David Miller, MD, PhD
Co-Director, Multidisciplinary Neurofibromatosis Program
Associate Professor of Pediatrics, Harvard Medical School
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David Miller, MD, PhD
Co-Director, Multidisciplinary Neurofibromatosis Program
Associate Professor of Pediatrics, Harvard Medical School
Medical 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.
Approach to Care
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.
Publications
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti. View Abstract
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). View Abstract
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). View Abstract
Genomic Patterns of Malignant Peripheral Nerve Sheath Tumor (MPNST) Evolution Correlate with Clinical Outcome and Are Detectable in Cell-Free DNA. View Abstract
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk. View Abstract
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2. View Abstract
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). View Abstract
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels. View Abstract
Response to McGurk et al. View Abstract
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). View Abstract
Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). View Abstract
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). View Abstract
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). View Abstract
Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis. View Abstract
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2. View Abstract
Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. View Abstract
Insufficient Evidence for "Autism-Specific" Genes. View Abstract
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). View Abstract
Genomics of MPNST (GeM) Consortium: Rationale and Study Design for Multi-Omic Characterization of NF1-Associated and Sporadic MPNSTs. View Abstract
Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability. View Abstract
Genetics of human malignant peripheral nerve sheath tumors. View Abstract
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. View Abstract
Health Supervision for Children With Neurofibromatosis Type 1. View Abstract
Response to Knoppers et al. View Abstract
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. View Abstract
Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG). View Abstract
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. View Abstract
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). View Abstract
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. View Abstract
School liaison program supporting children with neurofibromatosis type 1: a model of care for children with chronic disease. View Abstract
Response to Biesecker. View Abstract
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. View Abstract
Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum. View Abstract
Clinical Trial of the Protein Farnesylation Inhibitors Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford Progeria Syndrome. View Abstract
A Clinician's perspective on clinical exome sequencing. View Abstract
Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing. View Abstract
A Case of HDR Syndrome and Ichthyosis: Dual Diagnosis by Whole-Genome Sequencing of Novel Mutations in GATA3 and STS Genes. View Abstract
GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge. View Abstract
Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield. View Abstract
Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders. View Abstract
Copy number variation plays an important role in clinical epilepsy. View Abstract
Neurologic features of Hutchinson-Gilford progeria syndrome after lonafarnib treatment. View Abstract
Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities. View Abstract
Whole-genome sequencing: ready for prime time? View Abstract
Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome. View Abstract
A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome. View Abstract
Oligonucleotide microarrays for clinical diagnosis of copy number variation and zygosity status. View Abstract
Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience. View Abstract
Exploring concordance and discordance for return of incidental findings from clinical sequencing. View Abstract
Mechanisms of premature vascular aging in children with Hutchinson-Gilford progeria syndrome. View Abstract
Chromosomal microarray testing influences medical management. View Abstract
Age- and gender-dependent obesity in individuals with 16p11.2 deletion. View Abstract
The adult galactosemic phenotype. View Abstract
Hutchinson-Gilford progeria is a skeletal dysplasia. View Abstract
Cognitive and behavioral characterization of 16p11.2 deletion syndrome. View Abstract
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. View Abstract
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. View Abstract
Clinical genetic testing for patients with autism spectrum disorders. View Abstract
Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases. View Abstract
Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss. View Abstract
Novel presentation of Omenn syndrome in association with aniridia. View Abstract
Genetic testing for developmental delay: keep searching for an answer. View Abstract
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. View Abstract
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. View Abstract
SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss. View Abstract
Oligonucleotide microarrays for clinical diagnosis of copy number variation. View Abstract
Oligonucleotide microarrays for clinical diagnosis of copy number variation View Abstract
Genetic diagnosis of primary immune deficiencies. View Abstract
Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. View Abstract
Association between microdeletion and microduplication at 16p11.2 and autism. View Abstract
Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. View Abstract
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. View Abstract
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. View Abstract
Atherosclerosis: the path from genomics to therapeutics. View Abstract
Influence of genetic variation in the C-reactive protein gene on the inflammatory response during and after acute coronary ischemia. View Abstract
Genetic determinants of C-reactive protein in COPD. View Abstract
Lack of association between genetic variation in 9 innate immunity genes and baseline CRP levels. View Abstract
Lack of Association Between Genetic Variation in 9 Innate Immunity Genes and Baseline CRP Levels. View Abstract
A prospective assessment of the Y402H variant in complement factor H, genetic variants in C-reactive protein, and risk of age-related macular degeneration. View Abstract
Association of common CRP gene variants with CRP levels and cardiovascular events. View Abstract
Genetics of C-Reactive Protein View Abstract
Case report: a young boy with painful leg swelling. View Abstract
The Drosophila primo locus encodes two low-molecular-weight tyrosine phosphatases. View Abstract
Regulation of EGF receptor signaling establishes pattern across the developing Drosophila retina. View Abstract
Local induction of patterning and programmed cell death in the developing Drosophila retina. View Abstract
Locations