Research 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).

About David Miller

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

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].

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.

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.

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.

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.

Researcher Services

Researcher Areas

  • Genetics

Research Departments

Research Divisions

PUBLICATIONS

Publications powered by Harvard Catalyst Profiles

  1. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. 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
  2. Sheehan WJ, Delmonte OM, Miller DT, Roberts AE, Bonilla FA, Morra M, Giliani S, Pai SY, Notarangelo LD, Oettgen HC. Novel presentation of Omenn syndrome in association with aniridia. J Allergy Clin Immunol. 2009 Apr; 123(4):966-9. View abstract
  3. Miller DT, Shen Y, Harris DJ, Wu BL, Sobeih MM. Genetic testing for developmental delay: keep searching for an answer. Clin Chem. 2009 Apr; 55(4):827-30; discussion 830-2. View abstract
  4. Beysen D, De Jaegere S, Amor D, Bouchard P, Christin-Maitre S, Fellous M, Touraine P, Grix AW, Hennekam R, Meire F, Oyen N, Wilson LC, Barel D, Clayton-Smith J, de Ravel T, Decock C, Delbeke P, Ensenauer R, Ebinger F, Gillessen-Kaesbach G, Hendriks Y, Kimonis V, Laframboise R, Laissue P, Leppig K, Leroy BP, Miller DT, Mowat D, Neumann L, Plomp A, Van Regemorter N, Wieczorek D, Veitia RA, De Paepe A, De Baere E. Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. Hum Mutat. 2008 Nov; 29(11):E205-19. View abstract
  5. Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu BL. 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
  6. Dai P, Li Q, Huang D, Yuan Y, Kang D, Miller DT, Shao H, Zhu Q, He J, Yu F, Liu X, Han B, Yuan H, Platt OS, Han D, Wu BL. 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
  7. Miller DT, Shen Y, Wu BL. Oligonucleotide microarrays for clinical diagnosis of copy number variation. Curr Protoc Hum Genet. 2008 Jul; Chapter 8:Unit 8.12. View abstract
  8. Miller DT, Shen Y, Wu B-L. Oligonucleotide microarrays for clinical diagnosis of copy number variation. Current Protocols in Human Genetics. 2008. View abstract
  9. Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT. Genetic diagnosis of primary immune deficiencies. Immunol Allergy Clin North Am. 2008 May; 28(2):387-412, x. View abstract
  10. Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med. 2008 Apr; 10(4):267-77. View abstract
  11. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008 Feb 14; 358(7):667-75. View abstract
  12. Shen Y, Irons M, Miller DT, Cheung SW, Lip V, Sheng X, Tomaszewicz K, Shao H, Fang H, Tang HS, Irons M, Walsh CA, Platt O, Gusella JF, Wu BL. 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
  13. Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, Lupski JR, Beaudet AL, Sutton VR. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A. 2007 Aug 01; 143A(15):1679-86. View abstract
  14. Berg JS, Brunetti-Pierri N, Peters SU, Kang SH, Fong CT, Salamone J, Freedenberg D, Hannig VL, Prock LA, Miller DT, Raffalli P, Harris DJ, Erickson RP, Cunniff C, Clark GD, Blazo MA, Peiffer DA, Gunderson KL, Sahoo T, Patel A, Lupski JR, Beaudet AL, Cheung SW. 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
  15. Miller DT, Ridker PM, Libby P, Kwiatkowski DJ. Atherosclerosis: the path from genomics to therapeutics. J Am Coll Cardiol. 2007 Apr 17; 49(15):1589-99. View abstract
  16. Suk Danik J, Chasman DI, Cannon CP, Miller DT, Zee RY, Kozlowski P, Kwiatkowski DJ, Ridker PM. 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
  17. Hersh CP, Miller DT, Kwiatkowski DJ, Silverman EK. Genetic determinants of C-reactive protein in COPD. Eur Respir J. 2006 Dec; 28(6):1156-62. View abstract
  18. Kozlowski P, Miller DT, Zee RY, Danik JS, Chasman DI, Lazarus R, Cook NR, Ridker PM, Kwiatkowski DJ. 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
  19. Schaumberg DA, Christen WG, Kozlowski P, Miller DT, Ridker PM, Zee RY. 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
  20. Miller DT, Zee RY, Suk Danik J, Kozlowski P, Chasman DI, Lazarus R, Cook NR, Ridker PM, Kwiatkowski DJ. Association of common CRP gene variants with CRP levels and cardiovascular events. Ann Hum Genet. 2005 Nov; 69(Pt 6):623-38. View abstract
  21. Suk J, Miller DT, Zee R. . Genetics of C-Reactive Protein. CRP: Atherothrombosis and Cardiovascular Risk. P. M. Ridker and N. Rifai, eds. 2005. View abstract
  22. Miller DT, Ment LR. Case report: a young boy with painful leg swelling. Curr Opin Pediatr. 2002 Dec; 14(6):731-4. View abstract
  23. Miller DT, Read R, Rusconi J, Cagan RL. The Drosophila primo locus encodes two low-molecular-weight tyrosine phosphatases. Gene. 2000 Feb 08; 243(1-2):1-9. View abstract
  24. Spencer SA, Powell PA, Miller DT, Cagan RL. Regulation of EGF receptor signaling establishes pattern across the developing Drosophila retina. Development. 1998 Dec; 125(23):4777-90. View abstract
  25. Miller DT, Cagan RL. Local induction of patterning and programmed cell death in the developing Drosophila retina. Development. 1998 Jun; 125(12):2327-35. View abstract