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Mary E. Schwartz

First-in-human Mutation-targeted siRNA Phase Ib Trial of an Inherited Skin Disorder
2009 · Sancy A Leachman, Robyn P Hickerson, et al. · Molecular Therapy · 265
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A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita
2012 · Mark J. Eliason, Sancy A. Leachman, et al. · Journal of the American Academy of Dermatology · 149
Pachyonychia Congenita in Pediatric Patients
2013 · Sonal Shah, Monica Boen, et al. · JAMA Dermatology · 82
A Large Mutational Study in Pachyonychia Congenita
2011 · Neil J. Wilson, Sancy A. Leachman, et al. · Journal of Investigative Dermatology · 75
Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads
2015 · Zhimiao Lin, Jiahui Zhao, et al. · The American Journal of Human Genetics · 53
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Gene expression profiling in pachyonychia congenita skin
2015 · Yu-An Cao, Robyn P. Hickerson, et al. · Journal of Dermatological Science · 39
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Genotype–Phenotype Correlations among Pachyonychia Congenita Patients with K16 Mutations
2010 · Teresa Fu, Sancy A. Leachman, et al. · Journal of Investigative Dermatology · 33
Expanding the Phenotypic Spectrum of Olmsted Syndrome
2015 · Neil J. Wilson, Christian Cole, et al. · Journal of Investigative Dermatology · 31
Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay
2018 · Olivier Duverger, Jenna C. Carlson, et al. · PLoS Genetics · 25
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Peripheral neuropathic changes in pachyonychia congenita
2016 · Baohan Pan, Kelly Byrnes, et al. · Pain · 24
Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy—Expanding the differential diagnosis for pachyonychia congenita
2013 · Neil J. Wilson, C. David Hansen, et al. · Journal of Dermatological Science · 23
Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
2012 · Neil J. Wilson, Mónica L. Cárdenas Pérez, et al. · Journal of Investigative Dermatology · 22
Toward a Treatment for Pachyonychia Congenita: Report on the 7th Annual International Pachyonychia Congenita Consortium Meeting
2011 · Roger L. Kaspar, Sancy A. Leachman, et al. · Journal of Investigative Dermatology · 15
Achieving Successful Delivery of Nucleic Acids to Skin: 6th Annual Meeting of the International Pachyonychia Congenita Consortium
2009 · Roger L. Kaspar, W.H. Irwin McLean, et al. · Journal of Investigative Dermatology · 13
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Proteomic profiling of Pachyonychia congenita plantar callus
2017 · Robert H. Rice, Blythe P. Durbin-Johnson, et al. · Journal of Proteomics · 12
Nociceptin/orphanin FQ opioid peptide‐receptor expression in pachyonychia congenita
2018 · Baohan Pan, Wolfgang Schröder, et al. · Journal of the Peripheral Nervous System · 11
Nail removal in pachyonychia congenita: Patient-reported survey outcomes
2017 · Cynthia Marie Carver DeKlotz, Mary E. Schwartz, et al. · Journal of the American Academy of Dermatology · 9
PCQoL
2015 · Mariam Abbas, Mary E. Schwartz, et al. · Journal of Cutaneous Medicine and Surgery · 9
Pachyonychia Congenita Project
2013 · Mary E. Schwartz, Gail M. Zimmerman, et al. · Journal of the Dermatology Nurses’ Association · 9
Realizing Our Potential in Biobanking: Disease Advocacy Organizations Enliven Translational Research
2016 · Kelly A. Edwards, Sharon F. Terry, et al. · Biopreservation and Biobanking · 7
First case of pachyonychia congenita in the Czech Republic
2014 · Anna Jiráková, Lucie Rajská, et al. · Dermatologic Therapy · 4
Report of the 10th Annual International Pachyonychia Congenita Consortium Meeting
2014 · Maurice A.M. van Steensel, Pierre A. Coulombe, et al. · Journal of Investigative Dermatology · 4
Correction: Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay
2019 · Olivier Duverger, Jenna C. Carlson, et al. · PLoS Genetics · 2
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Pachyonychia congenita: An overview
2014 · Mary Schwartz, C. David Hansen, et al. · Discovery Research Portal (University of Dundee) · 2
Table 2. [International Pachyonychia Congenita Research Registry (IPCRR) Data Summary as of 30 March 2014].
2014 · Frances J.D. Smith, C. David Hansen, et al. · 1
Works count: 35
Citation count: 920
H-index: 13
I10-index: 16
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