John Tolmie

"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.

J. Tolmie, Y. Crow, S. Zuberi, 1998, Journal of medical genetics.

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

D. Gisselsson, S. Hanks, Elise Ruark, 2011, Nature Genetics.

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

N. Rahman, D. Gisselsson, J. Clayton-Smith, 2011, Nature Genetics.

Recurrence risks in mental retardation.

Y. Crow, John Tolmie, 1998, Journal of medical genetics.

A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early‐onset neurohypophyseal diabetes insipidus

N. Gregersen, S. Rittig, G. Shaikh, 2013, Clinical genetics.