Current Environment: Production

Medical Services

Specialties

Programs & Services

Languages

  • English

Education

Undergraduate School

University of Kentucky

1991, Lexington, KY

Medical School

Washington University in St. Louis

1999, St. Louis, MO

Residency

Pediatrics

Yale New Haven Hospital

2002, New Haven, CT

Fellowship

Medical Genetics

Harvard Genetics Training Program

2005, Boston, MA

Certifications

  • American Board of Medical Genetics and Genomics (Clinical Genetics)
  • American Board of Medical Genetics and Genomics (Clinical Molecular Genetics and Genomics)

Professional History

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.

Dr Miller is the Director of the Neurofibromatosis (NF) Research Initiative (NFRI) and the Director of the Multidisciplinary NF Program at Boston Children’s Hospital. He is a national leader in best practices for clinical genetic testing. Dr. Miller is an Associate Professor of Pediatrics at Harvard Medical School, and Co-Director of the Advanced Integrated Science Course in Human Genetics at HMS. He serves as Deputy Editor-in-Chief of Genetics in Medicine, the official journal of the American College of Medical Genetics.

Publications

  1. Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti. Res Sq. 2025 Jan 30. View Abstract

  2. Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2024 Jul; 26(7):101142. View Abstract

  3. ACMG SF v3.2 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. 2023 08; 25(8):100866. View Abstract

  4. Genomic Patterns of Malignant Peripheral Nerve Sheath Tumor (MPNST) Evolution Correlate with Clinical Outcome and Are Detectable in Cell-Free DNA. Cancer Discov. 2023 03 01; 13(3):654-671. View Abstract

  5. Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk. Annu Rev Genomics Hum Genet. 2022 08 31; 23:331-361. View Abstract

  6. The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2. Genet Med. 2022 11; 24(11):2240-2248. View Abstract

  7. ACMG SF v3.1 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. 2022 07; 24(7):1407-1414. View Abstract

  8. Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels. Genet Med. 2022 09; 24(9):1899-1908. View Abstract

  9. Response to McGurk et al. Genet Med. 2022 03; 24(3):747-748. View Abstract

  10. 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

  11. Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 10; 23(10):1818-1829. View Abstract

  12. 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

  13. 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

  14. Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis. Children (Basel). 2021 Feb 10; 8(2). View Abstract

  15. Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2. Clin Genet. 2021 04; 99(4):547-557. View Abstract

  16. 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

  17. Insufficient Evidence for "Autism-Specific" Genes. Am J Hum Genet. 2020 05 07; 106(5):587-595. View Abstract

  18. Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 07; 22(7):1142-1148. View Abstract

  19. 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

  20. Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability. Genet Med. 2020 06; 22(6):986-1004. View Abstract

  21. Genetics of human malignant peripheral nerve sheath tumors. Neurooncol Adv. 2020 Jul; 2(Suppl 1):i50-i61. View Abstract

  22. 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

  23. Health Supervision for Children With Neurofibromatosis Type 1. Pediatrics. 2019 05; 143(5). View Abstract

  24. Response to Knoppers et al. Genet Med. 2019 10; 21(10):2403. View Abstract

  25. Correction: 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. 2019 03; 21(3):764-765. View Abstract

  26. 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. 2019 04; 21(4):769-771. View Abstract

  27. 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. 2019 04; 21(4):867-876. View Abstract

  28. 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

  29. 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 01 04; 102(1):69-87. View Abstract

  30. School liaison program supporting children with neurofibromatosis type 1: a model of care for children with chronic disease. Genet Med. 2018 07; 20(7):785-788. View Abstract

  31. Response to Biesecker. Genet Med. 2017 05; 19(5):605. View Abstract

  32. 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

  33. Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum. Neonatology. 2017; 111(2):140-144. View Abstract

  34. 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

  35. A Clinician's perspective on clinical exome sequencing. Hum Genet. 2016 06; 135(6):643-54. View Abstract

  36. Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing. Clin Chem. 2016 06; 62(6):799-806. View Abstract

  37. 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

  38. GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge. Hum Mutat. 2015 Oct; 36(10):974-8. View Abstract

  39. 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

  40. 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

  41. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58. View Abstract

  42. Neurologic features of Hutchinson-Gilford progeria syndrome after lonafarnib treatment. Neurology. 2013 Jul 30; 81(5):427-30. View Abstract

  43. 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

  44. Whole-genome sequencing: ready for prime time? Clin Chem. 2012 Dec; 58(12):1729-30. View Abstract

  45. 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

  46. A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome. Pediatr Radiol. 2012 Sep; 42(9):1089-98. View Abstract

  47. Oligonucleotide microarrays for clinical diagnosis of copy number variation and zygosity status. Curr Protoc Hum Genet. 2012 Jul; Chapter 8:Unit8.12. View Abstract

  48. 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

  49. Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med. 2012 Apr; 14(4):405-10. View Abstract

  50. Mechanisms of premature vascular aging in children with Hutchinson-Gilford progeria syndrome. Hypertension. 2012 Jan; 59(1):92-7. View Abstract

  51. Chromosomal microarray testing influences medical management. Genet Med. 2011 Sep; 13(9):770-6. View Abstract

  52. Age- and gender-dependent obesity in individuals with 16p11.2 deletion. J Genet Genomics. 2011 Sep 20; 38(9):403-9. View Abstract

  53. The adult galactosemic phenotype. J Inherit Metab Dis. 2012 Mar; 35(2):279-86. View Abstract

  54. Hutchinson-Gilford progeria is a skeletal dysplasia. J Bone Miner Res. 2011 Jul; 26(7):1670-9. View Abstract

  55. Cognitive and behavioral characterization of 16p11.2 deletion syndrome. J Dev Behav Pediatr. 2010 Oct; 31(8):649-57. View Abstract

  56. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 05; 153B(4):937-47. View Abstract

  57. 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

  58. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010 Apr; 125(4):e727-35. View Abstract

  59. 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

  60. 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

  61. Novel presentation of Omenn syndrome in association with aniridia. J Allergy Clin Immunol. 2009 Apr; 123(4):966-9. View Abstract

  62. Genetic testing for developmental delay: keep searching for an answer. Clin Chem. 2009 Apr; 55(4):827-30; discussion 830-2. View Abstract

  63. Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. Hum Mutat. 2008 Nov; 29(11):E205-19. View Abstract

  64. 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

  65. 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

  66. Oligonucleotide microarrays for clinical diagnosis of copy number variation. Curr Protoc Hum Genet. 2008 Jul; Chapter 8:Unit 8.12. View Abstract

  67. Oligonucleotide microarrays for clinical diagnosis of copy number variation. Current Protocols in Human Genetics. 2008.

  68. Genetic diagnosis of primary immune deficiencies. Immunol Allergy Clin North Am. 2008 May; 28(2):387-412, x. View Abstract

  69. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med. 2008 Apr; 10(4):267-77. View Abstract

  70. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008 Feb 14; 358(7):667-75. View Abstract

  71. 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

  72. 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

  73. 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

  74. Atherosclerosis: the path from genomics to therapeutics. J Am Coll Cardiol. 2007 Apr 17; 49(15):1589-1599. View Abstract

  75. 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

  76. Genetic determinants of C-reactive protein in COPD. Eur Respir J. 2006 Dec; 28(6):1156-62. View Abstract

  77. 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

  78. 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

  79. 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

  80. Association of common CRP gene variants with CRP levels and cardiovascular events. Ann Hum Genet. 2005 Nov; 69(Pt 6):623-38. View Abstract

  81. Genetics of C-Reactive Protein. CRP: Atherothrombosis and Cardiovascular Risk. P. M. Ridker and N. Rifai, eds. 2005.

  82. Case report: a young boy with painful leg swelling. Curr Opin Pediatr. 2002 Dec; 14(6):731-4. View Abstract

  83. The Drosophila primo locus encodes two low-molecular-weight tyrosine phosphatases. Gene. 2000 Feb 08; 243(1-2):1-9. View Abstract

  84. Regulation of EGF receptor signaling establishes pattern across the developing Drosophila retina. Development. 1998 Dec; 125(23):4777-90. View Abstract

  85. Local induction of patterning and programmed cell death in the developing Drosophila retina. Development. 1998 Jun; 125(12):2327-35. View Abstract

I became a medical geneticist because of my fascination with the profound effects that genetic differences have on people. People with rare genetic disorders have some needs that are unique, and others that are universal. My goal is to provide excellent care for each patient in a way that meets their needs.

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