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Amor, DJ, Burgess, T, Tan, TY, Pertile, MD.
Questionable pathogenicity of FOXG1 duplication..
Eur J Hum Genet
20(6)
:
595 -596
2012
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Harakalova, M, van Harssel, JJT, Terhal, PA, van Lieshout, S, Duran, K, Renkens, I, Amor, DJ, Wilson, LC, Kirk, EP, Turner, CLS, et al.
Dominant missense mutations in ABCC9 cause Cantú syndrome..
Nat Genet
44(7)
:
793 -796
2012
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Godler, DE, Slater, HR, Bui, QM, Storey, E, Ono, MY, Gehling, F, Inaba, Y, Francis, D, Hopper, JL, Kinsella, G, et al.
Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study..
Clin Chem
58(3)
:
590 -598
2012
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Mefford, HC, Rosenfeld, JA, Shur, N, Slavotinek, AM, Cox, VA, Hennekam, RC, Firth, HV, Willatt, L, Wheeler, P, Morrow, EM, et al.
Further clinical and molecular delineation of the 15q24 microdeletion syndrome..
J Med Genet
49(2)
:
110 -118
2012
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Amor, D.
Genetic Counselling.
203 -214
2012
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