ABOUT THE RESEARCHER

OVERVIEW

Dr. Miller’s patient care focus is on Neurofibromatosis, a genetic condition causing predisposition to developing nervous system tumors. He is the Director of the Multidisciplinary Neurofibromatosis Program at Boston Children’s Hospital, and the Director of an International NF1 Initiative to apply genomic sequencing technologies to better understand the most aggressive NF1-related tumors with the goal of leading to improved treatments. Dr. Miller is also a leader in several national efforts around best practices for clinical genetics and genetic testing, particularly for pediatric neurodevelopmental disorders. He is Chair of the ACMG Professional Practice and Guidelines Committee and is leading a national effort to update clinical practice guidelines for children with Neurofibromatosis Type 1. He Co-Chairs the ACMG Working Group on Secondary Findings Maintenance related to clinical exome sequencing which published an update to the ACMG list in November, 2016. Dr. Miller is also the Chairperson for the Clinical Phenotyping Working Group for ClinGen, an NHGRI-funded effort to build a clinical genomic database for genotype and phenotype information to improve interpretation of genetic test results. Within ClinGen, he is leading efforts to develop MOC credit for ClinGen database curation work, and to improve the uniformity of condition names related to the entries in ClinGen. He is also a Genetics Editor on the Editorial Board for Epilepsia.

Laboratory Projects

Dr. Miller is engaged in collaborative projects related to genetic testing of tumor samples removed from patients with Neurofibromatosis. This work includes exome- and genome-based sequencing of atypical neurofibromas and malignant peripheral nerve sheath tumors (MPNSTs).

BACKGROUND

Dr. Miller received his M.D. and Ph.D. degrees from Washington University School of Medicine in St. Louis, completed a residency in Pediatrics at Yale-New Haven Hospital, and residency/fellowship in medical genetics and clinical molecular genetics at Harvard Medical School. He is board-certified in Clinical Genetics and Clinical Molecular Genetics. In addition to being a practicing Medical Geneticist, Dr. Miller has served Boston Children’s Hospital as Assistant Director of the Genetic Diagnostic Laboratory (GDL) for several years, and is now Medical Director at Claritas Genomics (a subsidiary of Boston Children’s Hospital). Dr. Miller is an Associate Professor of Pediatrics at Harvard Medical School, and an active contributor to the Human Genetics course at the Medical School. Dr. Miller’s experience as a clinician who orders genetic tests and provides results directly to patients, combined with expertise in developing and performing clinical laboratory diagnostic assays, provides him with a unique and valuable perspective at the interface of genomic technology and clinical care.

Selected Publications

  1. Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, Herman GE, Hufnagel SB, Klein TE, Korf BR, McKelvey KD, Ormond KE, Richards CS, Vlangos CN, Watson M, Martin CL, Miller DT (2016). Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2016 Nov 17 [Epub ahead of print].
  2. Olson H, Shen Y, Avallone J, et al. (2014). Copy number variation plays an important role in clinical epilepsy. Ann Neurol 75(6):943-58.
  3. Riggs ER, Wain KE, Riethmaier D, Smith-Packard B, Faucett WA, Hoppman N, Thorland EC, Patel VC, Miller DT (2013). Chromosomal Microarray Impacts Clinical Management. Clinical Genetics. 85(2):147-53.
  4. Coulter ME*, Miller DT*, Harris DJ, Hawley P, Sobeih MMS, Irons M (2011). Chromosomal Microarray Testing Influences Medical Management. Genetics in Medicine 13(9): 770-6.
  5. Miller DT, Adam MP, Aradhya S, et al (2010). Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86(5):749-64.

PUBLICATIONS

Publications powered by Harvard Catalyst Profiles

  1. Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Aug; 23(8):1582-1584. View abstract
  2. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 08; 23(8):1391-1398. View abstract
  3. ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 08; 23(8):1381-1390. View abstract
  4. Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis. Children (Basel). 2021 Feb 10; 8(2). View abstract
  5. Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2020 Oct; 22(10):1731-1732. View abstract
  6. Insufficient Evidence for "Autism-Specific" Genes. Am J Hum Genet. 2020 05 07; 106(5):587-595. View abstract
  7. Genomics of MPNST (GeM) Consortium: Rationale and Study Design for Multi-Omic Characterization of NF1-Associated and Sporadic MPNSTs. Genes (Basel). 2020 04 02; 11(4). View abstract
  8. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2019 11; 21(11):2413-2421. View abstract
  9. Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 10; 20(10):1105-1113. View abstract
  10. Response to Biesecker. Genet Med. 2017 05; 19(5):605. View abstract
  11. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017 02; 19(2):249-255. View abstract
  12. Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum. Neonatology. 2017; 111(2):140-144. View abstract
  13. Clinical Trial of the Protein Farnesylation Inhibitors Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford Progeria Syndrome. Circulation. 2016 Jul 12; 134(2):114-25. View abstract
  14. A Clinician's perspective on clinical exome sequencing. Hum Genet. 2016 06; 135(6):643-54. View abstract
  15. Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing. Clin Chem. 2016 06; 62(6):799-806. View abstract
  16. A Case of HDR Syndrome and Ichthyosis: Dual Diagnosis by Whole-Genome Sequencing of Novel Mutations in GATA3 and STS Genes. J Clin Endocrinol Metab. 2016 Mar; 101(3):837-40. View abstract
  17. GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge. Hum Mutat. 2015 Oct; 36(10):974-8. View abstract
  18. Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield. BMC Genomics. 2014 Dec 17; 15:1127. View abstract
  19. Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders. Curr Genet Med Rep. 2014 Sep; 2(3):124-134. View abstract
  20. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58. View abstract
  21. Neurologic features of Hutchinson-Gilford progeria syndrome after lonafarnib treatment. Neurology. 2013 Jul 30; 81(5):427-30. View abstract
  22. Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities. Genet Med. 2013 Sep; 15(9):706-12. View abstract
  23. Whole-genome sequencing: ready for prime time? Clin Chem. 2012 Dec; 58(12):1729-30. View abstract
  24. Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A. 2012 Oct 09; 109(41):16666-71. View abstract
  25. A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome. Pediatr Radiol. 2012 Sep; 42(9):1089-98. View abstract
  26. Oligonucleotide microarrays for clinical diagnosis of copy number variation and zygosity status. Curr Protoc Hum Genet. 2012 Jul; Chapter 8:Unit8.12. View abstract
  27. Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience. Hum Mutat. 2012 May; 33(5):787-96. View abstract
  28. Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med. 2012 Apr; 14(4):405-10. View abstract
  29. Mechanisms of premature vascular aging in children with Hutchinson-Gilford progeria syndrome. Hypertension. 2012 Jan; 59(1):92-7. View abstract
  30. Chromosomal microarray testing influences medical management. Genet Med. 2011 Sep; 13(9):770-6. View abstract
  31. Age- and gender-dependent obesity in individuals with 16p11.2 deletion. J Genet Genomics. 2011 Sep 20; 38(9):403-9. View abstract
  32. The adult galactosemic phenotype. J Inherit Metab Dis. 2012 Mar; 35(2):279-86. View abstract
  33. Hutchinson-Gilford progeria is a skeletal dysplasia. J Bone Miner Res. 2011 Jul; 26(7):1670-9. View abstract
  34. Cognitive and behavioral characterization of 16p11.2 deletion syndrome. J Dev Behav Pediatr. 2010 Oct; 31(8):649-57. View abstract
  35. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. . 2010 Jun 05; 153B(4):937-47. View abstract
  36. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010 May 14; 86(5):749-64. View abstract
  37. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010 Apr; 125(4):e727-35. View abstract
  38. Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases. J Mol Diagn. 2010 Mar; 12(2):204-12. View abstract
  39. Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss. Physiol Genomics. 2009 Aug 07; 38(3):281-90. View abstract
  40. Novel presentation of Omenn syndrome in association with aniridia. J Allergy Clin Immunol. 2009 Apr; 123(4):966-9. View abstract
  41. Genetic testing for developmental delay: keep searching for an answer. Clin Chem. 2009 Apr; 55(4):827-30; discussion 830-2. View abstract
  42. Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. Hum Mutat. 2008 Nov; 29(11):E205-19. View abstract
  43. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet. 2009 Apr; 46(4):242-8. View abstract
  44. SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss. Genet Med. 2008 Aug; 10(8):586-92. View abstract
  45. Oligonucleotide microarrays for clinical diagnosis of copy number variation. Curr Protoc Hum Genet. 2008 Jul; Chapter 8:Unit 8.12. View abstract
  46. Oligonucleotide microarrays for clinical diagnosis of copy number variation. Current Protocols in Human Genetics. 2008. View abstract
  47. Genetic diagnosis of primary immune deficiencies. Immunol Allergy Clin North Am. 2008 May; 28(2):387-412, x. View abstract
  48. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med. 2008 Apr; 10(4):267-77. View abstract
  49. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008 Feb 14; 358(7):667-75. View abstract
  50. Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. Clin Chem. 2007 Dec; 53(12):2051-9. View abstract
  51. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. . 2007 Aug 01; 143A(15):1679-86. View abstract
  52. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med. 2007 Jul; 9(7):427-41. View abstract
  53. Atherosclerosis: the path from genomics to therapeutics. J Am Coll Cardiol. 2007 Apr 17; 49(15):1589-1599. View abstract
  54. Influence of genetic variation in the C-reactive protein gene on the inflammatory response during and after acute coronary ischemia. Ann Hum Genet. 2006 Nov; 70(Pt 6):705-16. View abstract
  55. Genetic determinants of C-reactive protein in COPD. Eur Respir J. 2006 Dec; 28(6):1156-62. View abstract
  56. Lack of association between genetic variation in 9 innate immunity genes and baseline CRP levels. Ann Hum Genet. 2006 Sep; 70(Pt 5):574-86. View abstract
  57. Lack of Association Between Genetic Variation in 9 Innate Immunity Genes and Baseline CRP Levels. Ann Hum Genet. 2006 Sep; 70(5):574-586. View abstract
  58. A prospective assessment of the Y402H variant in complement factor H, genetic variants in C-reactive protein, and risk of age-related macular degeneration. Invest Ophthalmol Vis Sci. 2006 Jun; 47(6):2336-40. View abstract
  59. Association of common CRP gene variants with CRP levels and cardiovascular events. Ann Hum Genet. 2005 Nov; 69(Pt 6):623-38. View abstract
  60. Genetics of C-Reactive Protein. CRP: Atherothrombosis and Cardiovascular Risk. P. M. Ridker and N. Rifai, eds. 2005. View abstract
  61. Case report: a young boy with painful leg swelling. Curr Opin Pediatr. 2002 Dec; 14(6):731-4. View abstract
  62. The Drosophila primo locus encodes two low-molecular-weight tyrosine phosphatases. Gene. 2000 Feb 08; 243(1-2):1-9. View abstract
  63. Regulation of EGF receptor signaling establishes pattern across the developing Drosophila retina. Development. 1998 Dec; 125(23):4777-90. View abstract
  64. Local induction of patterning and programmed cell death in the developing Drosophila retina. Development. 1998 Jun; 125(12):2327-35. View abstract