-
Yeung, A, Francis, D, Giouzeppos, O, Amor, DJ.
Pallister–Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p.
American Journal of Medical Genetics Part A
149A(3)
:
505 -509
2009
view publication
-
Bijlsma, EK, Gijsbers, ACJ, Schuurs-Hoeijmakers, JHM, van Haeringen, A, van de Putte, DEF, Anderlid, B-M, Lundin, J, Lapunzina, P, Jurado, LAP, Delle Chiaie, B, et al.
Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals.
European Journal of Medical Genetics
52(2-3)
:
77 -87
2009
view publication
-
Bruno, DL, Ganesamoorthy, D, Schoumans, J, Bankier, A, Coman, D, Delatycki, M, Gardner, RJM, Hunter, M, James, PA, Kannu, P, et al.
Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.
Journal of Medical Genetics
46(2)
:
123
2009
view publication
-
Amor, DJ.
Imprinting, Small Babies and Assisted Reproduction: Genomic imprinting, small babies and assisted reproduction.
European Journal of Human Genetics
17(1)
:
1 -2
2009
view publication
-
Amor, DJ, Halliday, J.
A review of known imprinting syndromes and their association with assisted reproduction technologies.
Human Reproduction
23(12)
:
2826 -2834
2008
view publication