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David T. Miller

Boston Children's Hospital(US)

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195

Papers

15.2K

Citations

53

h-index

105

i10-index

David T. Miller is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Genomics and Rare Diseases & Genomic variations and chromosomal abnormalities & Neurofibromatosis and Schwannoma Cases. The author has an h-index of 53, co-authored 166 publications.

ORCID: 0000-0003-1060-1945

Research Topics

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Neurofibromatosis and Schwannoma Cases Congenital heart defects research Nuclear physics research studies

Papers by this author

works

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

2010 · The American Journal of Human Genetics · 2,835 citations

https://doi.org/10.1016/j.ajhg.2010.04.006

David T. Miller Margaret P Adam Swaroop Aradhya Leslie G. Biesecker

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

2019 · Genetics in Medicine · 703 citations

https://doi.org/10.1038/s41436-019-0554-6

Siddharth Srivastava Jamie Love‐Nichols Kira A. Dies David H. Ledbetter

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)

2021 · Genetics in Medicine · 244 citations

https://doi.org/10.1038/s41436-021-01171-4

David T. Miller Kristy Lee Allan Gordon Laura M. Amendola

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

2017 · The American Journal of Human Genetics · 203 citations

https://doi.org/10.1016/j.ajhg.2017.12.001

Magdalena Koczkowska Yunjia Chen Tom Callens Alicia Gomes

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

2020 · Genetics in Medicine · 94 citations

https://doi.org/10.1038/s41436-020-0771-z

Jennifer Malinowski David T. Miller Laurie Demmer Jennifer Gannon

Regulation of EGF receptor signaling establishes pattern across the developing <i>Drosophila</i> retina

1998 · Development · 90 citations

https://doi.org/10.1242/dev.125.23.4777

Susan Spencer Patricia A. Powell David T. Miller Ross Cagan

Research topics

topics

Genomics and Rare Diseases

Genomic variations and chromosomal abnormalities

Neurofibromatosis and Schwannoma Cases

Congenital heart defects research

Nuclear physics research studies

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