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Genome Medicine|May 14, 2024
The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson's disease comorbidityMeltem Ece Kars, Yiming Wu, Peter D Stenson, et al.
Human Genetics|November 3, 2024
Polymorphic pseudogenes in the human genome - a comprehensive assessmentMónica Lopes-Marques, M João Peixoto, David N Cooper, et al.
The Journal of Surgical Research|May 27, 2017
How to identify high radiation burden from computed tomography: an example in obese childrenDaniel L Lodwick, Jennifer N Cooper, Brent Adler, et al.
Blood|July 26, 2003
A rare complex DNA rearrangement in the murine Steel gene results in exon duplication and a lethal phenotypeSaurabh Chandra, Reuben Kapur, Nadia Chuzhanova, et al.
Expert Review of Molecular Diagnostics|February 29, 2012
Technological advances in DNA sequence enrichment and sequencing for germline genetic diagnosisChee-Seng Ku, Mengchu Wu, David N Cooper, et al.
Human Genetics|June 25, 2013
MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structuresNoushin Niknafs, Dewey Kim, Ryangguk Kim, et al.
BMC Bioinformatics|May 9, 2008
Reconstructing networks of pathways via significance analysis of their intersectionsMirko Francesconi, Daniel Remondini, Nicola Neretti, et al.
Autism Research : Official Journal of the International Society for Autism Research|January 20, 2017
Evidence of a reduction over time in the behavioral severity of autistic disorder diagnosesAndrew J O Whitehouse, Matthew N Cooper, Keely Bebbington, et al.
Clinical Genetics|October 27, 1998
Three novel PROC gene lesions causing protein C deficiencyP J Hallam, P Mannucci, A Tripodi, et al.
AMIA ... Annual Symposium Proceedings. AMIA Symposium|May 26, 2025
Antimicrobial Resistance Patterns in an Urban County: a Spatiotemporal ExplorationTanvi A Ingle, Lauren N Cooper, Alaina M Beauchamp, et al.
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