-
Savarirayan, R, White, SM, Goodman, FR, Graham, JM, Delatycki, MB, Lachman, RS, Rimoin, DL, Everman, DB, Warman, ML.
Broad phenotypic spectrum caused by an identical heterozygous CDMP‐1 mutation in three unrelated families.
American Journal of Medical Genetics Part A
117A(2)
:
136 -142
2003
view publication
-
Lower, KM, Turner, G, Kerr, BA, Mathews, KD, Shaw, MA, Gedeon, ÁK, Schelley, S, Hoyme, HE, White, SM, Delatycki, MB, et al.
Mutations in PHF6 are associated with Börjeson–Forssman –Lehmann syndrome.
Nature Genetics
32(4)
:
661 -665
2002
view publication
-
Everman, DB, Bartels, CF, Yang, Y, Yanamandra, N, Goodman, FR, Mendoza‐Londono, JR, Savarirayan, R, White, SM, Graham, JM, Gale, RP, et al.
The mutational spectrum of brachydactyly type C.
American Journal of Medical Genetics
112(3)
:
291 -296
2002
view publication
-
White, SM, Lucassen, A, Norbury, G.
Cystic fibrosis: A further case of an asymptomatic compound heterozygote.
American Journal of Medical Genetics
103(4)
:
342 -343
2001
view publication
-
de Vries, BB, White, SM, Knight, SJ, Regan, R, Homfray, T, Young, ID, Super, M, McKeown, C, Splitt, M, Quarrell, OW, et al.
Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.
Journal of Medical Genetics
38(3)
:
145
2001
view publication