Search Results - Laricchia, Kristen M.

Chloroplast microsatellite markers for Artocarpus (Moraceae) developed from transcriptome sequences(1) by Gardner, Elliot M., Laricchia, Kristen M., Murphy, Matthew, Ragone, Diane, Scheffler, Brian E., Simpson, Sheron, Williams, Evelyn W., Zerega, Nyree J. C.

Get full text Get full text Get full text

Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report by van der Ven, Amelie T., Shril, Shirlee, Ityel, Hadas, Vivante, Asaf, Chen, Jing, Hwang, Daw-Yang, Laricchia, Kristen M., Lek, Monkol, Tasic, Velibor, Hildebrandt, Friedhelm

Get full text Get full text Get full text

Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression by Yang, Chaozhe, Harafuji, Naoe, O’Connor, Amber K., Kesterson, Robert A., Watts, Jacob A., Majmundar, Amar J., Braun, Daniela A., Lek, Monkol, Laricchia, Kristen M., Fathy, Hanan M., Mane, Shrikant, Shril, Shirlee, Hildebrandt, Friedhelm, Guay-Woodford, Lisa M.

Get full text Get full text Get full text

Mitochondrial DNA variation across 56,434 individuals in gnomAD by Laricchia, Kristen M., Lake, Nicole J., Watts, Nicholas A., Shand, Megan, Haessly, Andrea, Gauthier, Laura, Benjamin, David, Banks, Eric, Soto, Jose, Garimella, Kiran, Emery, James, Rehm, Heidi L., MacArthur, Daniel G., Tiao, Grace, Lek, Monkol, Mootha, Vamsi K., Calvo, Sarah E.

Get full text Get full text Get full text

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness by Töpf, Ana, Johnson, Katherine, Bates, Adam, Phillips, Lauren, Chao, Katherine R., England, Eleina M., Laricchia, Kristen M., Mullen, Thomas, Valkanas, Elise, Xu, Liwen, Bertoli, Marta, Blain, Alison, Casasús, Ana B., Duff, Jennifer, Mroczek, Magdalena, Specht, Sabine, Lek, Monkol, Ensini, Monica, MacArthur, Daniel G., Straub, Volker

Get full text Get full text Get full text

TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome by Kampf, Lina L., Schneider, Ronen, Gerstner, Lea, Thünauer, Roland, Chen, Mengmeng, Helmstädter, Martin, Amar, Ali, Onuchic-Whitford, Ana C., Loza Munarriz, Reyner, Berdeli, Afig, Müller, Dominik, Schrezenmeier, Eva, Budde, Klemens, Mane, Shrikant, Laricchia, Kristen M., Rehm, Heidi L., MacArthur, Daniel G., Lifton, Richard P., Walz, Gerd, Römer, Winfried, Bergmann, Carsten, Hildebrandt, Friedhelm, Hermle, Tobias

Get full text Get full text Get full text

Mutations in WDR4 as a new cause of Galloway-Mowat syndrome by Braun, Daniela A., Shril, Shirlee, Sinha, Aditi, Schneider, Ronen, Tan, Weizhen, Ashraf, Shazia, Hermle, Tobias, Jobst-Schwan, Tilman, Widmeier, Eugen, Majmundar, Amar J., Daga, Ankana, Warejko, Jillian K., Nakayama, Makiko, Schapiro, David, Chen, Jing, Airik, Merlin, Rao, Jia, Schmidt, Johanna Magdalena, Hoogstraten, Charlotte A., Hugo, Hannah, Meena, Jitendra, Lek, Monkol, Laricchia, Kristen M., Bagga, Arvind, Hildebrandt, Friedhelm

Get full text Get full text Get full text

GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome by Hermle, Tobias, Schneider, Ronen, Schapiro, David, Braun, Daniela A., van der Ven, Amelie T., Warejko, Jillian K., Daga, Ankana, Widmeier, Eugen, Nakayama, Makiko, Jobst-Schwan, Tilman, Majmundar, Amar J., Ashraf, Shazia, Rao, Jia, Finn, Laura S., Tasic, Velibor, Hernandez, Joel D., Bagga, Arvind, Jalalah, Sawsan M., El Desoky, Sherif, Kari, Jameela A., Laricchia, Kristen M., Lek, Monkol, Rehm, Heidi L., MacArthur, Daniel G., Mane, Shrikant, Lifton, Richard P., Shril, Shirlee, Hildebrandt, Friedhelm

Get full text Get full text Get full text

A structural variation reference for medical and population genetics by Collins, Ryan L., Brand, Harrison, Karczewski, Konrad J., Zhao, Xuefang, Alföldi, Jessica, Francioli, Laurent C., Khera, Amit V., Lowther, Chelsea, Gauthier, Laura D., Wang, Harold, Watts, Nicholas A., Solomonson, Matthew, O’Donnell-Luria, Anne, Baumann, Alexander, Munshi, Ruchi, Walker, Mark, Whelan, Christopher W., Huang, Yongqing, Brookings, Ted, Sharpe, Ted, Stone, Matthew R., Valkanas, Elise, Fu, Jack, Tiao, Grace, Laricchia, Kristen M., Ruano-Rubio, Valentin, Stevens, Christine, Gupta, Namrata, Cusick, Caroline, Margolin, Lauren, Taylor, Kent D., Lin, Henry J., Rich, Stephen S., Post, Wendy S., Chen, Yii-Der Ida, Rotter, Jerome I., Nusbaum, Chad, Philippakis, Anthony, Lander, Eric, Gabriel, Stacey, Neale, Benjamin M., Kathiresan, Sekar, Daly, Mark J., Banks, Eric, MacArthur, Daniel G., Talkowski, Michael E.

Get full text Get full text Get full text

Author Correction: A structural variation reference for medical and population genetics by Collins, Ryan L., Brand, Harrison, Karczewski, Konrad J., Zhao, Xuefang, Alföldi, Jessica, Francioli, Laurent C., Khera, Amit V., Lowther, Chelsea, Gauthier, Laura D., Wang, Harold, Watts, Nicholas A., Solomonson, Matthew, O’Donnell-Luria, Anne, Baumann, Alexander, Munshi, Ruchi, Walker, Mark, Whelan, Christopher W., Huang, Yongqing, Brookings, Ted, Sharpe, Ted, Stone, Matthew R., Valkanas, Elise, Fu, Jack, Tiao, Grace, Laricchia, Kristen M., Ruano-Rubio, Valentin, Stevens, Christine, Gupta, Namrata, Cusick, Caroline, Margolin, Lauren, Taylor, Kent D., Lin, Henry J., Rich, Stephen S., Post, Wendy S., Chen, Yii-Der Ida, Rotter, Jerome I., Nusbaum, Chad, Philippakis, Anthony, Lander, Eric, Gabriel, Stacey, Neale, Benjamin M., Kathiresan, Sekar, Daly, Mark J., Banks, Eric, MacArthur, Daniel G., Talkowski, Michael E.

Get full text Get full text Get full text

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract by van der Ven, Amelie T., Connaughton, Dervla M., Ityel, Hadas, Mann, Nina, Nakayama, Makiko, Chen, Jing, Vivante, Asaf, Hwang, Daw-yang, Schulz, Julian, Braun, Daniela A., Schmidt, Johanna Magdalena, Schapiro, David, Schneider, Ronen, Warejko, Jillian K., Daga, Ankana, Majmundar, Amar J., Tan, Weizhen, Jobst-Schwan, Tilman, Hermle, Tobias, Widmeier, Eugen, Ashraf, Shazia, Amar, Ali, Hoogstraaten, Charlotte A., Hugo, Hannah, Kitzler, Thomas M., Kause, Franziska, Kolvenbach, Caroline M., Dai, Rufeng, Spaneas, Leslie, Amann, Kassaundra, Stein, Deborah R., Baum, Michelle A., Somers, Michael J.G., Rodig, Nancy M., Ferguson, Michael A., Traum, Avram Z., Daouk, Ghaleb H., Bogdanović, Radovan, Stajić, Natasa, Soliman, Neveen A., Kari, Jameela A., El Desoky, Sherif, Fathy, Hanan M., Milosevic, Danko, Al-Saffar, Muna, Awad, Hazem S., Eid, Loai A., Selvin, Aravind, Senguttuvan, Prabha, Sanna-Cherchi, Simone, Rehm, Heidi L., MacArthur, Daniel G., Lek, Monkol, Laricchia, Kristen M., Wilson, Michael W., Mane, Shrikant M., Lifton, Richard P., Lee, Richard S., Bauer, Stuart B., Lu, Weining, Reutter, Heiko M., Tasic, Velibor, Shril, Shirlee, Hildebrandt, Friedhelm

Get full text Get full text Get full text

The mutational constraint spectrum quantified from variation in 141,456 humans by Karczewski, Konrad J., Francioli, Laurent C., Tiao, Grace, Cummings, Beryl B., Alföldi, Jessica, Wang, Qingbo, Collins, Ryan L., Laricchia, Kristen M., Ganna, Andrea, Birnbaum, Daniel P., Gauthier, Laura D., Brand, Harrison, Solomonson, Matthew, Watts, Nicholas A., Rhodes, Daniel, Singer-Berk, Moriel, England, Eleina M., Seaby, Eleanor G., Kosmicki, Jack A., Walters, Raymond K., Tashman, Katherine, Farjoun, Yossi, Banks, Eric, Poterba, Timothy, Wang, Arcturus, Seed, Cotton, Whiffin, Nicola, Chong, Jessica X., Samocha, Kaitlin E., Pierce-Hoffman, Emma, Zappala, Zachary, O’Donnell-Luria, Anne H., Minikel, Eric Vallabh, Weisburd, Ben, Lek, Monkol, Ware, James S., Vittal, Christopher, Armean, Irina M., Bergelson, Louis, Cibulskis, Kristian, Connolly, Kristen M., Covarrubias, Miguel, Donnelly, Stacey, Ferriera, Steven, Gabriel, Stacey, Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Llanwarne, Christopher, Munshi, Ruchi, Novod, Sam, Petrillo, Nikelle, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Schleicher, Molly, Soto, Jose, Tibbetts, Kathleen, Tolonen, Charlotte, Wade, Gordon, Talkowski, Michael E., Neale, Benjamin M., Daly, Mark J., MacArthur, Daniel G.

Get full text Get full text Get full text

Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans by Karczewski, Konrad J., Francioli, Laurent C., Tiao, Grace, Cummings, Beryl B., Alföldi, Jessica, Wang, Qingbo, Collins, Ryan L., Laricchia, Kristen M., Ganna, Andrea, Birnbaum, Daniel P., Gauthier, Laura D., Brand, Harrison, Solomonson, Matthew, Watts, Nicholas A., Rhodes, Daniel, Singer-Berk, Moriel, England, Eleina M., Seaby, Eleanor G., Kosmicki, Jack A., Walters, Raymond K., Tashman, Katherine, Farjoun, Yossi, Banks, Eric, Poterba, Timothy, Wang, Arcturus, Seed, Cotton, Whiffin, Nicola, Chong, Jessica X., Samocha, Kaitlin E., Pierce-Hoffman, Emma, Zappala, Zachary, O’Donnell-Luria, Anne H., Minikel, Eric Vallabh, Weisburd, Ben, Lek, Monkol, Ware, James S., Vittal, Christopher, Armean, Irina M., Bergelson, Louis, Cibulskis, Kristian, Connolly, Kristen M., Covarrubias, Miguel, Donnelly, Stacey, Ferriera, Steven, Gabriel, Stacey, Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Llanwarne, Christopher, Munshi, Ruchi, Novod, Sam, Petrillo, Nikelle, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Schleicher, Molly, Soto, Jose, Tibbetts, Kathleen, Tolonen, Charlotte, Wade, Gordon, Talkowski, Michael E., Neale, Benjamin M., Daly, Mark J., MacArthur, Daniel G.

Get full text Get full text Get full text

Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans by Gudmundsson, Sanna, Karczewski, Konrad J., Francioli, Laurent C., Tiao, Grace, Cummings, Beryl B., Alföldi, Jessica, Wang, Qingbo, Collins, Ryan L., Laricchia, Kristen M., Ganna, Andrea, Birnbaum, Daniel P., Gauthier, Laura D., Brand, Harrison, Solomonson, Matthew, Watts, Nicholas A., Rhodes, Daniel, Singer-Berk, Moriel, England, Eleina M., Seaby, Eleanor G., Kosmicki, Jack A., Walters, Raymond K., Tashman, Katherine, Farjoun, Yossi, Banks, Eric, Poterba, Timothy, Wang, Arcturus, Seed, Cotton, Whiffin, Nicola, Chong, Jessica X., Samocha, Kaitlin E., Pierce-Hoffman, Emma, Zappala, Zachary, O’Donnell-Luria, Anne H., Minikel, Eric Vallabh, Weisburd, Ben, Lek, Monkol, Ware, James S., Vittal, Christopher, Armean, Irina M., Bergelson, Louis, Cibulskis, Kristian, Connolly, Kristen M., Covarrubias, Miguel, Donnelly, Stacey, Ferriera, Steven, Gabriel, Stacey, Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Llanwarne, Christopher, Munshi, Ruchi, Novod, Sam, Petrillo, Nikelle, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Schleicher, Molly, Soto, Jose, Tibbetts, Kathleen, Tolonen, Charlotte, Wade, Gordon, Talkowski, Michael E., Neale, Benjamin M., Daly, Mark J., MacArthur, Daniel G.

Get full text Get full text Get full text

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations by Connaughton, Dervla M., Dai, Rufeng, Owen, Danielle J., Marquez, Jonathan, Mann, Nina, Graham-Paquin, Adda L., Nakayama, Makiko, Coyaud, Etienne, Laurent, Estelle M.N., St-Germain, Jonathan R., Blok, Lot Snijders, Vino, Arianna, Klämbt, Verena, Deutsch, Konstantin, Wu, Chen-Han Wilfred, Kolvenbach, Caroline M., Kause, Franziska, Ottlewski, Isabel, Schneider, Ronen, Kitzler, Thomas M., Majmundar, Amar J., Buerger, Florian, Onuchic-Whitford, Ana C., Youying, Mao, Kolb, Amy, Salmanullah, Daanya, Chen, Evan, van der Ven, Amelie T., Rao, Jia, Ityel, Hadas, Seltzsam, Steve, Rieke, Johanna M., Chen, Jing, Vivante, Asaf, Hwang, Daw-Yang, Kohl, Stefan, Dworschak, Gabriel C., Hermle, Tobias, Alders, Mariëlle, Bartolomaeus, Tobias, Bauer, Stuart B., Baum, Michelle A., Brilstra, Eva H., Challman, Thomas D., Zyskind, Jacob, Costin, Carrie E., Dipple, Katrina M., Duijkers, Floor A., Ferguson, Marcia, Fitzpatrick, David R., Fick, Roger, Glass, Ian A., Hulick, Peter J., Kline, Antonie D., Krey, Ilona, Kumar, Selvin, Lu, Weining, Marco, Elysa J., Wentzensen, Ingrid M., Mefford, Heather C., Platzer, Konrad, Povolotskaya, Inna S., Savatt, Juliann M., Shcherbakova, Natalia V., Senguttuvan, Prabha, Squire, Audrey E., Stein, Deborah R., Thiffault, Isabelle, Voinova, Victoria Y., Somers, Michael J.G., Ferguson, Michael A., Traum, Avram Z., Daouk, Ghaleb H., Daga, Ankana, Rodig, Nancy M., Terhal, Paulien A., van Binsbergen, Ellen, Eid, Loai A., Tasic, Velibor, Rasouly, Hila Milo, Lim, Tze Y., Ahram, Dina F., Gharavi, Ali G., Reutter, Heiko M., Rehm, Heidi L., MacArthur, Daniel G., Lek, Monkol, Laricchia, Kristen M., Lifton, Richard P., Xu, Hong, Mane, Shrikant M., Sanna-Cherchi, Simone, Sharrocks, Andrew D., Raught, Brian, Fisher, Simon E., Bouchard, Maxime, Khokha, Mustafa K., Shril, Shirlee, Hildebrandt, Friedhelm

Get full text Get full text Get full text