MMP-7 promotes prostate cancer-induced osteolysis via the solubilization of RANKL by Lynch, Conor C., Hikosaka, Atsuya, Acuff, Heath B., Martin, Michelle D., Kawai, Noriyasu, Singh, Rakesh K., Vargo-Gogola, Tracy C., Begtrup, Jennifer L., Peterson, Todd E., Fingleton, Barbara, Shirai, Tomoyuki, Matrisian, Lynn M., Futakuchi, Mitsuru

Get full text

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders by Nabais Sá, Maria J., El Tekle, Geniver, de Brouwer, Arjan P.M., Sawyer, Sarah L., del Gaudio, Daniela, Parker, Michael J., Kanani, Farah, van den Boogaard, Marie-José H., van Gassen, Koen, Van Allen, Margot I., Wierenga, Klaas, Purcarin, Gabriela, Elias, Ellen Roy, Begtrup, Amber, Keller-Ramey, Jennifer, Bernasocchi, Tiziano, van de Wiel, Laurens, Gilissen, Christian, Venselaar, Hanka, Pfundt, Rolph, Vissers, Lisenka E.L.M., Theurillat, Jean-Philippe P., de Vries, Bert B.A.

Get full text

Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects by AlAbdi, Lama, Desbois, Muriel, Rusnac, Domniţa-Valeria, Sulaiman, Raashda A, Rosenfeld, Jill A, Lalani, Seema, Murdock, David R, Burrage, Lindsay C, Billie Au, Ping Yee, Towner, Shelley, Wilson, William G, Wong, Lawrence, Brunet, Theresa, Strobl-Wildemann, Gertrud, Burton, Jennifer E, Hoganson, George, McWalter, Kirsty, Begtrup, Amber, Zarate, Yuri A, Christensen, Elyse L, Opperman, Karla J, Giles, Andrew C, Helaby, Rana, Kania, Artur, Zheng, Ning, Grill, Brock, Alkuraya, Fowzan S

Get full text

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions by Ziegler, Alban, Koval-Burt, Carrie, Kay, Denise M, Suchy, Sharon F, Begtrup, Amber, Langley, Katherine G, Hernan, Rebecca, Amendola, Laura M, Boyd, Brenna M, Bradley, Jennifer, Brandt, Tracy, Cohen, Lilian L, Coffey, Alison J, Devaney, Joseph M, Dygulska, Beata, Friedman, Bethany, Fuleihan, Ramsay L, Gyimah, Awura, Hahn, Sihoun, Hofherr, Sean, Hruska, Kathleen S, Hu, Zhanzhi, Jeanne, Médéric, Jin, Guanjun, Johnson, D. Aaron, Kavus, Haluk, Leibel, Rudolph L, Lobritto, Steven J, McGee, Stephen, Milner, Joshua D, McWalter, Kirsty, Monaghan, Kristin G, Orange, Jordan S, Pimentel Soler, Nicole, Quevedo, Yeyson, Ratner, Samantha, Retterer, Kyle, Shah, Ankur, Shapiro, Natasha, Sicko, Robert J, Silver, Eric S, Strom, Samuel, Torene, Rebecca I, Williams, Olatundun, Ustach, Vincent D, Wynn, Julia, Taft, Ryan J, Kruszka, Paul, Caggana, Michele, Chung, Wendy K

Get full text

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability by Cogné, Benjamin, Ehresmann, Sophie, Beauregard-Lacroix, Eliane, Rousseau, Justine, Besnard, Thomas, Garcia, Thomas, Petrovski, Slavé, Avni, Shiri, McWalter, Kirsty, Blackburn, Patrick R., Sanders, Stephan J., Uguen, Kévin, Harris, Jacqueline, Cohen, Julie S., Blyth, Moira, Lehman, Anna, Berg, Jonathan, Li, Mindy H., Kini, Usha, Joss, Shelagh, von der Lippe, Charlotte, Gordon, Christopher T., Sutton, Vernon R., Johnston, Jennifer J., Poduri, Annapurna, Nordenskjöld, Magnus, Shashi, Vandana, Gerkes, Erica H., Bongers, Ernie M.H.F., Gilissen, Christian, Zarate, Yuri A., Kvarnung, Malin, Lally, Kevin P., Kulch, Peggy A., Daniels, Brina, Hernandez-Garcia, Andres, Stong, Nicholas, Retterer, Kyle, Sullivan, Jennifer, Geisheker, Madeleine R., Stray-Pedersen, Asbjorg, Tarpinian, Jennifer M., Sapp, Julie C., Zyskind, Jacob, Holla, Øystein L., Bedoukian, Emma, Filippini, Francesca, Guimier, Anne, Picard, Arnaud, Busk, Øyvind L., Punetha, Jaya, Pfundt, Rolph, Lindstrand, Anna, Nordgren, Ann, Kalb, Fayth, Desai, Megha, Ebanks, Ashley Harmon, Jhangiani, Shalini N., Zackai, Elaine H., Begtrup, Amber, Song, Xiaofei, Toutain, Annick, Wentzensen, Ingrid M., Odent, Sylvie, Bonneau, Dominique, Latypova, Xénia, Deb, Wallid, Redon, Sylvia, Bilan, Frédéric, Legendre, Marine, Troyer, Caitlin, Whitlock, Kerri, Caluseriu, Oana, Pichurin, Pavel N., Gavrilova, Ralitza, Rinne, Tuula, Park, Meredith, Shain, Catherine, Heinzen, Erin L., Xiao, Rui, Amiel, Jeanne, Isidor, Bertrand, Biesecker, Leslie G., Lowenstein, Dan, Posey, Jennifer E., Denommé-Pichon, Anne-Sophie, Férec, Claude, Yang, Xiang-Jiao, Rosenfeld, Jill A., Gilbert-Dussardier, Brigitte, Audebert-Bellanger, Séverine, Stessman, Holly A.F., Nellaker, Christoffer, Yang, Yaping, Lupski, James R., Eichler, Evan E., Bolduc, Francois, Bézieau, Stéphane, Küry, Sébastien, Campeau, Philippe M.

Get full text

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies by Smallwood, Kelly, Watt, Kristin E.N., Ide, Satoru, Baltrunaite, Kristina, Brunswick, Chad, Inskeep, Katherine, Capannari, Corrine, Adam, Margaret P., Begtrup, Amber, Bertola, Debora R., Demmer, Laurie, Demo, Erin, Devinsky, Orrin, Gallagher, Emily R., Guillen Sacoto, Maria J., Jech, Robert, Keren, Boris, Kussmann, Jennifer, Ladda, Roger, Lansdon, Lisa A., Lunke, Sebastian, Mardy, Anne, McWalters, Kirsty, Person, Richard, Raiti, Laura, Saitoh, Noriko, Saunders, Carol J., Schnur, Rhonda, Skorvanek, Matej, Sell, Susan L., Slavotinek, Anne, Sullivan, Bonnie R., Stark, Zornitza, Symonds, Joseph D., Wenger, Tara, Weber, Sacha, Whalen, Sandra, White, Susan M., Winkelmann, Juliane, Zech, Michael, Zeidler, Shimriet, Maeshima, Kazuhiro, Stottmann, Rolf W., Trainor, Paul A., Weaver, K. Nicole

Get full text

Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders by O'Grady, Lauren, Schrier Vergano, Samantha A., Hoffman, Trevor L., Sarco, Dean, Cherny, Sara, Bryant, Emily, Schultz‐Rogers, Laura, Chung, Wendy K., Sacharow, Stephanie, Immken, Ladonna L., Holder, Susan, Blackwell, Rebecca R., Buchanan, Catherine, Yusupov, Roman, Lecoquierre, François, Guerrot, Anne‐Marie, Rodan, Lance, Vries, Bert B. A., Kamsteeg, Erik Jan, Santos Simarro, Fernando, Palomares‐Bralo, Maria, Brown, Natasha, Pais, Lynn, Ferrer, Alejandro, Klee, Eric W., Babovic‐Vuksanovic, Dusica, Rhodes, Lindsay, Person, Richard, Begtrup, Amber, Keller‐Ramey, Jennifer, Santiago‐Sim, Teresa, Schnur, Rhonda E., Sweetser, David A., Gold, Nina B.

Get full text

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability by Küry, Sébastien, van Woerden, Geeske M, Besnard, Thomas, Onori, Martina Proietti, Latypova, Xénia, Towne, Meghan C, Cho, Megan T, Prescott, Trine E, Ploeg, Melissa A, Sanders, Stephan J., Stessman, Holly A.F., Pujol, Aurora, Distel, Ben, Robak, Laurie A, Bernstein, Jonathan A., Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A, Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje W.M., Waugh, Jeff L, Deardorff, Matthew A., Hoganson, George E, Bosanko, Katherine B, Johnson, Diana S., Dabir, Tabib, Lunde Holla, Øystein, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J., Terhal, Paulien A, Grange, Dorothy K, van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J., Douglas, Jessica, Santani, Avni B., Nesbitt, Addie I., Helbig, Katherine L., Andrews, Marisa V., Begtrup, Amber, Tang, Sha, van Gassen, Koen L.I., Juusola, Jane, Foss, Kimberly, Enns, Gregory M., Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon H., Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine B., Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia A.L., Hahn, Sihoun, Brownstein, Catherine A., Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Quinquis, Delphine, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R., Thies, Jenny, Peart-Vissers, Lisenka E.L.M., Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M., Dubourg, Christèle, Diseases Network, Undiagnosed, Tan, Wen-Hann, Verbeek, Nienke E., Granzow, Martin, Santen, Gijs W.E., Shendure, Jay, Isidor, Bertrand, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W., Kleefstra, Tjitske, Cogné, Benjamin, Hugo, Gem, Study, Deciphering Developmental Disorders, Petrovski, Slavé, Retterer, Kyle

Get full text

Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders by O'Grady, Lauren, Schrier Vergano, Samantha A, Hoffman, Trevor L, Sarco, Dean, Cherny, Sara, Bryant, Emily, Schultz-Rogers, Laura, Chung, Wendy K, Sacharow, Stephanie, Immken, Ladonna L, Holder, Susan, Blackwell, Rebecca R, Buchanan, Catherine, Yusupov, Roman, Lecoquierre, François, Guerrot, Anne-Marie, Rodan, Lance, de Vries, Bert B A, Kamsteeg, Erik Jan, Santos Simarro, Fernando, Palomares-Bralo, Maria, Brown, Natasha, Pais, Lynn, Ferrer, Alejandro, Klee, Eric W, Babovic-Vuksanovic, Dusica, Rhodes, Lindsay, Person, Richard, Begtrup, Amber, Keller-Ramey, Jennifer, Santiago-Sim, Teresa, Schnur, Rhonda E, Sweetser, David A, Gold, Nina B

Get full text