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Plos One|September 11, 2013
Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutationStefano Regis, Fabio Corsolini, Serena Grossi, et al.
Nature Reviews. Genetics|September 12, 2007
Gene conversion: mechanisms, evolution and human diseaseJian-Min Chen, David N Cooper, Nadia Chuzhanova, et al.
Genome Research|July 14, 2011
Loss of exon identity is a common mechanism of human inherited diseaseTimothy Sterne-Weiler, Jonathan Howard, Matthew Mort, et al.
Human Mutation|August 26, 2003
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifsShaun S Abeysinghe, Nadia Chuzhanova, Michael Krawczak, et al.
Plos One|August 17, 2013
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 French patientsEmmanuelle Masson, Jian-Min Chen, Marie-Pierre Audrézet, et al.
Human Genetics|July 4, 2013
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited diseaseDavid N Cooper, Michael Krawczak, Constantin Polychronakos, et al.
Human Mutation|July 19, 2012
Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) geneLaura Thomas, Mark Richards, Matthew Mort, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|January 10, 2020
Intrinsic Measures and Shape Analysis of the Intratemporal Facial NerveThomas J Hudson, Bradley Gare, Daniel G Allen, et al.
BMC Genomics|March 25, 2004
Functional classes of bronchial mucosa genes that are differentially expressed in asthmaCatherine Laprise, Robert Sladek, André Ponton, et al.
The Journal of Investigative Dermatology|August 25, 2005
Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1Claudia Consoli, Celia Moss, Stuart Green, et al.
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