Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology von Wilson, Gabrielle R., Sim, Joe C.H., McLean, Catriona, Giannandrea, Maila, Galea, Charles A., Riseley, Jessica R., Stephenson, Sarah E.M., Fitzpatrick, Elizabeth, Haas, Stefan A., Pope, Kate, Hogan, Kirk J., Gregg, Ronald G., Bromhead, Catherine J., Wargowski, David S., Lawrence, Christopher H., James, Paul A., Churchyard, Andrew, Gao, Yujing, Phelan, Dean G., Gillies, Greta, Salce, Nicholas, Stanford, Lynn, Marsh, Ashley P.L., Mignogna, Maria L., Hayflick, Susan J., Leventer, Richard J., Delatycki, Martin B., Mellick, George D., Kalscheuer, Vera M., D’Adamo, Patrizia, Bahlo, Melanie, Amor, David J., Lockhart, Paul J.

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NKX2-5 regulates human cardiomyogenesis via a HEY2 dependent transcriptional network von Anderson, David J., Kaplan, David I., Bell, Katrina M., Koutsis, Katerina, Haynes, John M., Mills, Richard J., Phelan, Dean G., Qian, Elizabeth L., Leitoguinho, Ana Rita, Arasaratnam, Deevina, Labonne, Tanya, Ng, Elizabeth S., Davis, Richard P., Casini, Simona, Passier, Robert, Hudson, James E., Porrello, Enzo R., Costa, Mauro W., Rafii, Arash, Curl, Clare L., Delbridge, Lea M., Harvey, Richard P., Oshlack, Alicia, Cheung, Michael M., Mummery, Christine L., Petrou, Stephen, Elefanty, Andrew G., Stanley, Edouard G., Elliott, David A.

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Pathogenic Variants in GPC4 Cause Keipert Syndrome von Amor, David J., Stephenson, Sarah E.M., Mustapha, Mirna, Mensah, Martin A., Ockeloen, Charlotte W., Lee, Wei Shern, Tankard, Rick M., Phelan, Dean G., Shinawi, Marwan, de Brouwer, Arjan P.M., Pfundt, Rolph, Dowling, Cari, Toler, Tomi L., Sutton, V. Reid, Agolini, Emanuele, Rinelli, Martina, Capolino, Rossella, Martinelli, Diego, Zampino, Giuseppe, Dumić, Miroslav, Reardon, William, Shaw-Smith, Charles, Leventer, Richard J., Delatycki, Martin B., Kleefstra, Tjitske, Mundlos, Stefan, Mortier, Geert, Bahlo, Melanie, Allen, Nicola J., Lockhart, Paul J.

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Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing von Field, Michael, Dudding-Byth, Tracy, Arpone, Marta, Baker, Emma K, Aliaga, Solange M, Rogers, Carolyn, Hickerton, Chriselle, Francis, David, Phelan, Dean G, Palmer, Elizabeth E, Amor, David J, Slater, Howard, Bretherton, Lesley, Ling, Ling, Godler, David E

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Genetic, Radiologic and Clinical Variability in Brown-Vialetto-Van Laere Syndrome von Woodcock, Ian R., MBBS MRCPCH MSc, Menezes, Manoj P., MBBS FRACP PhD, Coleman, Lee, MBCHB FRANZCR BSc, Yaplito-Lee, Joy, MD FRACP, Peters, Heidi, MBBS FRACP PhD, White, Susan M., MBBS FRACP, Stapleton, Rachel, MBBS, Phelan, Dean G., BSc, Chong, Belinda, PhD, Lunke, Sebastian, PhD, Stark, Zornitza, BM BCh FRACP MA, Pitt, James, PhD FFSc(RCPA), Ryan, Monique M., MBBS FRACP MMed, Robertson, Colin, MBBS FRACP MSc MD, Yiu, Eppie M., MBBS FRACP PhD

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Meeting the challenges of implementing rapid genomic testing in acute pediatric care von Stark, Zornitza, Lunke, Sebastian, Brett, Gemma R., Tan, Natalie B., Stapleton, Rachel, Kumble, Smitha, Yeung, Alison, Phelan, Dean G., Chong, Belinda, Fanjul-Fernandez, Miriam, Marum, Justine E., Hunter, Matthew, Jarmolowicz, Anna, Prawer, Yael, Riseley, Jessica R., Regan, Matthew, Elliott, Justine, Martyn, Melissa, Best, Stephanie, Tan, Tiong Y., Gaff, Clara L., White, Susan M.

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Insights into the genotype‐phenotype correlation and molecular function of SLC25A46 von Abrams, Alexander J., Fontanesi, Flavia, Tan, Natalie B. L., Buglo, Elena, Campeanu, Ion J., Rebelo, Adriana P., Kornberg, Andrew J., Phelan, Dean G., Stark, Zornitza, Zuchner, Stephan

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ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish t... von Phelan, Dean G, Anderson, David J, Howden, Sara E, Wong, Raymond C B, Hickey, Peter F, Pope, Kate, Wilson, Gabrielle R, Pébay, Alice, Davis, Andrew M, Petrou, Steven, Elefanty, Andrew G, Stanley, Edouard G, James, Paul A, Macciocca, Ivan, Bahlo, Melanie, Cheung, Michael M, Amor, David J, Elliott, David A, Lockhart, Paul J

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The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective von Eratne, Dhamidhu, Schneider, Amy, Lynch, Ella, Martyn, Melissa, Velakoulis, Dennis, Fahey, Michael, Kwan, Patrick, Leventer, Richard, Rafehi, Haloom, Chong, Belinda, Stark, Zornitza, Lunke, Sebastian, Phelan, Dean G., O'Keefe, Melanie, Siemering, Kirby, West, Kirsty, Sexton, Adrienne, Jarmolowicz, Anna, Taylor, Jessica A., Schultz, Joshua, Purvis, Rebecca, Uebergang, Eloise, Chalinor, Heather, Creighton, Belinda, Gelfand, Nikki, Saks, Tamar, Prawer, Yael, Smagarinsky, Yana, Pan, Tianxin, Goranitis, Ilias, Ademi, Zanfina, Gaff, Clara, Huq, Aamira, Walsh, Maie, James, Paul A., Krzesinski, Emma I., Wallis, Mathew, Stutterd, Chloe A., Bahlo, Melanie, Delatycki, Martin B., Berkovic, Samuel F.

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Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants von Herkert, Johanna C., Verhagen, Judith M.A., Yotti, Raquel, Haghighi, Alireza, Phelan, Dean G., James, Paul A., Brown, Natasha J., Stutterd, Chloe, Macciocca, Ivan, Leong, Kai'En, Bulthuis, Marian L.C., van Bever, Yolande, van Slegtenhorst, Marjon A., Boven, Ludolf G., Roberts, Amy E., Agarwal, Radhika, Seidman, Jonathan, Lakdawala, Neal K., Fernández-Avilés, Francisco, Burke, Michael A., Pierpont, Mary Ella, Braunlin, Elizabeth, Ḉağlayan, Ahmet Okay, Barge-Schaapveld, Daniela Q.C.M., Birnie, Erwin, van Osch-Gevers, Lennie, van Langen, Irene M., Jongbloed, Jan D.H., Lockhart, Paul J., Amor, David J., Seidman, Christine E., van de Laar, Ingrid M.B.H.

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Brugada Syndrome Caused by a Large Deletion in SCN5A Only Detected by Multiplex Ligation‐Dependent Probe Amplification von EASTAUGH, LUCAS J., JAMES, PAUL A., PHELAN, DEAN G., DAVIS, ANDREW M.

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Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy von Walsh, Maie, Bell, Katrina M., Chong, Belinda, Creed, Emma, Brett, Gemma R., Pope, Kate, Thorne, Natalie P., Sadedin, Simon, Georgeson, Peter, Phelan, Dean G., Day, Timothy, Taylor, Jessica A., Sexton, Adrienne, Lockhart, Paul J., Kiers, Lynette, Fahey, Michael, Macciocca, Ivan, Gaff, Clara L., Oshlack, Alicia, Yiu, Eppie M., James, Paul A., Stark, Zornitza, Ryan, Monique M.

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Brugada Syndrome Caused by a Large Deletion in SCN5A Only Detected by Multiplex Ligation-Dependent Probe Amplification von EASTAUGH, LUCAS J., JAMES, PAUL A., PHELAN, DEAN G., DAVIS, ANDREW M.

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Genome-wide cell-free DNA based non-invasive prenatal testing identifies trisomy 14 mosaicism in association with uniparental disomy von Phelan, Dean G., Flowers, Nicola, Giouzeppos, Olivia, Lall, Paula, Casey, Ellen, Houben, Leonie, McCleery, Mara, Pertile, Mark D.

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Pathogenic Variants in GPC4 Cause Keipert Syndrome von Amor, David J, Stephenson, Sarah E.M, Mustapha, Mirna, Mensah, Martin A, Ockeloen, Charlotte W, Lee, Wei Shern, Tankard, Rick M, Phelan, Dean G, Shinawi, Marwan, de Brouwer, Arjan P.M, Pfundt, Rolph, Dowling, Cari, Toler, Tomi L, Sutton, V. Reid, Agolini, Emanuele, Rinelli, Martina, Capolino, Rossella, Martinelli, Diego, Zampino, Giuseppe, Dumic, Miroslav, Reardon, William, Shaw-Smith, Charles, Leventer, Richard J, Delatycki, Martin B, Kleefstra, Tjitske, Mundlos, Stefan, Mortier, Geert, Bahlo, Melanie, Allen, Nicola J, Lockhart, Paul J

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Rapid genomic testing in acute paediatric care: Is it worth the trouble? von Stark, Zornitza, Lunke, Sebastian, Brett, Gemma R., Tan, Natalie B., Stapleton, Rachel, Kumble, Smitha, Yeung, Alison, Phelan, Dean G., Chong, Belinda, Fernandez, Miriam Fanjul, Marum, Justine E., Hunter, Matthew, Jarmolowicz, Anna, Prawer, Yael, Riseley, Jessica R., Regan, Matthew, Elliott, Justine, Martyn, Melissa, Best, Stephanie, Tan, Tiong Y., Gaff, Clara L., White, Susan M.

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Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with [alpha]-Synuclein Pathology von Wilson, Gabrielle R, Sim, Joe CH, McLean, Catriona, Giannandrea, Maila, Galea, Charles A, Riseley, Jessica R, Stephenson, Sarah EM, Fitzpatrick, Elizabeth, Haas, Stefan A, Pope, Kate, Hogan, Kirk J, Gregg, Ronald G, Bromhead, Catherine J, Wargowski, David S, Lawrence, Christopher H, James, Paul A, Churchyard, Andrew, Gao, Yujing, Phelan, Dean G, Gillies, Greta, Salce, Nicholas, Stanford, Lynn, Marsh, Ashley PL, Mignogna, Maria L, Hayflick, Susan J, Leventer, Richard J, Delatycki, Martin B, Mellick, George D, Kalscheuer, Vera M, D'Adamo, Patrizia, Bahlo, Melanie, Amor, David J, Lockhart, Paul J

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Abstract 14519: Unique Cardiac Phenotype in ALPK3-Related Disease: Progression From Dilated Cardiomyopathy to Hypertrophic Cardiomyopathy von Herkert, Johanna C, Verhagen, Judith M, Phelan, Dean G, James, Paul A, Brown, Natasha J, Stutterd, Chloe, Macciocca, Ivan, Aggarwal, Anu, Timmer, Bert, Bulthuis, Marion L, van Bever, Yolande, Roberts, Amy E, Seidman, Christine E, Lakdawala, Neal K, Burke, Michael A, Pierpont, Mary Ella, van Langen, Irene M, Jongbloed, Jan D, Lockhart, Paul J, Amor, David J, van de Laar, Ingrid M

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Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing von Field, Michael, Dudding-Byth, Tracy, Arpone, Marta, Baker, Emma K, Aliaga, Solange M, Rogers, Carolyn, Hickerton, Chriselle, Francis, David, Phelan, Dean G, Palmer, Elizabeth E, Amor, David J, Slater, Howard, Bretherton, Lesley, Ling, Ling, Godler, David E

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Brugada Syndrome Caused by a Large Deletion in SCN5A Only Detected by Multiplex Ligation-Dependent Probe Amplification von EASTAUGH, LUCAS J., JAMES, PAUL A., PHELAN, DEAN G., DAVIS, ANDREW M.

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