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Godler, DE, Slater, HR, Amor, D, Loesch, DZ.
Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome.
Genetics in Medicine
12(9)
:
595 -595
2010
view publication
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Stark, Z, Bruno, DL, Mountford, H, Lockhart, PJ, Amor, DJ.
De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features.
European Journal of Medical Genetics
53(5)
:
337 -339
2010
view publication
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Tan, T, Gordon, C, Amor, D, Farlie, P.
Developmental perspectives on copy number abnormalities of the 22q11.2 region.
Clinical Genetics
78(3)
:
201 -218
2010
view publication
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Traylor, RN, Bruno, DL, Burgess, T, Wildin, R, Spencer, A, Ganesamoorthy, D, Amor, DJ, Hunter, M, Caplan, M, Rosenfeld, JA, et al.
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33..
PLoS One
5(8)
:
e12462
2010
view publication
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Jaques, AM, Collins, VR, Muggli, EE, Amor, DJ, Francis, I, Sheffield, LJ, Halliday, JL.
Uptake of prenatal diagnostic testing and the effectiveness of prenatal screening for Down syndrome.
Prenatal Diagnosis
30(6)
:
522 -530
2010
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