Polygenic susceptibility to breast cancer and implications for preventionPHAROAH, Paul D. P; ANTONIOU, Antonis; BOBROW, Martin et al.Nature genetics. 2002, Vol 31, Num 1, pp 33-36, issn 1061-4036Article

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephalyFIELD, Michael; TARPEY, Patrick S; BARTHORPE, Syd et al.American journal of human genetics. 2007, Vol 81, Num 2, pp 367-374, issn 0002-9297, 8 p.Article

Mutations in CUL4b, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremorTARPEY, Patrick S; RAYMOND, F. Lucy; BARTHORPE, Syd et al.American journal of human genetics. 2007, Vol 80, Num 2, pp 345-352, issn 0002-9297, 8 p.Article

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationTARPEY, Patrick S; RAYMOND, F. Lucy; O'MEARA, Sarah et al.Nature genetics. 2007, Vol 39, Num 9, pp 1127-1133, issn 1061-4036, 7 p.Article

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitusRAYMOND, F. Lucy; TARPEY, Patrick S; COLE, Jennifer et al.American journal of human genetics. 2007, Vol 80, Num 5, pp 982-987, issn 0002-9297, 6 p.Article

Numbers or words? A randomized controlled trial of presenting screen negative results to pregnant womenMARTEAU, Theresa M; SAIDI, Guitta; GOODBURN, Sandy et al.Prenatal diagnosis. 2000, Vol 20, Num 9, pp 714-718, issn 0197-3851Article

Mutations in the gene encoding the sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardationTARPEY, Patrick S; STEVENS, Claire; DICKS, Ed et al.American journal of human genetics. 2006, Vol 79, Num 6, pp 1119-1124, issn 0002-9297, 6 p.Article

Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trialMARTEAU, Theresa; SENIOR, Victoria; JACKSON, Zoe et al.American journal of medical genetics. 2004, Vol 128A, Num 3, pp 285-293, issn 0148-7299, 9 p.Article

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardationTARPEY, Patrick; PARNAU, Josep; KORNY, Angelique et al.American journal of human genetics. 2004, Vol 75, Num 2, pp 318-324, issn 0002-9297, 7 p.Article