David T Miller
Affiliation: Harvard University
- Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yieldJuan Geng
Department of Laboratory Medicine, Shanghai Children s Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China
BMC Genomics 15:1127. 2014..Furthermore, genes encompassed in pathogenic/likely pathogenic CNVs were prioritized by integrating several tools and public data sources for novel CHD candidate gene identification...
- Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesDavid T Miller
Division of Genetics and Department of Laboratory Medicine, Children s Hospital Boston and Harvard Medical School, Boston, MA, USA
Am J Hum Genet 86:749-64. 2010..G-banded karyotype analysis should be reserved for patients with obvious chromosomal syndromes (e.g., Down syndrome), a family history of chromosomal rearrangement, or a history of multiple miscarriages...
- A prospective assessment of the Y402H variant in complement factor H, genetic variants in C-reactive protein, and risk of age-related macular degenerationDebra A Schaumberg
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
Invest Ophthalmol Vis Sci 47:2336-40. 2006..Although plasma CRP levels have been related to AMD and plasma CRP levels are partly determined by genetic variation, there is no information on whether genetic variants in CRP are associated with AMD...
- Oligonucleotide microarrays for clinical diagnosis of copy number variation and zygosity statusDavid T Miller
Department of Laboratory Medicine, Division of Genetics, Children s Hospital Boston, and Harvard Medical School, Boston, Massachusetts, USA
Curr Protoc Hum Genet . 2012..Most clinical laboratories now offer arrays with some level of probe coverage throughout the genome, and many are offering detection of LCSH. Updated guidelines for array design and result interpretation are reviewed...
- Lack of association between genetic variation in 9 innate immunity genes and baseline CRP levelsPiotr Kozlowski
Division of Hematology, Brigham and Women s Hospital, Boston, MA 02115, USA
Ann Hum Genet 70:574-86. 2006....
- Association between microdeletion and microduplication at 16p11.2 and autismLauren A Weiss
Autism Consortium, Boston, USA
N Engl J Med 358:667-75. 2008..Autism spectrum disorder is a heritable developmental disorder in which chromosomal abnormalities are thought to play a role...
- Oligonucleotide microarrays for clinical diagnosis of copy number variationDavid T Miller
Department of Laboratory Medicine, Children s Hospital Boston, Boston, Massachusetts, USA
Curr Protoc Hum Genet . 2008..e., targeted versus whole genome). Array platform influences the likelihood of detecting variants of unknown significance. Clinical interpretation of such variants is discussed...
- Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalanceYiping Shen
Department of Laboratory Medicine, Children s Hospital Boston, Boston, MA 02115, USA
Clin Chem 53:2051-9. 2007..We report the design and validation of a focused oligonucleotide-array CGH assay for clinical laboratory diagnosis of genomic imbalance...
- Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disordersMichael S L Ching
Division of Developmental Medicine, Children s Hospital Boston, Boston, Massachusetts 02115, USA
Am J Med Genet B Neuropsychiatr Genet 153:937-47. 2010..Our study indicates that deletions of NRXN1 predispose to a wide spectrum of developmental disorders...
- Clinical genetic testing for patients with autism spectrum disordersYiping Shen
Autism Consortium, Boston, Massachusetts, USA
Pediatrics 125:e727-35. 2010..Current guidelines for clinical genetic testing recommend a G-banded karyotype to detect chromosomal abnormalities and fragile X DNA testing, but guidelines for chromosomal microarray analysis have not been established...