P. Duncan

Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype–phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy

A. Collins, D. Bunyan, C. Turner, 2009, American journal of medical genetics. Part A.

Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6

M. Castori, P. Grammatico, L. Laino, 2009, American journal of medical genetics. Part A.

Economic and Practical Factors in Diagnosing HNPCC Using Clinical Criteria, Immunohistochemistry and Microsatellite Instability Analysis

D. Eccles, A. Bateman, F. Pigatto, 2004, Hereditary cancer in clinical practice.

Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification

D. Eccles, N. S. Thomas, N. Cross, 2004, British Journal of Cancer.

A Novel Missense Mutation in Dax-1 with an Unusual Presentation of X-Linked Adrenal Hypoplasia Congenita

J. Tolmie, J. Achermann, Lin Lin, 2007, Hormone Research in Paediatrics.

Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities

Shuwen Huang, V. Maloney, A. Collins, 2018, American journal of medical genetics. Part A.