Gene Conversion in Human Genetic Disease

by Jian-Min Chen, David N. Cooper, Claude Férec
Published 2010-12-01

Mechanisms of Base Substitution Mutagenesis in Cancer Genomes

by Albino Bacolla, David N. Cooper, Karen M. Vasquez
Published 2014-03-01

LINE-1 Endonuclease-Dependent Retrotranspositional Events Causing Human Genetic Disease: Mutation Detection Bias and Multiple Mechanisms of Target Gene Disruption

by Jian-Min Chen, Claude Férec, David N. Cooper
Published 2006-01-01

Mutations Causing Complex Disease May under Certain Circumstances Be Protective in an Epidemiological Sense.

by Sabine Siegert, Andreas Wolf, David N Cooper, Michael Krawczak, Michael Nothnagel
Published 2015-01-01

The NF1 somatic mutational landscape in sporadic human cancers

by Charlotte Philpott, Hannah Tovell, Ian M. Frayling, David N. Cooper, Meena Upadhyaya
Published 2017-06-01

Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation.

by Stefano Regis, Fabio Corsolini, Serena Grossi, Barbara Tappino, David N Cooper, Mirella Filocamo
Published 2013-01-01

A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young Fren...

by Emmanuelle Masson, Jian-Min Chen, Marie-Pierre Audrézet, David N Cooper, Claude Férec
Published 2013-01-01

Prioritization of schizophrenia risk genes from GWAS results by integrating multi-omics data

by Dan He, Cong Fan, Mengling Qi, Yuedong Yang, David N. Cooper, Huiying Zhao
Published 2021-03-01

Role of the Common <i>PRSS1-PRSS2</i> Haplotype in Alcoholic and Non-Alcoholic Chronic Pancreatitis: Meta- and Re-Analyses

by Anthony F. Herzig, Emmanuelle Génin, David N. Cooper, Emmanuelle Masson, Claude Férec, Jian-Min Chen
Published 2020-11-01

Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review

by Jian-Min Chen, Anthony F. Herzig, Emmanuelle Génin, Emmanuelle Masson, David N. Cooper, Claude Férec
Published 2021-03-01

Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene Assay

by Hao Wu, Arnaud Boulling, David N. Cooper, Zhao-Shen Li, Zhuan Liao, Claude Férec, Jian-Min Chen
Published 2017-10-01

Deciphering next-generation pharmacogenomics: an information technology perspective

by George Potamias, Kleanthi Lakiotaki, Theodora Katsila, Ming Ta Michael Lee, Stavros Topouzis, David N. Cooper, George P. Patrinos
Published 2014-01-01

An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome

by Michael Ferlaino, Mark F. Rogers, Hashem A. Shihab, Matthew Mort, David N. Cooper, Tom R. Gaunt, Colin Campbell
Published 2017-10-01

In silico prioritization and further functional characterization of SPINK1 intronic variants

by Wen-Bin Zou, Hao Wu, Arnaud Boulling, David N. Cooper, Zhao-Shen Li, Zhuan Liao, Jian-Min Chen, Claude Férec
Published 2017-05-01

Application of Economic Evaluation to Assess Feasibility for Reimbursement of Genomic Testing as Part of Personalized Medicine Interventions

by Stavros Simeonidis, Stefania Koutsilieri, Athanassios Vozikis, David N. Cooper, Christina Mitropoulou, George P. Patrinos, George P. Patrinos, George P. Patrinos
Published 2019-08-01

The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease.

by Jose Lugo-Martinez, Vikas Pejaver, Kymberleigh A Pagel, Shantanu Jain, Matthew Mort, David N Cooper, Sean D Mooney, Predrag Radivojac
Published 2016-08-01

The sequencing and interpretation of the genome obtained from a Serbian individual.

by Wazim Mohammed Ismail, Kymberleigh A Pagel, Vikas Pejaver, Simo V Zhang, Sofia Casasa, Matthew Mort, David N Cooper, Matthew W Hahn, Predrag Radivojac
Published 2018-01-01

Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome.

by Kymberleigh A Pagel, Danny Antaki, AoJie Lian, Matthew Mort, David N Cooper, Jonathan Sebat, Lilia M Iakoucheva, Sean D Mooney, Predrag Radivojac
Published 2019-06-01

Compound Heterozygosity for Novel Truncating Variants in the LMOD3 Gene as the Cause of Polyhydramnios in Two Successive Fetuses

by Ye Wang, Caixia Zhu, Liu Du, Qiaoer Li, Mei-Fang Lin, Claude Férec, Claude Férec, David N. Cooper, Jian-Min Chen, Yi Zhou
Published 2019-09-01

Nucleotide Weight Matrices Reveal Ubiquitous Mutational Footprints of AID/APOBEC Deaminases in Human Cancer Genomes

by Igor B. Rogozin, Abiel Roche-Lima, Artem G. Lada, Frida Belinky, Ivan A. Sidorenko, Galina V. Glazko, Vladimir N. Babenko, David N. Cooper, Youri I. Pavlov
Published 2019-02-01