Imaging the lithospheric mantle in northwestern Canada with seismic wide-angle reflections von Viejo, Gabriela Fernandez, Clowes, Ron M., Amor, John R.

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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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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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Mutations in TRPV4 cause an inherited arthropathy of hands and feet von Lamandé, Shireen R, Yuan, Yuan, Gresshoff, Irma L, Rowley, Lynn, Belluoccio, Daniele, Kaluarachchi, Kumara, Little, Christopher B, Botzenhart, Elke, Zerres, Klaus, Amor, David J, Cole, William G, Savarirayan, Ravi, McIntyre, Peter, Bateman, John F

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Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis von Bennett, James T., Tan, Tiong Yang, Alcantara, Diana, Tétrault, Martine, Timms, Andrew E., Jensen, Dana, Collins, Sarah, Nowaczyk, Malgorzata J.M., Lindhurst, Marjorie J., Christensen, Katherine M., Braddock, Stephen R., Brandling-Bennett, Heather, Hennekam, Raoul C.M., Chung, Brian, Lehman, Anna, Su, John, Ng, SuYuen, Amor, David J., Majewski, Jacek, Biesecker, Les G., Boycott, Kym M., Dobyns, William B., O’Driscoll, Mark, Moog, Ute, McDonell, Laura M.

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Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling von Amyere, Mustapha, Revencu, Nicole, Helaers, Raphaël, Pairet, Eleonore, Baselga, Eulalia, Cordisco, Maria, Chung, Wendy, Dubois, Josée, Lacour, Jean-Philippe, Martorell, Loreto, Mazereeuw-Hautier, Juliette, Pyeritz, Reed E, Amor, David J, Bisdorff, Annouk, Blei, Francine, Bombei, Hannah, Dompmartin, Anne, Brooks, David, Dupont, Juliette, González-Enseñat, Maria Antonia, Frieden, Ilona, Gérard, Marion, Kvarnung, Malin, Hanson-Kahn, Andrea Kwan, Hudgins, Louanne, Léauté-Labrèze, Christine, McCuaig, Catherine, Metry, Denise, Parent, Philippe, Paul, Carle, Petit, Florence, Phan, Alice, Quere, Isabelle, Salhi, Aicha, Turner, Anne, Vabres, Pierre, Vicente, Asuncion, Wargon, Orli, Watanabe, Shoji, Weibel, Lisa, Wilson, Ashley, Willing, Marcia, Mulliken, John B, Boon, Laurence M, Vikkula, Miikka

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Revealing hidden genetic diagnoses in the ocular anterior segment disorders von Ma, Alan, Yousoof, Saira, Grigg, John R., Flaherty, Maree, Minoche, Andre E., Cowley, Mark J., Nash, Benjamin M., Ho, Gladys, Gayagay, Thet, Lai, Tiffany, Farnsworth, Elizabeth, Hackett, Emma L., Fisk, Katrina, Wong, Karen, Holman, Katherine J., Jenkins, Gemma, Cheng, Anson, Martin, Frank, Karaconji, Tanya, Elder, James E., Enriquez, Annabelle, Wilson, Meredith, Amor, David J., Stutterd, Chloe A., Kamien, Benjamin, Nelson, John, Dinger, Marcel E., Bennetts, Bruce, Jamieson, Robyn V.

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Somatic Tissue Engineering in Mouse Models Reveals an Actionable Role for WNT Pathway Alterations in Prostate Cancer Metastasis von Leibold, Josef, Ruscetti, Marcus, Cao, Zhen, Ho, Yu-Jui, Baslan, Timour, Zou, Min, Abida, Wassim, Feucht, Judith, Han, Teng, Barriga, Francisco M., Tsanov, Kaloyan M., Zamechek, Leah, Kulick, Amanda, Amor, Corina, Tian, Sha, Rybczyk, Katarzyna, Salgado, Nelson R., Sanchez-Rivera, Francisco J., Watson, Philip A., de Stanchina, Elisa, Wilkinson, John E., Dow, Lukas E., Abate-Shen, Cory, Sawyers, Charles L., Lowe, Scott W.

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Luman/CREB3 Recruitment Factor Regulates Glucocorticoid Receptor Activity and Is Essential for Prolactin-Mediated Maternal Instinct von Martyn, Amanda C., Choleris, Elena, Gillis, Daniel J., Armstrong, John N., Amor, Talya R., McCluggage, Adam R. R., Turner, Patricia V., Liang, Genqing, Cai, Kimberly, Lu, Ray

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Mutations disrupting neuritogenesis genes confer risk for cerebral palsy von Jin, Sheng Chih, Lewis, Sara A., Bakhtiari, Somayeh, Zeng, Xue, Sierant, Michael C., Shetty, Sheetal, Nordlie, Sandra M., Elie, Aureliane, Corbett, Mark A., Norton, Bethany Y., van Eyk, Clare L., Haider, Shozeb, Guida, Brandon S., Magee, Helen, Liu, James, Pastore, Stephen, Vincent, John B., Brunstrom-Hernandez, Janice, Papavasileiou, Antigone, Fahey, Michael C., Berry, Jesia G., Harper, Kelly, Zhou, Chongchen, Zhang, Junhui, Li, Boyang, Zhao, Hongyu, Heim, Jennifer, Webber, Dani L., Frank, Mahalia S. B., Xia, Lei, Xu, Yiran, Zhu, Dengna, Zhang, Bohao, Sheth, Amar H., Knight, James R., Castaldi, Christopher, Tikhonova, Irina R., López-Giráldez, Francesc, Keren, Boris, Whalen, Sandra, Buratti, Julien, Doummar, Diane, Cho, Megan, Retterer, Kyle, Millan, Francisca, Wang, Yangong, Waugh, Jeff L., Rodan, Lance, Cohen, Julie S., Fatemi, Ali, Lin, Angela E., Phillips, John P., Feyma, Timothy, MacLennan, Suzanna C., Vaughan, Spencer, Crompton, Kylie E., Reid, Susan M., Reddihough, Dinah S., Shang, Qing, Gao, Chao, Novak, Iona, Badawi, Nadia, Wilson, Yana A., McIntyre, Sarah J., Mane, Shrikant M., Wang, Xiaoyang, Amor, David J., Zarnescu, Daniela C., Lu, Qiongshi, Xing, Qinghe, Zhu, Changlian, Bilguvar, Kaya, Padilla-Lopez, Sergio, Lifton, Richard P., Gecz, Jozef, MacLennan, Alastair H., Kruer, Michael C.

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Pro-inflammatory activation of primary microglia and macrophages increases 18 kDa translocator protein expression in rodents but not humans von Owen, David R, Narayan, Nehal, Wells, Lisa, Healy, Luke, Smyth, Erica, Rabiner, Eugenii A, Galloway, Dylan, Williams, John B, Lehr, Joshua, Mandhair, Harpreet, Peferoen, Laura AN, Taylor, Peter C, Amor, Sandra, Antel, Jack P, Matthews, Paul M, Moore, Craig S

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Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders von Levy, Michael A., Relator, Raissa, McConkey, Haley, Pranckeviciene, Erinija, Kerkhof, Jennifer, Barat‐Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Palomares Bralo, María, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R., Elting, Mariet W., Faivre, Laurence, Fee, Timothy, Ferilli, Marco, Fletcher, Robin S., Cherick, Florian, Foroutan, Aidin, Friez, Michael J., Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A., Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J., Maitz, Silvia, Milani, Donatella, Morgan, Angela T., Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie R., Piccione, Maria, Plomp, Astrid S., Poulton, Cathryn, Reilly, Jack, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W. E., Santos‐Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella M., John, Miya St, Thauvin‐Robinet, Christel, Traficante, Giovanna, Sluijs, Pleuntje J., Vergano, Samantha A., Vos, Niels, Walden, Kellie K., Azmanov, Dimitar, Balci, Tugce B., Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A., Mannens, Marcel M. A. M., Roscioli, Tony, Siu, Victoria, Amor, David J., Baynam, Gareth, Bend, Eric G., Boycott, Kym, Brunetti‐Pierri, Nicola, Campeau, Philippe M., Campion, Dominique, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A., Fleming, Mark D., Genevieve, David, Heron, Delphine, Husson, Thomas, Kernohan, Kristin D., McNeill, Alisdair, Menke, Leonie A., Merla, Giuseppe, Prontera, Paolo, Rockman‐Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A., Stevenson, Roger E., Vincent, Marie, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L., Sadikovic, Bekim

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Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease von Amarasekera, Sumudu S C, Hock, Daniella H, Lake, Nicole J, Calvo, Sarah E, Grønborg, Sabine W, Krzesinski, Emma I, Amor, David J, Fahey, Michael C, Simons, Cas, Wibrand, Flemming, Mootha, Vamsi K, Lek, Monkol, Lunke, Sebastian, Stark, Zornitza, Østergaard, Elsebet, Christodoulou, John, Thorburn, David R, Stroud, David A, Compton, Alison G

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Reproductive function in men conceived with in vitro fertilization and intracytoplasmic sperm injection von Catford, Sarah R., Halliday, Jane, Lewis, Sharon, O’Bryan, Moira K., Handelsman, David J., Hart, Roger J., McBain, John, Rombauts, Luk, Amor, David J., Saffery, Richard, McLachlan, Robert I.

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Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer von Lindstrom, Sara, Dennis, Joe, Maranian, Mel J, Brand, Judith S, Nordestgaard, Børge G, Flyger, Henrik, Rahman, Nazneen, Fletcher, Olivia, Nevanlinna, Heli, Muranen, Taru A, Aaltonen, Kirsimari, Ahsan, Habibul, John, Esther M, Gammon, Marilie D, Ursin, Giske, Schmidt, Daniel F, Gapstur, Susan M, Gaudet, Mia M, Diver, W Ryan, Schumacher, Fredrick, Hoover, Robert N, Lambrechts, Diether, Wildiers, Hans, van Limbergen, Erik, Broeks, Annegien, Cornelissen, Sten, Couch, Fergus J, Olson, Janet E, Hallberg, Emily, Meijers-Heijboer, Hanne, Ito, Hidemi, Iwata, Hiroji, Guénel, Pascal, Sanchez, Marie, Marme, Frederik, Surowy, Harald, Sohn, Christof, Van Den Berg, David, Benitez, Javier, Lu, Wei, Gao, Yu-Tang, Andrulis, Irene L, Knight, Julia A, Mulligan, Anna Marie, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael J, Lindblom, Annika, Hollestelle, Antoinette, Collée, J Margriet, Blot, William, Signorello, Lisa B, Cai, Qiuyin, Hou, Ming-Feng, Kristensen, Vessela N, Milne, Roger L, McLean, Catriona, Peeters, Petra, Khaw, Kay-Tee, Palli, Domenico, Mortensen, Lotte Maxild, Dossus, Laure, Meindl, Alfons, Sutter, Christian, Yang, Rongxi, Muir, Kenneth, Siriwanarangsan, Pornthep, Miao, Hui, Chia, Kee Seng, Chan, Ching Wan, Fasching, Peter A, Beckmann, Matthias W, Haeberle, Lothar, Brenner, Hermann, Stegmaier, Christa, Ashworth, Alan, Schoemaker, Minouk J, Brinton, Louise, Zheng, Wei, Grip, Mervi, Brauch, Hiltrud, Radice, Paolo, Manoukian, Siranoush, Bernard, Loris, Dörk, Thilo, Hartikainen, Jaana M, Tollenaar, Robert A E M, Seynaeve, Caroline, Van Asperen, Christi J, Brennan, Paul, McKay, James, Neuhausen, Susan L, Baynes, Caroline, Ahmed, Shahana, Healey, Catherine S, Herrero, Daniel, Simard, Jacques, Chenevix-Trench, Georgia, Hall, Per, Easton, Douglas F

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Genome sequencing in congenital cataracts improves diagnostic yield von Ma, Alan, Grigg, John R., Flaherty, Maree, Smith, James, Minoche, Andre E., Cowley, Mark J., Nash, Benjamin M., Ho, Gladys, Gayagay, Thet, Lai, Tiffany, Farnsworth, Elizabeth, Hackett, Emma L., Slater, Katrina, Wong, Karen, Holman, Katherine J., Jenkins, Gemma, Cheng, Anson, Martin, Frank, Brown, Natasha J., Leighton, Sarah E., Amor, David J., Goel, Himanshu, Dinger, Marcel E., Bennetts, Bruce, Jamieson, Robyn V.

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The effect of an integrated multisector model for achieving the Millennium Development Goals and improving child survival in rural sub-Saharan Africa: a non-randomised controlled a... von Pronyk, Paul M, PhD, Muniz, Maria, MPA, Nemser, Ben, MPH, Somers, Marie-Andrée, PhD, McClellan, Lucy, MIA, Palm, Cheryl A, PhD, Huynh, Uyen Kim, PhD, Amor, Yanis Ben, PhD, Begashaw, Belay, PhD, McArthur, John W, DPhil, Niang, Amadou, PhD, Sachs, Sonia Ehrlich, MD, Singh, Prabhjot, PhD, Teklehaimanot, Awash, Prof, Sachs, Jeffrey D, Prof

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Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study von Dowty, James G., Lee, Grant, Templeton, Allyson S., Alvarez, Karin, Ankathil, Ravindran, Austin, Rachel, Barca-Tierno, Verónica, Berthet, Pascaline, Boisjoli, Talya, Briollais, Laurent, Brunet, Joan, Bucksch, Karolin, Buettner, Reinhard, Burn, John, Caldés, Trinidad, Casey, Graham, Chew, Min H., Choi, Yun-hee, Church, James, Clendenning, Mark, Colas, Chrystelle, Coupier, Isabelle, de la Chapelle, Albert, Dębniak, Tadeusz, Della Valle, Adriana, Dominguez-Valentin, Mev, Engel, Christoph, Esperon, Patricia, Foulkes, William, Frebourg, Thierry, Gallinger, Steven, Garre, Pilar, Genuardi, Maurizio, Giraud, Sophie, Goodwin, Annabel, Green, Kate, Guindalini, Rodrigo S.C., Half, Elizabeth E., Hampel, Heather, Ho, Judy W.C., Hoogerbrugge, Nicoline, Hüneburg, Robert, Huntley, Vanessa, Jensen, Uffe B, Juhari, Wan K.W., Kloor, Matthias, Kupfer, Sonia S., Lagerstedt-Robinson, Kristina, Lalloo, Fiona, Lautrup, Charlotte K., Leggett, Barbara A., Lejeune, Sophie, Lindor, Noralane, Loeffler, Markus, Lucassen, Anneke M, Lynch, Patrick M., Møller, Pål, Navarro, Matilde, Neffa, Florencia, Neklason, Deborah, Nixon, Dawn M., Palmero, Edenir I., Pande, Mala, Parry, Susan, Pineda, Marta, Qiu, Jay, Ramesar, Raj, Rasmussen, Lene J., Redler, Silke, Ricciardiello, Luigi, Schulmann, Karsten, Schuster, Helène, Senter, Leigha, Seppälä, Toni T, Shtoyerman, Rakefet, Sijmons, Rolf H., Soto, Jose Luis, Spigelman, Allan, Steinke-Lange, Verena, Stoffel, Elena M., Strassburg, Christian P., Sunde, Lone, Therkildsen, Christina, Thibodeau, Steve, Tucker, Katherine M., Tunca, Berrin, Uhrhammer, Nancy, Vaccaro, Carlos, van Duijnhoven, Fränzel J.B., van Wanzeele, Meghan J., Vasen, Hans F.A., von Knebel Doeberitz, Magnus, von Salomé, Jenny, Ward, Robyn L., Wise, Paul E., Yamaguchi, Tatsuro, Zahary, Mohd N., Hopper, John L., Haile, Robert W., Jenkins, Mark A.

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Comparing indicators of health and development of singleton young adults conceived with and without assisted reproductive technology von Halliday, Jane, Ph.D, Wilson, Cate, M.P.H, Hammarberg, Karin, Ph.D, Doyle, Lex W., M.D, Bruinsma, Fiona, D.P.H, McLachlan, Robert, M.B.B.S., Ph.D, McBain, John, M.D, Berg, Turi, M.P.H, Fisher, Jane R., Ph.D, Amor, David, M.B.B.S., Ph.D

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Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots von Inaba, Yoshimi, Schwartz, Charles E, Bui, Quang M, Li, Xin, Skinner, Cindy, Field, Michael, Wotton, Tiffany, Hagerman, Randi J, Francis, David, Amor, David J, Hopper, John L, Loesch, Danuta Z, Bretherton, Lesley, Slater, Howard R, Godler, David E

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