Matthew N. Bainbridge
Children’s Institute(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetic factors in colorectal cancer, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics
Most-Cited Works
- → Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders(2013)1,960 cited
- → Genome-wide profiles of STAT1 DNA association using chromatin immunoprecipitation and massively parallel sequencing(2007)1,480 cited
- → Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing(2014)1,387 cited
- → Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy(2010)763 cited
- → Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization(2018)447 cited
- → Profiling the HeLa S3 Transcriptome using Randomly Primed cDNA and Massively Parallel Short-Read Sequencing(2008)408 cited
- → Whole-Genome Sequencing for Optimized Patient Management(2011)300 cited
- → FindPeaks 3.1: a tool for identifying areas of enrichment from massively parallel short-read sequencing technology(2008)270 cited
- → Molecular diagnostic experience of whole-exome sequencing in adult patients(2015)238 cited
- → Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway(2014)236 cited