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Glycobiology|July 18, 2002
Characterization of mycobacterial protein glycosyltransferase activity using synthetic peptide acceptors in a cell-free assayHoward N Cooper, Sudagar S Gurcha, Jérôme Nigou, et al.
Human Mutation|May 6, 2020
5' splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicityJin-Huan Lin, Emmanuelle Masson, Arnaud Boulling, et al.
Human Mutation|March 25, 2011
Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genesDobril Ivanov, Stephen E Hamby, Peter D Stenson, et al.
Bioinformatics (Oxford, England)|January 10, 2015
DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levelsLukas Folkman, Yuedong Yang, Zhixiu Li, et al.
Clinical & Translational Immunology|October 22, 2020
Narrowband UVB phototherapy reduces TNF production by B-cell subsets stimulated via TLR7 from individuals with early multiple sclerosisStephanie Trend, Jonatan Leffler, Matthew N Cooper, et al.
JAMA Network Open|June 8, 2019
Effects of a Patient Activation Tool on Decision Making Between Surgery and Nonoperative Management for Pediatric Appendicitis: A Randomized Clinical TrialPeter C Minneci, Jennifer N Cooper, Karen Leonhart, et al.
JAMA Surgery|November 8, 2023
Laser Epilation as an Adjunct to Standard Care in Reducing Pilonidal Disease Recurrence in Adolescents and Young Adults: A Randomized Clinical TrialPeter C Minneci, Lindsay A Gil, Jennifer N Cooper, et al.
Molecular Genetics and Metabolism|August 8, 2007
Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitisEmmanuelle Masson, Cédric Le Maréchal, Philippe Levy, et al.
Human Mutation|December 30, 2014
Concurrent nucleotide substitution mutations in the human genome are characterized by a significantly decreased transition/transversion ratioWenjuan Zhu, David N Cooper, Qiang Zhao, et al.
Genome Medicine|December 1, 2023
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature setDavid Stein, Meltem Ece Kars, Yiming Wu, et al.
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