A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation von Gochee, Peter A., Powell, Lawrie W., Cullen, Digby J., Du Sart, Desiree, Rossi, Enrico, Olynyk, John K.

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ADGRV1 is implicated in myoclonic epilepsy von Myers, Kenneth A., Nasioulas, Steven, Boys, Amber, McMahon, Jacinta M., Slater, Howard, Lockhart, Paul, Sart, Desirée du, Scheffer, Ingrid E.

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Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests von Archibald, Alison Dalton, Smith, Melanie Jane, Burgess, Trent, Scarff, Katrina Louise, Elliott, Justine, Hunt, Clare Elizabeth, Barns-Jenkins, Caitlin, Holt, Chelsea, Sandoval, Karina, Siva Kumar, Vanessa, Ward, Lisa, Allen, Emily Caroline, Collis, Sarah Valerie, Cowie, Shannon, Francis, David, Delatycki, Martin B, Yiu, Eppie Mildred, Massie, R John, Pertile, Mark Domenic, du Sart, Desirée, Bruno, Damien, Amor, David J

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Pathophysiological Insights Derived by Natural History and Motor Function of Spinal Muscular Atrophy von Farrar, Michelle A., MBBS, Vucic, Steve, MBBS, PhD, Johnston, Heather M., MBChB, du Sart, Desirée, MBBS, PhD, Kiernan, Matthew C., MBBS, PhD, DSc

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Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis von Aliaga, Solange M, Slater, Howard R, Francis, David, Du Sart, Desiree, Li, Xin, Amor, David J, Alliende, Angelica M, Santa Maria, Lorena, Faundes, Víctor, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Curotto, Bianca, Godler, David E

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FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts von Kraan, Claudine M., Bui, Quang M., Field, Mike, Archibald, Alison D., Metcalfe, Sylvia A., Christie, Louise M., Bennetts, Bruce H., Oertel, Ralph, Smith, Melanie J., du Sart, Desiree, Bruno, Damien, Wotton, Tiffany L., Amor, David J., Francis, David, Godler, David E.

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Hyperplastic Polyposis Syndrome: Phenotypic Presentations and the Role of MBD4 and MYH von Chow, Elizabeth, Lipton, Lara, Lynch, Elly, D’Souza, Rebecca, Aragona, Clelia, Hodgkin, Lindy, Brown, Gregor, Winship, Ingrid, Barker, Melissa, Buchanan, Daniel, Cowie, Shannon, Nasioulas, Steve, du Sart, Desiree, Young, Joanne, Leggett, Barbara, Jass, Jeremy, Macrae, Finlay

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Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics von Kalman, Lisa V, Lubin, Ira M, Barker, Shannon, du Sart, Desiree, Elles, Rob, Grody, Wayne W, Pazzagli, Mario, Richards, Sue, Schrijver, Iris, Zehnbauer, Barbara

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A Prospective Study of Sudden Cardiac Death among Children and Young Adults von Bagnall, Richard D, Weintraub, Robert G, Ingles, Jodie, Duflou, Johan, Yeates, Laura, Lam, Lien, Davis, Andrew M, Thompson, Tina, Connell, Vanessa, Wallace, Jennie, Naylor, Charles, Crawford, Jackie, Love, Donald R, Hallam, Lavinia, White, Jodi, Lawrence, Christopher, Lynch, Matthew, Morgan, Natalie, James, Paul, du Sart, Desirée, Puranik, Rajesh, Langlois, Neil, Vohra, Jitendra, Winship, Ingrid, Atherton, John, McGaughran, Julie, Skinner, Jonathan R, Semsarian, Christopher

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Dysfunction of axonal membrane conductances in adolescents and young adults with spinal muscular atrophy von Farrar, Michelle A., Vucic, Steve, Lin, Cindy S.-Y., Park, Susanna B., Johnston, Heather M., du Sart, Desirée, Bostock, Hugh, Kiernan, Matthew C.

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Population screening and cascade testing for carriers of SMA von Smith, Melanie, Calabro, Vanessa, Chong, Belinda, Gardiner, Nicole, Cowie, Shannon, du Sart, Desirée

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Population‐based genetic carrier screening for cystic fibrosis in Victoria von Archibald, Alison D, Massie, John, Smith, Melanie J, Dalton, Deborah G, Du Sart, Desirée, Amor, David J

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Hereditary Nonpolyposis Colorectal Cancer in 95 Families: Differences and Similarities between Mutation-Positive and Mutation-Negative Kindreds von Scott, Rodney J., McPhillips, Mary, Meldrum, Cliff J., Fitzgerald, Patrick E., Adams, Kirsten, Spigelman, Allan D., du Sart, Desiree, Tucker, Kathy, Kirk, Judy

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EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias von Hayesmoore, Jesse B, Bhuiyan, Zahurul A, Coviello, Domenico A, du Sart, Desirée, Edwards, Matthew, Iascone, Maria, Morris-Rosendahl, Deborah J, Sheils, Katie, van Slegtenhorst, Marjon, Thomson, Kate L

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Erratum: Hwang Y.T. et al. Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia. Genes 2016, 7, 68 von Hwang, Yun Tae, Dudding, Tracy, Aliaga, Solange Mabel, Arpone, Marta, Francis, David, Li, Xin, Slater, Howard Robert, Rogers, Carolyn, Bretherton, Lesley, du Sart, Desirée, Heard, Robert, Godler, David Eugeny

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A comprehensive evaluation of myocardial fibrosis in hypertrophic cardiomyopathy with cardiac magnetic resonance imaging: linking genotype with fibrotic phenotype von Ellims, Andris H, Iles, Leah M, Ling, Liang-han, Chong, Belinda, Macciocca, Ivan, Slavin, Glenn S, Hare, James L, Kaye, David M, Marasco, Silvana F, McLean, Catriona A, James, Paul A, du Sart, Desirée, Taylor, Andrew J

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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database von Thompson, Bryony A, Spurdle, Amanda B, Plazzer, John-Paul, Greenblatt, Marc S, Akagi, Kiwamu, Al-Mulla, Fahd, Bapat, Bharati, Bernstein, Inge, Capellá, Gabriel, den Dunnen, Johan T, du Sart, Desiree, Fabre, Aurelie, Farrell, Michael P, Farrington, Susan M, Frayling, Ian M, Frebourg, Thierry, Goldgar, David E, Heinen, Christopher D, Holinski-Feder, Elke, Kohonen-Corish, Maija, Robinson, Kristina Lagerstedt, Leung, Suet Yi, Martins, Alexandra, Moller, Pal, Morak, Monika, Nystrom, Minna, Peltomaki, Paivi, Pineda, Marta, Qi, Ming, Ramesar, Rajkumar, Rasmussen, Lene Juel, Royer-Pokora, Brigitte, Scott, Rodney J, Sijmons, Rolf, Tavtigian, Sean V, Tops, Carli M, Weber, Thomas, Wijnen, Juul, Woods, Michael O, Macrae, Finlay, Genuardi, Maurizio

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Correction: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests von Archibald, Alison Dalton, Smith, Melanie Jane, Burgess, Trent, Scarff, Katrina Louise, Elliott, Justine, Hunt, Clare Elizabeth, Barns-Jenkins, Caitlin, Holt, Chelsea, Sandoval, Karina, Kumar, Vanessa Siva, Ward, Lisa, Allen, Emily Caroline, Collis, Sarah Valerie, Cowie, Shannon, Francis, David, Delatycki, Martin B, Yiu, Eppie Mildred, Massie, R John, Pertile, Mark Domenic, du Sart, Desirée, Bruno, Damien, Amor, David J

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Dentatorubral‐pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent... von Vinton, Anita, Fahey, Michael C., O'Brien, Terence J., Shaw, Janet, Storey, Elsdon, McKinlay Gardner, R.J., Mitchell, Peter J., Du Sart, Desirée, King, John O.

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Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia von Hwang, Yun Tae, Dudding, Tracy, Aliaga, Solange Mabel, Arpone, Marta, Francis, David, Li, Xin, Slater, Howard Robert, Rogers, Carolyn, Bretherton, Lesley, du Sart, Desirée, Heard, Robert, Godler, David Eugeny

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