Mammalian sex determination—insights from humans and mice von Eggers, Stefanie, Sinclair, Andrew

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Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions von Tan, Tiong Yang, Gonzaga-Jauregui, Claudia, Bhoj, Elizabeth J., Strauss, Kevin A., Brigatti, Karlla, Puffenberger, Erik, Li, Dong, Xie, LiQin, Das, Nanditha, Skubas, Ioanna, Deckelbaum, Ron A., Hughes, Virginia, Brydges, Susannah, Hatsell, Sarah, Siao, Chia-Jen, Dominguez, Melissa G., Economides, Aris, Overton, John D., Mayne, Valerie, Simm, Peter J., Jones, Bryn O., Eggers, Stefanie, Le Guyader, Gwenaël, Pelluard, Fanny, Haack, Tobias B., Sturm, Marc, Riess, Angelika, Waldmueller, Stephan, Hofbeck, Michael, Steindl, Katharina, Joset, Pascal, Rauch, Anita, Hakonarson, Hakon, Baker, Naomi L., Farlie, Peter G.

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Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects von Ayers, Katie L., Eggers, Stefanie, Rollo, Ben N., Smith, Katherine R., Davidson, Nadia M., Siddall, Nicole A., Zhao, Liang, Bowles, Josephine, Weiss, Karin, Zanni, Ginevra, Burglen, Lydie, Ben-Shachar, Shay, Rosensaft, Jenny, Raas-Rothschild, Annick, Jørgensen, Anne, Schittenhelm, Ralf B., Huang, Cheng, Robevska, Gorjana, van den Bergen, Jocelyn, Casagranda, Franca, Cyza, Justyna, Pachernegg, Svenja, Wright, David K., Bahlo, Melanie, Oshlack, Alicia, O’Brien, Terrence J., Kwan, Patrick, Koopman, Peter, Hime, Gary R., Girard, Nadine, Hoffmann, Chen, Shilon, Yuval, Zung, Amnon, Bertini, Enrico, Milh, Mathieu, Ben Rhouma, Bochra, Belguith, Neila, Bashamboo, Anu, McElreavey, Kenneth, Banne, Ehud, Weintrob, Naomi, BenZeev, Bruria, Sinclair, Andrew H.

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Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol von Lunke, Sebastian, Bouffler, Sophie E, Downie, Lilian, Caruana, Jade, Amor, David J, Archibald, Alison, Bombard, Yvonne, Christodoulou, John, Clausen, Marc, De Fazio, Paul, Greaves, Ronda F, Hollizeck, Sebastian, Kanga-Parabia, Anaita, Lang, Nitzan, Lynch, Fiona, Peters, Riccarda, Sadedin, Simon, Tutty, Erin, Eggers, Stefanie, Lee, Crystle, Wall, Meaghan, Yeung, Alison, Gaff, Clara, Gyngell, Christopher, Vears, Danya F, Best, Stephanie, Goranitis, Ilias, Stark, Zornitza

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Copy number variation associated with meiotic arrest in idiopathic male infertility von Eggers, Stefanie, Ph.D, DeBoer, Kathleen D., Ph.D, van den Bergen, Jocelyn, B.Sc, Gordon, Lavinia, M.Sc, White, Stefan J., Ph.D, Jamsai, Duangporn, Ph.D, McLachlan, Robert I., Ph.D, Sinclair, Andrew H., Ph.D, O'Bryan, Moira K., Ph.D

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XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris) von Meyers-Wallen, Vicki N, Boyko, Adam R, Danko, Charles G, Grenier, Jennifer K, Mezey, Jason G, Hayward, Jessica J, Shannon, Laura M, Gao, Chuan, Shafquat, Afrah, Rice, Edward J, Pujar, Shashikant, Eggers, Stefanie, Ohnesorg, Thomas, Sinclair, Andrew H

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The association between pneumococcal vaccination, ethnicity, and the nasopharyngeal microbiota of children in Fiji von Boelsen, Laura K, Dunne, Eileen M, Mika, Moana, Eggers, Stefanie, Nguyen, Cattram D, Ratu, F Tupou, Russell, Fiona M, Mulholland, E Kim, Hilty, Markus, Satzke, Catherine

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Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development von Bergen, Jocelyn A., Robevska, Gorjana, Eggers, Stefanie, Riedl, Stefan, Grover, Sonia R., Bergman, Philip B., Kimber, Chris, Jiwane, Ashish, Khan, Sophy, Krausz, Csilla, Raza, Jamal, Atta, Irum, Davis, Susan R., Ono, Makato, Harley, Vincent, Faradz, Sultana M. H., Sinclair, Andrew H., Ayers, Katie L.

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Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient von Kaur, Simranpreet, Van Bergen, Nicole J., Gold, Wendy Anne, Eggers, Stefanie, Lunke, Sebastian, White, Susan M., Ellaway, Carolyn, Christodoulou, John

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Rapid high-throughput analysis of DNaseI hypersensitive sites using a modified Multiplex Ligation-dependent Probe Amplification approach von Ohnesorg, Thomas, Eggers, Stefanie, Leonhard, Wouter N, Sinclair, Andrew H, White, Stefan J

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Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System von Lunke, Sebastian, Eggers, Stefanie, Wilson, Meredith, Patel, Chirag, Barnett, Christopher P., Pinner, Jason, Sandaradura, Sarah A., Buckley, Michael F., Krzesinski, Emma I., de Silva, Michelle G., Brett, Gemma R., Boggs, Kirsten, Mowat, David, Kirk, Edwin P., Ades, Lesley C., Akesson, Lauren S., Amor, David J., Ayres, Samantha, Baxendale, Anne, Borrie, Sarah, Bray, Alessandra, Brown, Natasha J., Chan, Cheng Yee, Chong, Belinda, Cliffe, Corrina, Delatycki, Martin B., Edwards, Matthew, Elakis, George, Fahey, Michael C., Fennell, Andrew, Fowles, Lindsay, Gallacher, Lyndon, Higgins, Megan, Howell, Katherine B., Hunt, Lauren, Hunter, Matthew F., Jones, Kristi J., King, Sarah, Kumble, Smitha, Lang, Sarah, Le Moing, Maelle, Ma, Alan, Phelan, Dean, Quinn, Michael C. J., Richards, Anna, Richmond, Christopher M., Riseley, Jessica, Rodgers, Jonathan, Sachdev, Rani, Sadedin, Simon, Schlapbach, Luregn J., Smith, Janine, Springer, Amanda, Tan, Natalie B., Tan, Tiong Y., Temple, Suzanna L., Theda, Christiane, Vasudevan, Anand, White, Susan M., Yeung, Alison, Zhu, Ying, Martyn, Melissa, Best, Stephanie, Roscioli, Tony, Christodoulou, John, Stark, Zornitza

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The cost of proband and trio exome and genome analysis in rare disease: A micro-costing study von Mordaunt, Dylan A., Gonzalez, Francisco Santos, Lunke, Sebastian, Eggers, Stefanie, Sadedin, Simon, Chong, Belinda, Dalziel, Kim, Stark, Zornitza, Goranitis, Ilias

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A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy von Howell, Katherine B., Eggers, Stefanie, Dalziel, Kim, Riseley, Jessica, Mandelstam, Simone, Myers, Candace T., McMahon, Jacinta M., Schneider, Amy, Carvill, Gemma L., Mefford, Heather C., Scheffer, Ingrid E., Harvey, A. Simon

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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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The severe epilepsy syndromes of infancy: A population‐based study von Howell, Katherine B., Freeman, Jeremy L., Mackay, Mark T., Fahey, Michael C., Archer, John, Berkovic, Samuel F., Chan, Eunice, Dabscheck, Gabriel, Eggers, Stefanie, Hayman, Michael, Holberton, James, Hunt, Rodney W., Jacobs, Susan E., Kornberg, Andrew J., Leventer, Richard J., Mandelstam, Simone, McMahon, Jacinta M., Mefford, Heather C., Panetta, Julie, Riseley, Jessica, Rodriguez‐Casero, Victoria, Ryan, Monique M., Schneider, Amy L., Smith, Lindsay J., Stark, Zornitza, Wong, Flora, Yiu, Eppie M., Scheffer, Ingrid E., Harvey, A. Simon

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Integrated multi-omics for rapid rare disease diagnosis on a national scale von Lunke, Sebastian, Bouffler, Sophie E., Patel, Chirag V., Sandaradura, Sarah A., Wilson, Meredith, Pinner, Jason, Hunter, Matthew F., Barnett, Christopher P., Wallis, Mathew, Kamien, Benjamin, Tan, Tiong Y., Freckmann, Mary-Louise, Chong, Belinda, Phelan, Dean, Francis, David, Kassahn, Karin S., Ha, Thuong, Gao, Song, Arts, Peer, Jackson, Matilda R., Scott, Hamish S., Eggers, Stefanie, Rowley, Simone, Boggs, Kirsten, Rakonjac, Ana, Brett, Gemma R., de Silva, Michelle G., Springer, Amanda, Ward, Michelle, Stallard, Kirsty, Simons, Cas, Conway, Thomas, Halman, Andreas, Van Bergen, Nicole J., Sikora, Tim, Semcesen, Liana N., Stroud, David A., Compton, Alison G., Thorburn, David R., Bell, Katrina M., Sadedin, Simon, North, Kathryn N., Christodoulou, John, Stark, Zornitza

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Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neuro degenerative Condition with Intracranial Calcification von Dong, Xiaomin, Tan, Natalie B., Howell, Katherine B., Barresi, Sabina, Freeman, Jeremy L., Vecchio, Davide, Piccione, Maria, Radio, Francesca Clementina, Calame, Daniel, Zong, Shan, Eggers, Stefanie, Scheffer, Ingrid E., Tan, Tiong Y., Van Bergen, Nicole J., Tartaglia, Marco, Christodoulou, John, White, Susan M.

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Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification von Dong, Xiaomin, Tan, Natalie B., Howell, Katherine B., Barresi, Sabina, Freeman, Jeremy L., Vecchio, Davide, Piccione, Maria, Radio, Francesca Clementina, Calame, Daniel, Zong, Shan, Eggers, Stefanie, Scheffer, Ingrid E., Tan, Tiong Y., Van Bergen, Nicole J., Tartaglia, Marco, Christodoulou, John, White, Susan M.

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NR5A1 gene variants repress the ovarian‐specific WNT signaling pathway in 46,XX disorders of sex development patients von Knarston, Ingrid M., Robevska, Gorjana, den Bergen, Jocelyn A, Eggers, Stefanie, Croft, Brittany, Yates, Jason, Hersmus, Remko, Looijenga, Leendert H. J., Cameron, Fergus J., Monhike, Klaus, Ayers, Katie L., Sinclair, Andrew H.

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Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development von Robevska, Gorjana, den Bergen, Jocelyn A., Ohnesorg, Thomas, Eggers, Stefanie, Hanna, Chloe, Hersmus, Remko, Thompson, Elizabeth M., Baxendale, Anne, Verge, Charles F., Lafferty, Antony R., Marzuki, Nanis S., Santosa, Ardy, Listyasari, Nurin A., Riedl, Stefan, Warne, Garry, Looijenga, Leendert, Faradz, Sultana, Ayers, Katie L., Sinclair, Andrew H.

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