiles

  1. Free, online videos for distance learning in medical genetics. Eur J Med Genet. 2020 Sep; 63(9):103983. View abstract
  2. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med. 2020 08; 22(8):1338-1347. View abstract
  3. Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. Am J Med Genet A. 2020 01; 182(1):189-194. View abstract
  4. The Genetics of Pneumothorax. Am J Respir Crit Care Med. 2019 06 01; 199(11):1344-1357. View abstract
  5. Genetic architecture of laterality defects revealed by whole exome sequencing. Eur J Hum Genet. 2019 04; 27(4):563-573. View abstract
  6. Familial pneumothorax: towards precision medicine. Thorax. 2018 03; 73(3):270-276. View abstract
  7. Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 02 28; 45(4):1633-1648. View abstract
  8. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245. View abstract
  9. Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation. . 2016 11; 170(11):3028-3032. View abstract
  10. Adolescents, Family History, and Inherited Disease Risk: An Opportunity. Pediatrics. 2016 08; 138(2). View abstract
  11. A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics. Genome Med. 2016 Feb 02; 8(1):13. View abstract
  12. Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Mol Genet Genomic Med. 2016 Jan; 4(1):77-94. View abstract
  13. Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing. Genom Data. 2014 Dec; 2:144-146. View abstract
  14. Analysis of the ABCA4 genomic locus in Stargardt disease. Hum Mol Genet. 2014 Dec 20; 23(25):6797-806. View abstract
  15. The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Am J Hum Genet. 2014 Aug 07; 95(2):143-61. View abstract
  16. Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med. 2014 May; 16(5):386-394. View abstract
  17. Detection of clinically relevant copy number variants with whole-exome sequencing. Hum Mutat. 2013 Oct; 34(10):1439-48. View abstract
  18. Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res. 2013 Sep; 23(9):1383-94. View abstract
  19. Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med. 2013 Jan; 15(1):45-54. View abstract
  20. Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. Eur J Hum Genet. 2012 Dec; 20(12):1240-7. View abstract
  21. Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations. . 2011 Aug; 155A(8):2024-7. View abstract
  22. Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia. Genet Med. 2011 Jun; 13(6):582-92. View abstract
  23. Genomic medicine and neurological disease. Hum Genet. 2011 Jul; 130(1):103-21. View abstract
  24. Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat. 2010 Dec; 31(12):1326-42. View abstract
  25. N-acetyltransferase 2 acetylation polymorphism: prevalence of slow acetylators does not differ between atopic dermatitis patients and healthy subjects. Skin Pharmacol Appl Skin Physiol. 2003 Nov-Dec; 16(6):386-92. View abstract
  26. The relationship between malaria and HIV. Cent Afr J Med. 1999 Feb; 45(2):43-5. View abstract
  27. An additional allelic variant of the CYP2D6 gene causing impaired metabolism of sparteine. Hum Genet. 1996 May; 97(5):668-70. View abstract
  28. A nonsense mutation in the cytochrome P450 CYP2D6 gene identified in a Caucasian with an enzyme deficiency. Hum Genet. 1995 Nov; 96(5):601-3. View abstract
  29. A novel CYP2D6 allele with an abolished splice recognition site associated with the poor metabolizer phenotype. Pharmacogenetics. 1995 Oct; 5(5):305-11. View abstract
  30. Indications for liver transplantation in pediatric patients. Clin Transplant. 1991 Apr; 5(2 part 2):155-60. View abstract