F. Collins

Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene.

H. Dietz, R. Pyeritz, A. Child, 1991, American journal of human genetics.

Prader–Willi syndrome phenocopy due to duplication of Xq21.1–q21.31, with array CGH of the critical region

F. Collins, MT Gabbett, Gb Peters, 2008, Clinical genetics.

Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes.

D. Murphy, S. Antonarakis, A. Reiss, 1992, American journal of medical genetics.

Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome.

S. Antonarakis, L. Tranebjaerg, M. Petersen, 1991, American journal of human genetics.

A new syndrome of familial short stature, small hands, valvular heart disease and a characteristic facies

G. Turner, F. Collins, M. Partington, 1990, Clinical genetics.

General population screening for cystic fibrosis is premature.

B. Wilfond, L. Biesecker, M. Kaback, 1992, American journal of human genetics.