Preimplantation genetic diagnosis for hemophilia A using indirect linkage analysis and direct genotyping approaches von LAURIE, A. D., HILL, A. M., HARRAWAY, J. R., FELLOWES, A. P., PHILLIPSON, G. T., BENNY, P. S., SMITH, M. P., GEORGE, P. M.

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A highly informative, multiplexed assay for the indirect detection of hemophilia A using five‐linked microsatellites von HARRAWAY, J. R., SMITH, M. P., GEORGE, P. M.

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Autosomal recessive adult-onset hypophosphatasia von Harraway, J.R., Sheard, J.M., Soule, S.J., Florkowski, C.M., George, P.M.

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Autosomal recessive adult-onset hypophosphatasia von Harraway, J R, Sheard, J M, Soule, S J, Florkowski, C M, George, P M

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State‐wide utilization and performance of traditional and cell‐free DNA‐based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study von Lindquist, A., Hui, L., Poulton, A., Kluckow, E., Hutchinson, B., Pertile, M. D., Bonacquisto, L., Gugasyan, L., Kulkarni, A., Harraway, J., Howden, A., McCoy, R., Da Silva Costa, F., Menezes, M., Palma‐Dias, R., Nisbet, D., Martin, N., Bethune, M., Poulakis, Z., Halliday, J.

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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants von Bommireddipalli, Shobhana, Ades, Lesley, Archibald, Alison D., Berman, Yemima, Bojadzieva, Jasmina, Brown, Natasha J., Bryen, Samantha J., Engel, Amanda, Ewans, Lisa J., Fennell, Andrew, Freckmann, Mary-Louise, Gear, Russell, Goel, Himanshu, Goh, Shuxiang, Harraway, James, Higgins, Megan, Ho, Gladys, Hunter, Matthew F., Joshi, Himanshu, Krzesinski, Emma, Leventer, Richard J., Macaskill, Steven, McCarthy, Hugh J., McLean, Alison, Patel, Chirag, Regan, Matthew, Schindler, Tim, Tantsis, Esther, Tchan, Michel C., van Spaendonck-Zwarts, Karin, White, Susan M., Williams, Mark G., Wright, Dale C., Yap, Patrick, Yeung, Alison, Jones, Kristi J., Cooper, Sandra T., Arts, Peer, Barnett, Christopher, Beshay, Victoria, Blombery, Piers, Boggs, Kirsten, Branford, Susan, Bryen, Samantha J., Canson, Daffodil, Chew, Edward, Chong, Belinda, Chung, Seo-Kyung, Clark, Mike, Compton, Alison, Corbett, Mark, Davis, Mark R., Dudding, Tracy, Ewans, Lisa J., Eyras, Eduardo, Fellowes, Andrew, Field, Michael, Freckmann, Mary-Louise, Gaff, Clara, Galea, Melanie, Hanna, Bernadette, Harraway, James, Hayashi, Rippei, Henderson, Alex, Jackson, Matilda, Jones, Kristi J., Wong, Justin Jong-Leong, Joshi, Himanshu, Krzesinski, Emma, Kumble, Smitha, Laing, Nigel, Lau, Chiyan, Lee, Eric, Lundie, Ben, Mallawaarachchi, Amali, McLean, Alison, Meldrum, Cliff, Mina, Kym, Mowat, David, Oshlack, Alicia, Parsons, Michael, Patel, Chirag, Pinner, Jason R., Quinn, Michael, Ravenscroft, Gina, Regan, Matthew, Ronan, Anne, Sadedin, Simon, Schreiber, Andreas, Scott, Rodney, Simons, Cas, Smyth, Renee, Thompson, Bryony A., Thorburn, David, Trent, Ronald, Tudini, Emma, Wallis, Mathew, Wilson, Meredith J., Winship, Ingrid, Yeung, Alison

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Abstracts of the 29th World Congress on Ultrasound in Obstetrics and Gynecology, 12-16 October 2019, Berlin, Germany von Hui, L, Lindquist, A, Poulton, A, Kluckow, E, Hutchinson, B, Bonacquisto, L, Pertile, M D, Gugasyan, L, Kulkarni, A, Harraway, J, Howden, A, McCoy, R, da Silva Costa, F, Palma-Dias, R, Nisbet, D, Martin, N, Behune, M, Poulakis, Z, Halliday, J

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OC06.04: Population‐based prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort von Hui, L., Poulton, A., Kluckow, E., Lindquist, A., Hutchinson, B., Pertile, M.D., Bonacquisto, L., Gugasyan, L., Kulkarni, A., Harraway, J., Howden, A., McCoy, R., da Silva Costa, F., Menezes, M., Palma‐Dias, R., Nisbet, D., Martin, N., Bethune, M., Poulakis, Z., Halliday, J.

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OC01.03: State‐wide performance of traditional and cell‐free DNA‐based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study von Hui, L., Lindquist, A., Poulton, A., Kluckow, E., Hutchinson, B., Bonacquisto, L., Pertile, M.D., Gugasyan, L., Kulkarni, A., Harraway, J., Howden, A., McCoy, R., da Silva Costa, F., Palma‐Dias, R., Nisbet, D., Martin, N., Behune, M., Poulakis, Z., Halliday, J.

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Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group von Schmidt, Ryan J., Steeves, Marcie, Bayrak-Toydemir, Pinar, Benson, Katherine A., Coe, Bradley P., Conlin, Laura K., Ganapathi, Mythily, Garcia, John, Gollob, Michael H., Jobanputra, Vaidehi, Luo, Minjie, Ma, Deqiong, Maston, Glenn, McGoldrick, Kelly, Palculict, T. Blake, Pesaran, Tina, Pollin, Toni I., Qian, Emily, Rehm, Heidi L., Riggs, Erin R., Schilit, Samantha L.P., Sergouniotis, Panagiotis I., Tvrdik, Tatiana, Watkins, Nicholas, Zec, Lauren, Zhang, Wenying, Lebo, Matthew S., Byrne, Alicia, Spurdle, Amanda, Palculict, Blake, Coe, Bradley, Deqiong, Ma, Lyon, Elaine, Groopman, Emily, Qian, Emily, Puffenberger, Erik, Riggs, Erin, Couch, Fergus, Maston, Glenn, Dziadzio, Hannah, Harraway, James, Mester, Jessica, Garcia, John, Lerner-Ellis, Jordan, Benson, Katherine, Avello, Kayleigh, McGoldrick, Kelly, Conlin, Laura, Zec, Lauren, Steeves, Marcie, Richardson, Marcy, Lebo, Matt, Kelly, Melissa, Gollob, Michael, Luo, Minjie, Ganapathi, Mythily, Watkins, Nicholas, Niu, Nifang, Sergouniotis, Panagiotis, Bayrak-Toydemir, Pinar, Schmidt, Ryan, Schilit, Samantha, Richards, Sarah, Pesaran, Tina, Pollin, Toni, Jobanputra, Vaidehi, Zhang, Wenying, Chen, Wuyan, Fan, Yuxin

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E-cadherin germline mutations in familial gastric cancer von Guilford, Parry, Hopkins, Justin, Harraway, James, McLeod, Maybelle, McLeod, Ngahiraka, Harawira, Pauline, Taite, Huriana, Scoular, Robin, Miller, Andrew, Reeve, Anthony E

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Thiopurine methyltransferase and 6-thioguanine nucleotide measurement: early experience of use in clinical practice von Gearry, R. B., Barclay, M. L., Roberts, R. L., Harraway, J., Zhang, M., Pike, L. S., George, P. M., Florkowski, C. M.

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Improving predator capture rates: analysis of river margin trap site data in the Waitaki Basin, New Zealand von Cameron, Bevan G., van Heezik, Yolanda, Maloney, Richard F., Seddon, Philip J., Harraway, John A.

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6-thioguanine nucleotides and thiopurine methyltransferase activity: important factors determining response to treatment and incidence of adverse effects from azathioprine and 6-MP von Gearry, Richard, Barclay, Murray, Gardiner, Sharon, Zhang, Mei

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