Citation Impact
Citing Papers
Mechanisms, regulation and functions of the unfolded protein response
2020 Standout
Population frequencies of inherited neuromuscular diseases—A world survey
1991 Standout
Molecular analysis of insertion/deletion mutations in protein 4.1 in elliptocytosis. II. Determination of molecular genetic origins of rearrangements.
1990 StandoutNobel
MRC Centre for Neuromuscular Diseases 1st (1st December 2010), and 2nd (2nd May 2012) myotonic dystrophy workshops, London, UK and the myotonic dystrophy standards of care and national registry meeting, Newcastle, UK July 2011
2013
Prevalence of Muscular Dystrophies: A Systematic Literature Review
2014 Standout
The Unfolded Protein Response: Detecting and Responding to Fluctuations in the Protein-Folding Capacity of the Endoplasmic Reticulum
2019
The myotonic dystrophies: diagnosis and management
2010
A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes
1990 StandoutNature
Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes
1987
Facioscapulohumeral muscular dystrophy
2013
Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis
1987
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy
1986 Nature
Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
1987 Standout
Hot spot of recombination within DXS164 in the Duchenne muscular dystrophy gene.
1989
A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma
1986 StandoutNature
Long-range restriction map around the Duchenne muscular dystrophy gene
1986 Nature
Works of D.E. Wilcox being referenced
X-linked and FSH dystrophies in one family
1991
123rd ENMC International Workshop: Management and Therapy in Myotonic Dystrophy, 6–8 February 2004, Naarden, The Netherlands
2005
Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity
2012
Multipoint linkage analysis of the short arm of the human X chromosome in families with X-linked muscular dystrophy
1985
Duchenne muscular dystrophy due to familial Xp21 deletion detectable by DNA analysis and flow cytometry
1986