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Stem Cell Research|February 8, 2026
Generation of two tetracycline-inducible NGN2 iN iPSC lines carrying a heterozygous floating-Harbor syndrome SRCAP truncating mutationInbal Kantor, Jordan L Wright, David J Amor, et al.
Prenatal Diagnosis|February 25, 2020
Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencingDavid J Amor, Lyn S Chitty, Ignatia B Van den Veyver
Trends in Cell Biology|July 13, 2004
Building the centromere: from foundation proteins to 3D organizationDavid J Amor, Paul Kalitsis, Huseyin Sumer, et al.
BMC Clinical Pathology|June 10, 2009
Improved methodology for assessment of mRNA levels in blood of patients with FMR1 related disordersDavid E Godler, Danuta Z Loesch, Richard Huggins, et al.
The Australian & New Zealand Journal of Obstetrics & Gynaecology|November 2, 2020
Factors influencing medical practitioner participation in population carrier screening for cystic fibrosisGiulia M Valente, David J Amor, Liane J Ioannou, et al.
American Journal of Medical Genetics. Part A|May 7, 2016
"I'm Healthy, It's Not Going To Be Me": Exploring experiences of carriers identified through a population reproductive genetic carrier screening panel in AustraliaCatherine A Beard, David J Amor, Louisa Di Pietro, et al.
European Journal of Human Genetics : EJHG|February 10, 2012
An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practiceGemma R Brett, Sylvia A Metcalfe, David J Amor, et al.
JAMA Network Open|January 4, 2022
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic WorkflowDavid E Godler, Ling Ling, Dinusha Gamage, et al.
Brain Imaging and Behavior|July 27, 2018
Reduced caudate volume and cognitive slowing in men at risk of fragile X-associated tremor ataxia syndromeRachael C Cvejic, Darren R Hocking, Wei Wen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 13, 2012
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 studyYoshimi Inaba, Amy S Herlihy, Charles E Schwartz, et al.
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