Mechanical properties of single supramolecular polymers from correlative AFM and fluorescence microscopy von Beuwer, Michael A., Knopper, M. F., Albertazzi, Lorenzo, van der Zwaag, Daan, Ellenbroek, Wouter G., Meijer, E. W., Prins, Menno W. J., Zijlstra, Peter

Volltext

Mechanical properties of single supramolecular polymers from correlative AFM and fluorescence microscopyElectronic supplementary information (ESI) available. See DOI: 10.1039/c6py0... von Beuwer, Michael A, Knopper, M. F, Albertazzi, Lorenzo, van der Zwaag, Daan, Ellenbroek, Wouter G, Meijer, E. W, Prins, Menno W. J, Zijlstra, Peter

Volltext

Mutations in PIK3R1 Cause SHORT Syndrome von Dyment, David A., Smith, Amanda C., Alcantara, Diana, Schwartzentruber, Jeremy A., Basel-Vanagaite, Lina, Curry, Cynthia J., Temple, I. Karen, Reardon, William, Mansour, Sahar, Haq, Mushfequr R., Gilbert, Rodney, Lehmann, Ordan J., Vanstone, Megan R., Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Boycott, Kym M., Innes, A. Micheil

Volltext

Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps von Adeyemo, Adebowale, Balaconis, Mary K, Darnes, Deanna R, Fatumo, Segun, Granados Moreno, Palmira, Hodonsky, Chani J, Inouye, Michael

Volltext

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype von Sawyer, Sarah L, Tian, Lei, Kähkönen, Marketta, Schwartzentruber, Jeremy, Kircher, Martin, Majewski, Jacek, Dyment, David A, Innes, A Micheil, Boycott, Kym M, Moreau, Lisa A, Moilanen, Jukka S, Greenberg, Roger A

Volltext

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome von Hood, Rebecca L., Lines, Matthew A., Nikkel, Sarah M., Schwartzentruber, Jeremy, Beaulieu, Chandree, Nowaczyk, Małgorzata J.M., Allanson, Judith, Kim, Chong Ae, Wieczorek, Dagmar, Moilanen, Jukka S., Lacombe, Didier, Gillessen-Kaesbach, Gabriele, Whiteford, Margo L., Quaio, Caio Robledo D.C., Gomy, Israel, Bertola, Debora R., Albrecht, Beate, Platzer, Konrad, McGillivray, George, Zou, Ruobing, McLeod, D. Ross, Chudley, Albert E., Chodirker, Bernard N., Marcadier, Janet, Majewski, Jacek, Bulman, Dennis E., White, Susan M., Boycott, Kym M.

Volltext

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration von Koenekoop, Robert K, Wang, Hui, Majewski, Jacek, Wang, Xia, Lopez, Irma, Ren, Huanan, Chen, Yiyun, Li, Yumei, Fishman, Gerald A, Genead, Mohammed, Schwartzentruber, Jeremy, Solanki, Naimesh, Traboulsi, Elias I, Cheng, Jingliang, Logan, Clare V, McKibbin, Martin, Hayward, Bruce E, Parry, David A, Johnson, Colin A, Nageeb, Mohammed, Poulter, James A, Mohamed, Moin D, Jafri, Hussain, Rashid, Yasmin, Taylor, Graham R, Keser, Vafa, Mardon, Graeme, Xu, Huidan, Inglehearn, Chris F, Fu, Qing, Toomes, Carmel, Chen, Rui

Volltext

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly von Lines, Matthew A., Huang, Lijia, Schwartzentruber, Jeremy, Douglas, Stuart L., Lynch, Danielle C., Beaulieu, Chandree, Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria, Gener, Blanca, Gillessen-Kaesbach, Gabriele, Nava, Caroline, Baujat, Geneviève, Horn, Denise, Kini, Usha, Caliebe, Almuth, Alanay, Yasemin, Utine, Gulen Eda, Lev, Dorit, Kohlhase, Jürgen, Grix, Arthur W., Lohmann, Dietmar R., Hehr, Ute, Böhm, Detlef, Majewski, Jacek, Bulman, Dennis E., Wieczorek, Dagmar, Boycott, Kym M.

Volltext

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome von McDonell, Laura M, Mirzaa, Ghayda M, Alcantara, Diana, Schwartzentruber, Jeremy, Carter, Melissa T, Lee, Leo J, Clericuzio, Carol L, Graham, John M, Morris-Rosendahl, Deborah J, Polster, Tilman, Acsadi, Gyula, Townshend, Sharron, Williams, Simon, Halbert, Anne, Isidor, Bertrand, David, Albert, Smyser, Christopher D, Paciorkowski, Alex R, Willing, Marcia, Woulfe, John, Das, Soma, Beaulieu, Chandree L, Marcadier, Janet, Geraghty, Michael T, Frey, Brendan J, Majewski, Jacek, Bulman, Dennis E, Dobyns, William B, O'Driscoll, Mark, Boycott, Kym M

Volltext

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population von Srour, Myriam, Schwartzentruber, Jeremy, Hamdan, Fadi F., Ospina, Luis H., Patry, Lysanne, Labuda, Damian, Massicotte, Christine, Dobrzeniecka, Sylvia, Capo-Chichi, José-Mario, Papillon-Cavanagh, Simon, Samuels, Mark E., Boycott, Kym M., Shevell, Michael I., Laframboise, Rachel, Désilets, Valérie, Maranda, Bruno, Rouleau, Guy A., Majewski, Jacek, Michaud, Jacques L.

Volltext

Genomic newborn screening: public health policy considerations and recommendations von Friedman, Jan M, Cornel, Martina C, Goldenberg, Aaron J, Lister, Karla J, Sénécal, Karine, Vears, Danya F

Volltext

Diversity of Human Copy Number Variation and Multicopy Genes von Sudmant, Peter H., Kitzman, Jacob O., Antonacci, Francesca, Alkan, Can, Malig, Maika, Tsalenko, Anya, Sampas, Nick, Bruhn, Laurakay, Shendure, Jay, Eichler, Evan E.

Volltext

Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia von Sawyer, Sarah L., Schwartzentruber, Jeremy, Beaulieu, Chandree L., Dyment, David, Smith, Amanda, Chardon, Jodi Warman, Yoon, Grace, Rouleau, Guy A., Suchowersky, Oksana, Siu, Victoria, Murphy, Lisa, Hegele, Robert A., Marshall, Christian R., Bulman, Dennis E., Majewski, Jacek, Tarnopolsky, Mark, Boycott, Kym M.

Volltext

Mapping copy number variation by population-scale genome sequencing von Mills, Ryan E., Walter, Klaudia, Stewart, Chip, Handsaker, Robert E., Chen, Ken, Alkan, Can, Abyzov, Alexej, Yoon, Seungtai Chris, Ye, Kai, Cheetham, R. Keira, Chinwalla, Asif, Conrad, Donald F., Fu, Yutao, Grubert, Fabian, Hajirasouliha, Iman, Hormozdiari, Fereydoun, Iakoucheva, Lilia M., Iqbal, Zamin, Kang, Shuli, Kidd, Jeffrey M., Konkel, Miriam K., Korn, Joshua, Khurana, Ekta, Kural, Deniz, Lam, Hugo Y. K., Leng, Jing, Li, Ruiqiang, Li, Yingrui, Lin, Chang-Yun, Luo, Ruibang, Mu, Xinmeng Jasmine, Nemesh, James, Peckham, Heather E., Rausch, Tobias, Scally, Aylwyn, Shi, Xinghua, Stromberg, Michael P., Stütz, Adrian M., Urban, Alexander Eckehart, Walker, Jerilyn A., Wu, Jiantao, Zhang, Yujun, Zhang, Zhengdong D., Batzer, Mark A., Ding, Li, Marth, Gabor T., McVean, Gil, Sebat, Jonathan, Snyder, Michael, Wang, Jun, Ye, Kenny, Eichler, Evan E., Gerstein, Mark B., Hurles, Matthew E., Lee, Charles, McCarroll, Steven A., Korbel, Jan O.

Volltext

Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics von Khurana, Ekta, Fu, Yao, Colonna, Vincenza, Mu, Xinmeng Jasmine, Kang, Hyun Min, Lappalainen, Tuuli, Sboner, Andrea, Lochovsky, Lucas, Chen, Jieming, Harmanci, Arif, Das, Jishnu, Abyzov, Alexej, Balasubramanian, Suganthi, Beal, Kathryn, Chakravarty, Dimple, Challis, Daniel, Chen, Yuan, Clarke, Declan, Clarke, Laura, Cunningham, Fiona, Evani, Uday S., Flicek, Paul, Fragoza, Robert, Garrison, Erik, Gibbs, Richard, Gümüş, Zeynep H., Herrero, Javier, Kitabayashi, Naoki, Kong, Yong, Lage, Kasper, Liluashvili, Vaja, Lipkin, Steven M., MacArthur, Daniel G., Marth, Gabor, Muzny, Donna, Pers, Tune H., Ritchie, Graham R. S., Rosenfeld, Jeffrey A., Sisu, Cristina, Wei, Xiaomu, Wilson, Michael, Xue, Yali, Yu, Fuli, Dermitzakis, Emmanouil T., Yu, Haiyuan, Rubin, Mark A., Tyler-Smith, Chris, Gerstein, Mark

Volltext

Sequence variants at CHRNB3–CHRNA6 and CYP2A6 affect smoking behavior von Thorgeirsson, Thorgeir E, Gudbjartsson, Daniel F, Surakka, Ida, Vink, Jacqueline M, Amin, Najaf, Geller, Frank, Sulem, Patrick, Rafnar, Thorunn, Esko, Tõnu, Walter, Stefan, Gieger, Christian, Rawal, Rajesh, Mangino, Massimo, Prokopenko, Inga, Mägi, Reedik, Keskitalo, Kaisu, Gudjonsdottir, Iris H, Gretarsdottir, Solveig, Stefansson, Hreinn, Thompson, John R, Aulchenko, Yurii S, Nelis, Mari, Aben, Katja K, den Heijer, Martin, Dirksen, Asger, Ashraf, Haseem, Soranzo, Nicole, Valdes, Ana M, Steves, Claire, Uitterlinden, André G, Hofman, Albert, Tönjes, Anke, Kovacs, Peter, Hottenga, Jouke Jan, Willemsen, Gonneke, Vogelzangs, Nicole, Döring, Angela, Dahmen, Norbert, Nitz, Barbara, Pergadia, Michele L, Saez, Berta, De Diego, Veronica, Lezcano, Victoria, Garcia-Prats, Maria D, Ripatti, Samuli, Perola, Markus, Kettunen, Johannes, Hartikainen, Anna-Liisa, Pouta, Anneli, Laitinen, Jaana, Isohanni, Matti, Huei-Yi, Shen, Allen, Maxine, Krestyaninova, Maria, Hall, Alistair S, Jones, Gregory T, van Rij, Andre M, Mueller, Thomas, Dieplinger, Benjamin, Haltmayer, Meinhard, Jonsson, Steinn, Matthiasson, Stefan E, Oskarsson, Hogni, Tyrfingsson, Thorarinn, Kiemeney, Lambertus A, Mayordomo, Jose I, Lindholt, Jes S, Pedersen, Jesper Holst, Franklin, Wilbur A, Wolf, Holly, Montgomery, Grant W, Heath, Andrew C, Martin, Nicholas G, Madden, Pamela A F, Giegling, Ina, Rujescu, Dan, Järvelin, Marjo-Riitta, Salomaa, Veikko, Stumvoll, Michael, Spector, Tim D, Wichmann, H-Erich, Metspalu, Andres, Samani, Nilesh J, Penninx, Brenda W, Oostra, Ben A, Boomsma, Dorret I, Tiemeier, Henning, van Duijn, Cornelia M, Kaprio, Jaakko, Gulcher, Jeffrey R, McCarthy, Mark I, Peltonen, Leena, Thorsteinsdottir, Unnur, Stefansson, Kari

Volltext

Variation in genome-wide mutation rates within and between human families von CONRAD, Donald F, KEEBLER, Jonathan E. M, ZILVERSMIT, Martine, CARTWRIGHT, Reed, ROULEAU, Guy A, DALY, Mark, STONE, Eric A, HURLES, Matthew E, AWADALLA, Philip, DEPRISTO, Mark A, LINDSAY, Sarah J, YUJUN ZHANG, CASALS, Ferran, IDAGHDOUR, Youssef, HARTL, Chris L, TORROJA, Carlos, GARIMELLA, Kiran V

Volltext

Demographic history and rare allele sharing among human populations von Gravel, Simon, Henn, Brenna M, Gutenkunst, Ryan N, Indap, Amit R, Marth, Gabor T, Clark, Andrew G, Yu, Fuli, Gibbs, Richard A, Bustamante, Carlos D

Volltext

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine von Goddard, Katrina A.B., Bernhardt, Barbara A., Biswas, Sawona, Bowling, Kevin M., Caga-anan, Charlisse F., Chinnaiyan, Arul M., Clayton, Ellen W., East, Kelly, Garraway, Levi A., Garrett, Jeremy R., Gray, Stacy W., Hindorff, Lucia A., Lewis, Michelle Huckaby, Hutter, Carolyn M., Janne, Pasi A., Knoppers, Bartha M., Krantz, Ian D., Manolio, Teri A., Nickerson, Deborah A., Ou, Jeffrey, Parsons, Donald W., Petersen, Gloria M., Plon, Sharon E., Rehm, Heidi L., Robinson, Dan, Salama, Joseph S., Scollon, Sarah, Shirts, Brian, Tabor, Holly K., Tarczy-Hornoch, Peter, Appelbaum, Paul S., Arora, Shubhangi, Brothers, Kyle B., Brown, Brian L., Caga-anan, Charlisse F., Calikoglu, Muge G., Christensen, Kurt D., Cirino, Allison L., Conlin, Laura K., Crosslin, David R., Davis, James V., Dorschner, Michael O., Dugan, Noreen P., Exe, Nicole, Fishler, Kristen, Ghrundmeier, Bob, Gordon, Adam S., Gray, David E., Gray, Stacy W., Gutierrez, Amanda M., Hensman, Naomi, Hiatt, Susan M., Himes, Patricia, Horike-Pyne, Martha J., Hull, Sara, Jensen, Brian C., Joffe, Steve, Kaufman, Dave, Kim, Jerry H., Klein, William, Lambert, Michele P., Leo, Michael C., Lewis, Katie, Lonigro, Bob, Machini, Kalotina, Manolio, Teri A., McCullough, Laurence, McMullen, Carmit, Mooney, Sean D., Moore, Elizabeth G., Muzny, Donna, Ng, David, Nickerson, Deborah A., Oliver, Nelly M., Parsons, Will, Plon, Sharon, Powell, Bradford C., Raesz-Martinez, Robin A., Raskind, Wendy H., Rehm, Heidi L., Reiss, Jacob A., Robertson, Peggy D., Robinson, Dan, Salama, Joseph, Scarano, Maria I., Sholl, Lynette M., Silverman, Elian, Simmons, Shirley, Spinner, Nancy B., Stoffel, Elena, Tilley, Christian R., Trinidad, Susan, Ubel, Peter, Vassy, Jason L., Vries, Raymond D., Weck, Karen, Wolf, Susan M., Wynn, Julia, Yu, Joon-Ho, Zikmund-Fisher, Brian J.

Volltext

Mutations in TMEM231 cause Joubert syndrome in French Canadians von Srour, Myriam, Hamdan, Fadi F, Schwartzentruber, Jeremy A, Patry, Lysanne, Ospina, Luis H, Shevell, Michael I, Désilets, Valérie, Dobrzeniecka, Sylvia, Mathonnet, Géraldine, Lemyre, Emmanuelle, Massicotte, Christine, Labuda, Damian, Amrom, Dina, Andermann, Eva, Sébire, Guillaume, Maranda, Bruno, Consortium, FORGE Canada, Rouleau, Guy A, Majewski, Jacek, Michaud, Jacques L

Volltext