William Reardon

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis

Peter J. Scambler, Andrea Superti-Furga, P. Scambler, 1998, Nature Genetics.

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.

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

Juliane Hoyer, Alexander Dreweke, Alfredo Orrico, 2007, American journal of human genetics.

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

Joseph Sack, Ethylin Wang Jabs, Amit V Pandey, 2005, American journal of human genetics.

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

Sue Malcolm, Paul Rutland, W. Reardon, 1994, Nature Genetics.

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

Andrei L. Turinsky, Michael Brudno, Raveen Basran, 2017, American journal of human genetics.

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

David E. Housman, J. David Brook, Peter S. Harper, 1992, Nature.

Mutations in PIK3R1 cause SHORT syndrome.

Sahar Mansour, Kym M Boycott, Dennis E Bulman, 2013, American journal of human genetics.