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Author Details

David T Miller
Boston Children's Hospital
2005
80
40
PMIDPaper TitleJournal TitlePublished Year
37347242ACMG 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 Med2023
34906521Response to McGurk et al.Genet Med2022
35616647Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.Genet Med2022
35802134ACMG 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 Med2022
36044908Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.Annu Rev Genomics Hum Genet2022
33381861Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.Clin Genet2021
33578785Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis.Children (Basel)2021
34131312Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genet Med2021
34345026Correction 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 Med2021
34012069Recommendations 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 Med2021
34012068ACMG 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 Med2021
32252413Genomics of MPNST (GeM) Consortium: Rationale and Study Design for Multi-Omic Characterization of NF1-Associated and Sporadic MPNSTs.Genes (Basel)2020
32728138Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.Genet Med2020
32359473Insufficient Evidence for "Autism-Specific" Genes.Am J Hum Genet2020
32203227Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.Genet Med2020
30275510Correction: 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 Med2019
32642732Genetics of human malignant peripheral nerve sheath tumors.Neurooncol Adv2019
30190611Expanding 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 Med2019
31182824Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.Genet Med2019
31010905Health Supervision for Children With Neurofibromatosis Type 1.Pediatrics2019
30971833Response to Knoppers et al.Genet Med2019
29290338Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.Am J Hum Genet2018
29915380Yield 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 Med2018
29261174School liaison program supporting children with neurofibromatosis type 1: a model of care for children with chronic disease.Genet Med2018
27756070Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum.Neonatology2017
28406491Response to Biesecker.Genet Med2017
27854360Recommendations 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 Med2017
26731259A Case of HDR Syndrome and Ichthyosis: Dual Diagnosis by Whole-Genome Sequencing of Novel Mutations in GATA3 and STS Genes.J Clin Endocrinol Metab2016
27522563Commentary: 2016 Clinical Epilepsia Prize.Epilepsia2016
27282546BRAT1 mutations present with a spectrum of clinical severity.Am J Med Genet A2016
27400896Clinical Trial of the Protein Farnesylation Inhibitors Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford Progeria Syndrome.Circulation2016
27126233A Clinician's perspective on clinical exome sequencing.Hum Genet2016
26861553Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing.Clin Chem2016
26178529GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge.Hum Mutat2015
23347240Chromosomal microarray impacts clinical management.Clin Genet2014
30345165Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders.Curr Genet Med Rep2014
25516202Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield.BMC Genomics2014
24811917Copy number variation plays an important role in clinical epilepsy.Ann Neurol2014
24491508Treating the whole person with autism: the proceedings of the Autism Speaks National Autism Conference.Curr Probl Pediatr Adolesc Health Care2014
23239472Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations.Am J Med Genet A2013
23897869Neurologic features of Hutchinson-Gilford progeria syndrome after lonafarnib treatment.Neurology2013
23558256Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities.Genet Med2013
21779791The adult galactosemic phenotype.J Inherit Metab Dis2012
23326855Whole-genome sequencing: ready for prime time?Clin Chem2012
23012407Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome.Proc Natl Acad Sci U S A2012
22752073A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome.Pediatr Radiol2012
22786613Oligonucleotide microarrays for clinical diagnosis of copy number variation and zygosity status.Curr Protoc Hum Genet2012
22422049Exploring concordance and discordance for return of incidental findings from clinical sequencing.Genet Med2012
22331816Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience.Hum Mutat2012
22083160Mechanisms of premature vascular aging in children with Hutchinson-Gilford progeria syndrome.Hypertension2012
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Collaborators

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Boston Children's Hospital, Harvard Medical School
Co-authored papers 7
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Oregon Health & Science University (OHSU)
Co-authored papers 6
The University of North Carolina at Chapel Hill
Co-authored papers 6
Northwestern University Feinberg School of Medicine.
Co-authored papers 6
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Co-authored papers 6
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Stanford University
Co-authored papers 5
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Illumina Inc.
Co-authored papers 5
University of Florida, College of Medicine-Jacksonville
Co-authored papers 5
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Clinical Genetics Branch, National Cancer Institute
Co-authored papers 5
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Co-authored papers 5
Co-authored papers 4
Children's Hospital Boston, Harvard Medical School
Co-authored papers 4
Harvard Medical School, Harvard University
Co-authored papers 4
University of Washington
Co-authored papers 4
Geisinger Autism & Developmental Medicine Institute
Co-authored papers 4
Broad Institute of MIT and Harvard
Co-authored papers 4
Ironwood Pharmaceuticals
Co-authored papers 3
Genomic Medicine Institute
Co-authored papers 3
Vanderbilt University Medical Center
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The Hospital for Sick Children
Co-authored papers 3
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University of North Carolina
Co-authored papers 3
Harvard Medical School
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Children's Hospital of Philadelphia
Co-authored papers 3
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