Katherine Berry

Charcot‐Marie‐Tooth disease and related neuropathies: Mutation distribution and genotype‐phenotype correlation

Cornelius F. Boerkoel, Hiroshi Takashima, Carlos García et al. · Annals of Neurology · 2001 · 279 citations

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 214 citations

Genetics, Genetic Epidemiology, Pathology +20

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano et al. · Genetics in Medicine · 2018 · 127 citations · Full text

Deletion of the immunoglobulin domain of <i>IL1RAPL1</i> results in nonsyndromic X‐linked intellectual disability associated with behavioral problems and mild dysmorphism

Karl J. Franek, Julia Butler, John P. Johnson et al. · American Journal of Medical Genetics Part A · 2011 · 41 citations

Genetics, Immunology, Disease Gene Identification +19

Influence of Information Framing on Patient Decisions to Treat Actinic Keratosis

Katherine Berry, Melissa Butt, Joslyn S. Kirby · JAMA Dermatology · 2017 · 36 citations · Full text