David T Miller

David T Miller

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David T Miller

David T Miller

Publications by authors named "David T Miller"

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Response to Knoppers et al.

Genet Med 2019 10 11;21(10):2403. Epub 2019 Apr 11.

Division of Translational Medicine and Human Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1038/s41436-019-0496-zDOI Listing
October 2019

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 7;21(4):867-876. Epub 2018 Sep 7.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752285PMC
April 2019

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 22;21(4):769-771. Epub 2018 Dec 22.

Division of Translational Medicine and Human Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1038/s41436-018-0391-zDOI Listing
April 2019

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

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://www.nature.com/articles/s41436-018-0326-8
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http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
March 2019

School liaison program supporting children with neurofibromatosis type 1: a model of care for children with chronic disease.

Genet Med 2018 07 26;20(7):785-788. Epub 2017 Oct 26.

Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.

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http://www.nature.com/articles/gim2017177
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http://dx.doi.org/10.1038/gim.2017.177DOI Listing
July 2018

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 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum.

Neonatology 2017 19;111(2):140-144. Epub 2016 Oct 19.

Department of Pediatric Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Mass., USA.

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http://dx.doi.org/10.1159/000449241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5290190PMC
December 2017

Response to Biesecker.

Genet Med 2017 05 13;19(5):605. Epub 2017 Apr 13.

Autism &Developmental Medicine Institute, Geisinger Health System, Lewisburg, Pennsylvania, USA.

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http://dx.doi.org/10.1038/gim.2017.25DOI Listing
May 2017

Loss of Twist1 in the Mesenchymal Compartment Promotes Increased Fibrosis in Experimental Lung Injury by Enhanced Expression of CXCL12.

J Immunol 2017 03 8;198(6):2269-2285. Epub 2017 Feb 8.

Dorothy P. and Richard P. Simmons Center for Interstitial Lung Disease and the Division of Pulmonary, Allergy, and Critical Care Medicine, University of Pittsburgh, Pittsburgh, PA 15213;

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http://dx.doi.org/10.4049/jimmunol.1600610DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5337810PMC
March 2017

Commentary: 2016 Clinical Epilepsia Prize.

Authors:
David T Miller

Epilepsia 2016 09 14;57(9):1345-6. Epub 2016 Aug 14.

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http://dx.doi.org/10.1111/epi.13484DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987214PMC
September 2016

Clinical Trial of the Protein Farnesylation Inhibitors Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford Progeria Syndrome.

Circulation 2016 Jul;134(2):114-25

From Departments of Anesthesia (L.B.G., M.E.K., A.A.D., K.L., M.M.G.), Cardiology (L.B.S.), Radiology (R.H.C., V.M.S.), Orthopedics (B.D.S.), Neurology (N.J.U.), Dermatology (M.G.L.), Genetics and Genomics (D.T.M.), Gastroenterology and Nutrition (S.Y.H.), and Hematology Oncology (M.W.K.), and Clinical Translational Study Unit (N.Q.), Boston Children's Hospital and Harvard Medical School, MA; Department of Pediatrics, Hasbro Children's Hospital and Warren Alpert Medical School of Brown University, Providence, RI (L.B.G.); Department of Biostatistics, Boston University School of Public Health and Harvard Clinical Research Institute, MA (J.M., R.B.D., H.S.); Division of Cardiology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA (M.G.-H.); Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati Children's Hospital Medical Center, OH (C.M.G.); Center for Advanced Orthopaedic Studies, Department of Orthopedic Surgery, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA (A.N.); and Division of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA (M.W.K.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.116.022188DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4943677PMC
July 2016

Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing.

Clin Chem 2016 06 9;62(6):799-806. Epub 2016 Feb 9.

Director, Molecular Genetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Mercy, Kansas City, MO.

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http://dx.doi.org/10.1373/clinchem.2015.247874DOI Listing
June 2016

A Clinician's perspective on clinical exome sequencing.

Hum Genet 2016 06 28;135(6):643-54. Epub 2016 Apr 28.

Division of Genetics and Genomics, Boston Children's Hospital, 300 Longwood Ave., Hunnewell 5, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/s00439-016-1662-xDOI Listing
June 2016

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 5;101(3):837-40. Epub 2016 Jan 5.

Division of Endocrinology, Department of Pediatrics (G.G.), and Division of Genetics and Genomics (P.P.H., D.T.M.), Children's Hospital of Boston, Boston, Massachusetts 02115.

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http://dx.doi.org/10.1210/jc.2015-3704DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803152PMC
March 2016

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. Epub 2014 Dec 17.

Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.

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http://dx.doi.org/10.1186/1471-2164-15-1127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4378009PMC
December 2014

Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders.

Curr Genet Med Rep 2014 Sep 2;2(3):124-134. Epub 2014 Jul 2.

Harvard Medical School, Boston, MA 02115.

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http://dx.doi.org/10.1007/s40142-014-0047-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6192539PMC
September 2014

Treating the whole person with autism: the proceedings of the Autism Speaks National Autism Conference.

Curr Probl Pediatr Adolesc Health Care 2014 Feb;44(2):26-47

Department of Pediatrics, Vanderbilt University, Nashville, TN; Department of Special Education, Vanderbilt University, Nashville, TN.

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http://dx.doi.org/10.1016/j.cppeds.2013.12.002DOI Listing
February 2014

Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities.

Genet Med 2013 Sep 4;15(9):706-12. Epub 2013 Apr 4.

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

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http://dx.doi.org/10.1038/gim.2013.36DOI Listing
September 2013

Neurologic features of Hutchinson-Gilford progeria syndrome after lonafarnib treatment.

Neurology 2013 Jul 28;81(5):427-30. Epub 2013 Jun 28.

Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1212/WNL.0b013e31829d85c0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776537PMC
July 2013

Recurrent unexplained hyperammonemia in an adolescent with arginase deficiency.

Clin Biochem 2012 Dec 23;45(18):1583-6. Epub 2012 Aug 23.

Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY, USA.

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http://dx.doi.org/10.1016/j.clinbiochem.2012.08.015DOI Listing
December 2012

Whole-genome sequencing: ready for prime time?

Clin Chem 2012 Dec;58(12):1729-30

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http://dx.doi.org/10.1373/clinchem.2012.196543DOI Listing
December 2012

Automated analysis of GPI-deficient leukocyte flow cytometric data using GemStone™.

Cytometry B Clin Cytom 2012 Sep 4;82(5):319-24. Epub 2012 May 4.

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http://dx.doi.org/10.1002/cyto.b.21024DOI Listing
September 2012

Automated analysis of flow cytometric data for CD34+ stem cell enumeration using a probability state model.

Cytometry B Clin Cytom 2012 Sep 11;82(5):313-8. Epub 2012 Jul 11.

Verity Software House, Topsham, Maine 04086, USA.

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http://dx.doi.org/10.1002/cyto.b.21032DOI Listing
September 2012

Oligonucleotide microarrays for clinical diagnosis of copy number variation and zygosity status.

Curr Protoc Hum Genet 2012 Jul;Chapter 8:Unit8.12

Department of Laboratory Medicine, Division of Genetics, Children's Hospital Boston, and Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/0471142905.hg0812s74DOI Listing
July 2012

Chromosomal microarray testing influences medical management.

Genet Med 2011 Sep;13(9):770-6

Division of Genetics, Children's Hospital Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31821dd54aDOI Listing
September 2011

Age- and gender-dependent obesity in individuals with 16p11.2 deletion.

J Genet Genomics 2011 Sep 17;38(9):403-9. Epub 2011 Aug 17.

Department of Laboratory Medicine, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.jgg.2011.08.003DOI Listing
September 2011

Hutchinson-Gilford progeria is a skeletal dysplasia.

J Bone Miner Res 2011 Jul;26(7):1670-9

Division of Adolescent Medicine and Endocrinology, Children's Hospital Boston, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1002/jbmr.392DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5650062PMC
July 2011

Cognitive and behavioral characterization of 16p11.2 deletion syndrome.

J Dev Behav Pediatr 2010 Oct;31(8):649-57

Division of Developmental Medicine, Children's Hospital Boston, Boston, MA 02115, USA.

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https://insights.ovid.com/crossref?an=00004703-201010000-000
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http://dx.doi.org/10.1097/DBP.0b013e3181ea50edDOI Listing
October 2010

Genetic testing for autism: recent advances and clinical implications.

Authors:
David T Miller

Expert Rev Mol Diagn 2010 Oct;10(7):837-40

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http://www.tandfonline.com/doi/full/10.1586/erm.10.82
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http://dx.doi.org/10.1586/erm.10.82DOI Listing
October 2010

Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.

Physiol Genomics 2009 Aug 9;38(3):281-90. Epub 2009 Jun 9.

Department of Otorhinolaryngology Head and Neck Surgery and Genetic Testing Center for Deafness, PLA General Hospital, Beijing, People's Republic of China.

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http://dx.doi.org/10.1152/physiolgenomics.00047.2009DOI Listing
August 2009

Genetic testing for developmental delay: keep searching for an answer.

Clin Chem 2009 Apr;55(4):827-30; discussion 830-2

Department of Laboratory Medicine, Division of Genetics, Neurolinguistics Clinic/Behavioral Neurology in Department of Neurology, Children's Hospital Boston, Boston, MA 02115, USA.

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http://dx.doi.org/10.1373/clinchem.2008.119438DOI Listing
April 2009

SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss.

Genet Med 2008 Aug;10(8):586-92

Department of Otolaryngology and Genetic Testing Center for Deafness, Chinese PLA General Hospital, Beijing, People's Republic of China.

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http://dx.doi.org/10.1097/gim.0b013e31817d2ef1DOI Listing
August 2008

Oligonucleotide microarrays for clinical diagnosis of copy number variation.

Curr Protoc Hum Genet 2008 Jul;Chapter 8:Unit 8.12

Department of Laboratory Medicine, Children's Hospital Boston, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/0471142905.hg0812s58DOI Listing
July 2008

Genetic diagnosis of primary immune deficiencies.

Immunol Allergy Clin North Am 2008 May;28(2):387-412, x

Correlagen Diagnostics, Inc., 307 Waverley Oaks Road, Suite 101, Waltham, MA 02452, USA.

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http://dx.doi.org/10.1016/j.iac.2008.01.004DOI Listing
May 2008

Atherosclerosis: the path from genomics to therapeutics.

J Am Coll Cardiol 2007 Apr 2;49(15):1589-1599. Epub 2007 Apr 2.

Division of Hematology, Brigham and Women's Hospital, Boston, Massachusetts; Donald W. Reynolds Cardiovascular Clinical Research Center on Atherosclerosis at Brigham and Women's Hospital and the Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1016/j.jacc.2006.12.045DOI Listing
April 2007

Lack of Association Between Genetic Variation in 9 Innate Immunity Genes and Baseline CRP Levels.

Ann Hum Genet 2006 Sep;70(5):574-586

Division of Hematology, Brigham and Women's Hospital, Boston, MADivision of Preventive Medicine and Center for Cardiovascular Disease Prevention, Brigham and Women's Hospital, Boston, MADonald W. Reynolds Cardiovascular Clinical Research Center on Atherosclerosis at Harvard Medical School, Boston, MAChanning Laboratory, Brigham and Women's Hospital, Boston, MA.

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http://dx.doi.org/10.1111/j.1469-1809.2005.00256.xDOI Listing
September 2006

A standardized ZAP-70 assay--lessons learned in the trenches.

Cytometry B Clin Cytom 2006 Jul;70(4):276-83

Esoterix Center for Innovation, Brentwood, TN, USA

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http://dx.doi.org/10.1002/cyto.b.20136DOI Listing
July 2006

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

Division of Preventive Medicine, Center for Cardiovascular Disease Prevention, Brigham and Women's Hospital, and Department of Ophthalmology, Schepens Eye Research Institute, Harvard Medical School, Boston, MA 02215, USA.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.0
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http://dx.doi.org/10.1167/iovs.05-1456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1828123PMC
June 2006

Case report: a young boy with painful leg swelling.

Curr Opin Pediatr 2002 Dec;14(6):731-4

Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.

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http://dx.doi.org/10.1097/00008480-200212000-00017DOI Listing
December 2002