S. Thibodeau

Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome

K. Davies, R. Winter, P. Jacobs, 1991, Cell.

Multilocus analysis of the fragile X syndrome

C. Schwartz, W. Brown, M. Krawczak, 1988, Human Genetics.

Analysis of mutations at the fragile X locus using the DNA probe Ox1.9.

K. Davies, R. Hagerman, K. Snow, 1992, American journal of medical genetics.

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study.

Katherine M. Tucker, Aung Ko Win, Swati G. Patel, 2021, The Lancet. Oncology.

First genotype characterization of Argentinean FAP patients: Identification of 14 novel APCmutations

K. Halling, E. Podesta, P. Izzo, 2004, Human mutation.

FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy.

M. Farrer, A. Dürr, A. Brice, 2005, Archives of neurology.

BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing

L. Aaltonen, S. Thibodeau, R. Hofstra, 2004, Journal of Medical Genetics.