Helen Kingston

Corneal confocal microscopy detects small‐fiber neuropathy in Charcot–Marie–Tooth disease type 1A patients

Mitra Tavakoli, Siddharth Banka, S. Banka, 2012, Muscle & nerve.

Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements

Sofia Douzgou, Jill Clayton-Smith, W. Reardon, 2017, Journal of Pediatric Genetics.

Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.

Dian Donnai, Leslie G Biesecker, Dan Hanson, 2011, American journal of human genetics.

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Andreas Roos, Francesco Muntoni, Rita Barresi, 2017, American journal of human genetics.