Imprinting, Small Babies and Assisted Reproduction: Genomic imprinting, small babies and assisted reproduction

Por Amor, David J
Publicado em 2009

Neocentromeres: Role in Human Disease, Evolution, and Centromere Study

Por Amor, David J., Choo, K. H. Andy
Publicado em 2002

Clinical utility gene card for: 16p12.2 microdeletion

Por Pizzo, Lucilla, Andrieux, Joris, Amor, David J, Girirajan, Santhosh
Publicado no Eur J Hum Genet (2017)

Questionable pathogenicity of FOXG1 duplication

Por Amor, David J, Burgess, Trent, Tan, Tiong Y, Pertile, Mark D
Publicado em 2012

An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice

Por Brett, Gemma R, Metcalfe, Sylvia A, Amor, David J, Halliday, Jane L
Publicado em 2012

Availability of treatment drives decisions of genetic health professionals about disclosure of incidental findings

Por Turbitt, Erin, Wiest, Michelle M, Halliday, Jane L, Amor, David J, Metcalfe, Sylvia A
Publicado em 2014

Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome

Por Hudson, Damien F., Amor, David J., Boys, Amber, Butler, Kathy, Williams, Lorna, Zhang, Tao, Kalitsis, Paul
Publicado no PLoS Genet (2016)

Human centromere repositioning “in progress”

Por Amor, David J., Bentley, Karen, Ryan, Jacinta, Perry, Jo, Wong, Lee, Slater, Howard, Choo, K. H. Andy
Publicado em 2004

Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening

Por McClaren, Belinda J, Metcalfe, Sylvia A, Aitken, MaryAnne, Massie, R John, Ukoumunne, Obioha C, Amor, David J
Publicado em 2010

FMR1 Intron 1 Methylation Predicts FMRP Expression in Blood of Female Carriers of Expanded FMR1 Alleles

Por Godler, David E., Slater, Howard R., Bui, Quang M., Ono, Michele, Gehling, Freya, Francis, David, Amor, David J., Hopper, John L., Hagerman, Randi, Loesch, Danuta Z.
Publicado em 2011

Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency

Por Amor, David J., Marsh, Ashley P.L., Storey, Elsdon, Tankard, Rick, Gillies, Greta, Delatycki, Martin B., Pope, Kate, Bromhead, Catherine, Leventer, Richard J., Bahlo, Melanie, Lockhart, Paul J.
Publicado no Neurol Genet (2016)

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

Por Smith, Katherine R, Bromhead, Catherine J, Hildebrand, Michael S, Shearer, A Eliot, Lockhart, Paul J, Najmabadi, Hossein, Leventer, Richard J, McGillivray, George, Amor, David J, Smith, Richard J, Bahlo, Melanie
Publicado em 2011

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 t...

Por Godler, David E., Inaba, Yoshimi, Shi, Elva Z., Skinner, Cindy, Bui, Quang M., Francis, David, Amor, David J., Hopper, John L., Loesch, Danuta Z., Hagerman, Randi J., Schwartz, Charles E., Slater, Howard R.
Publicado em 2013

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR

Por Leventer, Richard J., Scerri, Thomas, Marsh, Ashley P.L., Pope, Kate, Gillies, Greta, Maixner, Wirginia, MacGregor, Duncan, Harvey, A. Simon, Delatycki, Martin B., Amor, David J., Crino, Peter, Bahlo, Melanie, Lockhart, Paul J.
Publicado no Neurology (2015)

A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33

Por Traylor, Ryan N., Bruno, Damien L., Burgess, Trent, Wildin, Robert, Spencer, Anne, Ganesamoorthy, Devika, Amor, David J., Hunter, Matthew, Caplan, Michael, Rosenfeld, Jill A., Theisen, Aaron, Torchia, Beth S., Shaffer, Lisa G., Ballif, Blake C., Slater, Howard R.
Publicado em 2010

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis

Por Godler, David E., Inaba, Yoshimi, Schwartz, Charles E., Bui, Quang M., Shi, Elva Z., Li, Xin, Herlihy, Amy S., Skinner, Cindy, Hagerman, Randi J., Francis, David, Amor, David J., Metcalfe, Sylvia A., Hopper, John L., Slater, Howard R.
Publicado no Expert Rev Mol Med (2015)

Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis

Por Mill, Pleasantine, Lockhart, Paul J., Fitzpatrick, Elizabeth, Mountford, Hayley S., Hall, Emma A., Reijns, Martin A.M., Keighren, Margaret, Bahlo, Melanie, Bromhead, Catherine J., Budd, Peter, Aftimos, Salim, Delatycki, Martin B., Savarirayan, Ravi, Jackson, Ian J., Amor, David J.
Publicado em 2011

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome

Por Wilson, Gabrielle R, Sunley, Jasmine, Smith, Katherine R, Pope, Kate, Bromhead, Catherine J, Fitzpatrick, Elizabeth, Di Rocco, Maja, van Steensel, Maurice, Coman, David J, Leventer, Richard J, Delatycki, Martin B, Amor, David J, Bahlo, Melanie, Lockhart, Paul J
Publicado em 2014

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

Por Marsh, Ashley P.L., Lukic, Vesna, Pope, Kate, Bromhead, Catherine, Tankard, Rick, Ryan, Monique M., Yiu, Eppie M., Sim, Joe C.H., Delatycki, Martin B., Amor, David J., McGillivray, George, Sherr, Elliott H., Bahlo, Melanie, Leventer, Richard J., Lockhart, Paul J.
Publicado no Neurol Genet (2015)

Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair

Por Vaz, Bruno, Popovic, Marta, Newman, Joseph A., Fielden, John, Aitkenhead, Hazel, Halder, Swagata, Singh, Abhay Narayan, Vendrell, Iolanda, Fischer, Roman, Torrecilla, Ignacio, Drobnitzky, Neele, Freire, Raimundo, Amor, David J., Lockhart, Paul J., Kessler, Benedikt M., McKenna, Gillies W., Gileadi, Opher, Ramadan, Kristijan
Publicado no Mol Cell (2016)