Towards a comprehensive structural variation map of an individual human genome

por Pang, Andy W, MacDonald, Jeffrey R, Pinto, Dalila, Wei, John, Rafiq, Muhammad A, Conrad, Donald F, Park, Hansoo, Hurles, Matthew E, Lee, Charles, Venter, J Craig, Kirkness, Ewen F, Levy, Samuel, Feuk, Lars, Scherer, Stephen W
Publicado 2010

Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability

por Bernkopf, Marie, Webersinke, Gerald, Tongsook, Chanakan, Koyani, Chintan N., Rafiq, Muhammad A., Ayaz, Muhammad, Müller, Doris, Enzinger, Christian, Aslam, Muhammad, Naeem, Farooq, Schmidt, Kurt, Gruber, Karl, Speicher, Michael R., Malle, Ernst, Macheroux, Peter, Ayub, Muhammad, Vincent, John B., Windpassinger, Christian, Duba, Hans-Christoph
Publicado 2014

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

por Guimier, Anne, Achleitner, Melanie T., Moreau de Bellaing, Anne, Edwards, Matthew, de Pontual, Loïc, Mittal, Kirti, Dunn, Kyla E., Grove, Megan E., Tysoe, Carolyn J., Dimartino, Clémantine, Cameron, Jessie, Kanthi, Anil, Shukla, Anju, van den Broek, Florence, Chatterjee, Diptendu, Alston, Charlotte L., Knowles, Charlotte V., Brett, Laura, Till, Jan A., Homfray, Tessa, French, Paul, Spentzou, Georgia, Elserafy, Noha A., Lichkus, Kate S., Sankaran, Bindu P., Kennedy, Hannah L., George, Peter M., Kidd, Alexa, Wortmann, Saskia B., Fisk, Dianna G., Koopmann, Tamara T., Rafiq, Muhammad A., Merker, Jason D., Parikh, Sumith, Ahimaz, Priyanka, Weintraub, Robert G., Ma, Alan S., Turner, Christian, Ellaway, Carolyn J., Phillips, Liza K., Thorburn, David R., Chung, Wendy K., Kana, Sajel L., Faye-Petersen, Ona M., Thompson, Michelle L., Janin, Alexandre, McLeod, Karen, McGowan, Ruth, McFarland, Robert, Girisha, Katta M., Morris-Rosendahl, Deborah J., Hurst, Anna C. E., Turner, Claire L. S., Hamilton, Robert M., Taylor, Robert W., Bajolle, Fanny, Gordon, Christopher T., Amiel, Jeanne, Mayr, Johannes A., Doudney, Kit
Publicado 2021