Photo of David T. Miller,  MD, PhD

David T. Miller, MD, PhD

Boston Children's Hospital

Boston Children's Hospital
Phone: (617) 355-8221


dtmiller@partners.org

David T. Miller, MD, PhD

Boston Children's Hospital

EDUCATIONAL TITLES

  • Associate Professor, Pediatrics, Harvard Medical School
  • Director, Multidisciplinary Neurofibromatosis Program, Medicine (Genetics), Boston Children's Hospital
  • Associate Molecular Pathologist, Pathology, Brigham And Women's Hospital

DF/HCC PROGRAM AFFILIATION

Research Abstract

My clinical, research, and teaching activities are focused on clinical expertise and innovation in delivering clinically effective and appropriate diagnostic genetic testing services related to genetic disorders, including inherited cancer predisposition. Leveraging molecular science to improve patient care is my passion. My main clinical and research area is currently Neurofibromatosis (NF), and I direct the Multidisciplinary Neurofibromatosis Program at Boston Children’s Hospital. I also direct a philanthropically-funded research initiative focused on advancing pre-clinical research towards effective treatment of NF1-related tumors. Related to my interest in tumor predisposition among patients with NF1, I am also involved in clinical laboratory testing for inherited cancer predisposition at Brigham and Women’s Hospital. I have extensive experience interpreting the clinical significance of all types of genetic variants, including chromosomal and structural variation, single gene disorders, and complex genetic disorders. I have published numerous articles on the topic of clinical genetic testing, including diagnostic yield and clinical utility. I am active at the national level in forming policy around clinical care for NF1 and clinical application of germline genetic testing in cancer predisposition through my role as the Chair of the American College of Medical Genetics (ACMG) Professional Practice and Guideline Committee, and the Co-Chair of ACMG’s Working Group on Secondary Findings related to genomic sequencing.

Publications

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  • Miller DT, Freedenberg D, Schorry E, Ullrich NJ, Viskochil D, Korf BR, , . Health Supervision for Children With Neurofibromatosis Type 1. Pediatrics 2019. PubMed
  • David KL, Best RG, Brenman LM, Bush L, Deignan JL, Flannery D, Hoffman JD, Holm I, Miller DT, O'Leary J, Pyeritz RE, . Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2018. PubMed
  • Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med 2018. PubMed
  • Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao MC, Chen Z, Balasubramanian M, Barnett CP, Becker TA, Ben-Shachar S, Bertola DR, Blakeley JO, Burkitt-Wright EMM, Callaway A, Crenshaw M, Cunha KS, Cunningham M, D'Agostino MD, Dahan K, De Luca A, Destrée A, Dhamija R, Eoli M, Evans DGR, Galvin-Parton P, George-Abraham JK, Gripp KW, Guevara-Campos J, Hanchard NA, Hernández-Chico C, Immken L, Janssens S, Jones KJ, Keena BA, Kochhar A, Liebelt J, Martir-Negron A, Mahoney MJ, Maystadt I, McDougall C, McEntagart M, Mendelsohn N, Miller DT, Mortier G, Morton J, Pappas J, Plotkin SR, Pond D, Rosenbaum K, Rubin K, Russell L, Rutledge LS, Saletti V, Schonberg R, Schreiber A, Seidel M, Siqveland E, Stockton DW, Trevisson E, Ullrich NJ, Upadhyaya M, van Minkelen R, Verhelst H, Wallace MR, Yap YS, Zackai E, Zonana J, Zurcher V, Claes K, Martin Y, Korf BR, Legius E, Messiaen LM. Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. Am J Hum Genet 2018; 102:69-87. PubMed
  • Chambers MA, Miller DT, Ullrich NJ. School liaison program supporting children with neurofibromatosis type 1: a model of care for children with chronic disease. Genet Med 2017. PubMed
  • 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. 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; 19:249-255. PubMed
  • Gordon LB, Kleinman ME, Massaro J, D'Agostino RB, Shappell H, Gerhard-Herman M, Smoot LB, Gordon CM, Cleveland RH, Nazarian A, Snyder BD, Ullrich NJ, Silvera VM, Liang MG, Quinn N, Miller DT, Huh SY, Dowton AA, Littlefield K, Greer MM, Kieran MW. Clinical Trial of the Protein Farnesylation Inhibitors Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford Progeria Syndrome. Circulation 2016; 134:114-25. PubMed
  • Baudhuin LM, Funke BH, Bean LH, Deignan JL, Hofherr S, Miller DT, Nagan N, Santani A, Saunders C. Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing. Clin Chem 2016; 62:799-806. PubMed
  • O'Donnell-Luria AH, Miller DT. A Clinician's perspective on clinical exome sequencing. Hum Genet 2018; 135:643-54. PubMed
  • Kirkpatrick BE, Riggs ER, Azzariti DR, Miller VR, Ledbetter DH, Miller DT, Rehm H, Martin CL, Faucett WA, . GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge. Hum Mutat 2017; 36:974-8. PubMed
  • Mason-Suares H, Kim W, Grimmett L, Williams ES, Horner VL, Kunig D, Goldlust IS, Wu BL, Shen Y, Miller DT, Martin CL, Rudd MK. Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities. Genet Med 2016; 15:706-12. PubMed
  • Ullrich NJ, Kieran MW, Miller DT, Gordon LB, Cho YJ, Silvera VM, Giobbie-Hurder A, Neuberg D, Kleinman ME. Neurologic features of Hutchinson-Gilford progeria syndrome after lonafarnib treatment. Neurology 2013; 81:427-30. PubMed
  • Teekakirikul P, Milewicz DM, Miller DT, Lacro RV, Regalado ES, Rosales AM, Ryan DP, Toler TL, Lin AE. Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. Am J Med Genet A 2016; 161A:185-91. PubMed
  • Gordon LB, Kleinman ME, Miller DT, Neuberg DS, Giobbie-Hurder A, Gerhard-Herman M, Smoot LB, Gordon CM, Cleveland R, Snyder BD, Fligor B, Bishop WR, Statkevich P, Regen A, Sonis A, Riley S, Ploski C, Correia A, Quinn N, Ullrich NJ, Nazarian A, Liang MG, Huh SY, Schwartzman A, Kieran MW. Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A 2012; 109:16666-71. PubMed
  • Miller DT, Shen Y, Wu BL. Oligonucleotide microarrays for clinical diagnosis of copy number variation and zygosity status. Curr Protoc Hum Genet 2016; Chapter 8:Unit8.12. PubMed
  • Riggs ER, Jackson L, Miller DT, Van Vooren S. Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience. Hum Mutat 2016; 33:787-96. PubMed
  • Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum RL, Plon SE, Rehm HL, Jacob HJ. Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med 2016; 14:405-10. PubMed
  • Coulter ME, Miller DT, Harris DJ, Hawley P, Picker J, Roberts AE, Sobeih MM, Irons M. Chromosomal microarray testing influences medical management. Genet Med 2011; 13:770-6. PubMed
  • 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; 86:749-64. PubMed
  • Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Urion DK, Milunsky JM, Rappaport L, Gusella JF, Walsh CA, Wu BL, Miller DT, . Clinical Genetic Testing for Patients With Autism Spectrum Disorders. Pediatrics 2010; 125:e727-35. PubMed
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