Neil A. Hanchard

Use of Exome Sequencing for Infants in Intensive Care Units

Linyan Meng, Mohan Pammi, Anirudh Saronwala et al. · JAMA Pediatrics · 2017 · 431 citations · Full text

Medicine, Genetics, Pediatrics +14

High-depth African genomes inform human migration and health

Ananyo Choudhury, Shaun Aron, Laura R. Botigué et al. · Nature · 2020 · 367 citations

Life Sciences, Bioinformatics, Genetics +10

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

Magdalena Koczkowska, Yunjia Chen, Tom Callens et al. · The American Journal of Human Genetics · 2017 · 212 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Rachel Ramoni, John J. Mulvihill, David R. Adams et al. · The American Journal of Human Genetics · 2017 · 188 citations · Full text

Public Health, Biomedical Informatics, Health Informatics +13

Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing

David R. Murdock, Hongzheng Dai, Lindsay C. Burrage et al. · Journal of Clinical Investigation · 2020 · 188 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17