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McClaren, BJ, Aitken, M, Massie, J, Amor, D, Ukoumunne, OC, Metcalfe, SA.
Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing.
Genetics in Medicine
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2013
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Heath, JA, Ng, J, Beshay, V, Coleman, L, Lo, P, Amor, DJ.
Anaplastic oligodendroglioma in an adolescent with Lynch syndrome.
Pediatric Blood & Cancer
60(6)
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e13 -e15
2013
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Risheg, H, Pasion, R, Sacharow, S, Proud, V, Immken, L, Schwartz, S, Tepperberg, JH, Papenhausen, P, Tan, TY, Andrieux, J, et al.
Clinical Comparison of Overlapping Deletions of 19p13.3.
American Journal of Medical Genetics Part A
161(5)
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1110 -1116
2013
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Godler, DE, Inaba, Y, Shi, EZ, Skinner, C, Bui, QM, Francis, D, Amor, DJ, Hopper, JL, Loesch, DZ, Hagerman, RJ, et al.
Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty.
Human Molecular Genetics
22(8)
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1516 -1524
2013
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Inaba, Y, Herlihy, AS, Schwartz, CE, Skinner, C, Bui, QM, Cobb, J, Shi, EZ, Francis, D, Arvaj, A, Amor, DJ, et al.
Fragile X–related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study.
Genetics in Medicine
15(4)
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290 -298
2013
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