Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data

por Cherukuri, Praveen F., Maduro, Valerie, Fuentes-Fajardo, Karin V., Lam, Kevin, Adams, David R., Tifft, Cynthia J., Mullikin, James C., Gahl, William A., Boerkoel, Cornelius F.
Publicado 2015

A Rare Myelin Protein Zero (MPZ) Variant Alters Enhancer Activity In Vitro and In Vivo

por Antonellis, Anthony, Dennis, Megan Y., Burzynski, Grzegorz, Huynh, Jimmy, Maduro, Valerie, Hodonsky, Chani J., Khajavi, Mehrdad, Szigeti, Kinga, Mukkamala, Sandeep, Bessling, Seneca L., Pavan, William J., McCallion, Andrew S., Lupski, James R., Green, Eric D.
Publicado 2010

ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13

por Zhang, Yihan, Huang, Haigen, Zhao, Gexin, Yokoyama, Tadafumi, Vega, Hugo, Huang, Yan, Sood, Raman, Bishop, Kevin, Maduro, Valerie, Accardi, John, Toro, Camilo, Boerkoel, Cornelius F., Lyons, Karen, Gahl, William A., Duan, Xiaohong, Malicdan, May Christine V., Lin, Shuo
Publicado 2017

Correction: ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13

por Zhang, Yihan, Huang, Haigen, Zhao, Gexin, Yokoyama, Tadafumi, Vega, Hugo, Huang, Yan, Sood, Raman, Bishop, Kevin, Maduro, Valerie, Accardi, John, Toro, Camilo, Boerkoel, Cornelius F., Lyons, Karen, Gahl, William A., Duan, Xiaohong, Malicdan, May Christine V., Lin, Shuo
Publicado 2017

Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome

por Albert, Jessica S, Bhattacharyya, Nisan, Wolfe, Lynne A, Bone, William P, Maduro, Valerie, Accardi, John, Adams, David R, Schwartz, Charles E, Norris, Joy, Wood, Tim, Gafni, Rachel I, Collins, Michael T, Tosi, Laura L, Markello, Thomas C, Gahl, William A, Boerkoel, Cornelius F
Publicado 2015

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability

por Maduro, Valerie, Pusey, Barbara N., Cherukuri, Praveen F., Atkins, Paul, du Souich, Christèle, Rupps, Rosemarie, Limbos, Marjolaine, Adams, David R., Bhatt, Samarth S., Eydoux, Patrice, Links, Amanda E., Lehman, Anna, Malicdan, May C., Mason, Christopher E., Morimoto, Marie, Mullikin, James C., Sear, Andrew, Van Karnebeek, Clara, Stankiewicz, Pawel, Gahl, William A., Toro, Camilo, Boerkoel, Cornelius F.
Publicado 2016

Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience

por Links, Amanda E., Draper, David, Lee, Elizabeth, Guzman, Jessica, Valivullah, Zaheer, Maduro, Valerie, Lebedev, Vlad, Didenko, Maxim, Tomlin, Garrick, Brudno, Michael, Girdea, Marta, Dumitriu, Sergiu, Haendel, Melissa A., Mungall, Christopher J., Smedley, Damian, Hochheiser, Harry, Arnold, Andrew M., Coessens, Bert, Verhoeven, Steven, Bone, William, Adams, David, Boerkoel, Cornelius F., Gahl, William A., Sincan, Murat
Publicado 2016

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

por Gall, Timothy, Valkanas, Elise, Bello, Christofer, Markello, Thomas, Adams, Christopher, Bone, William P., Brandt, Alexander J., Brazill, Jennifer M., Carmichael, Lynn, Davids, Mariska, Davis, Joie, Diaz-Perez, Zoraida, Draper, David, Elson, Jeremy, Flynn, Elise D., Godfrey, Rena, Groden, Catherine, Hsieh, Cheng-Kang, Fischer, Roxanne, Golas, Gretchen A., Guzman, Jessica, Huang, Yan, Kane, Megan S., Lee, Elizabeth, Li, Chong, Links, Amanda E., Maduro, Valerie, Malicdan, May Christine V., Malik, Fayeza S., Nehrebecky, Michele, Park, Joun, Pemberton, Paul, Schaffer, Katherine, Simeonov, Dimitre, Sincan, Murat, Smedley, Damian, Valivullah, Zaheer, Wahl, Colleen, Washington, Nicole, Wolfe, Lynne A., Xu, Karen, Zhu, Yi, Gahl, William A., Tifft, Cynthia J., Toro, Camillo, Adams, David R., He, Miao, Robinson, Peter N., Haendel, Melissa A., Zhai, R. Grace, Boerkoel, Cornelius F.
Publicado 2017

Telomere-to-telomere assembly of a complete human X chromosome

por Miga, Karen H., Koren, Sergey, Rhie, Arang, Vollger, Mitchell R., Gershman, Ariel, Bzikadze, Andrey, Brooks, Shelise, Howe, Edmund, Porubsky, David, Logsdon, Glennis A., Schneider, Valerie A., Potapova, Tamara, Wood, Jonathan, Chow, William, Armstrong, Joel, Fredrickson, Jeanne, Pak, Evgenia, Tigyi, Kristof, Kremitzki, Milinn, Markovic, Christopher, Maduro, Valerie, Dutra, Amalia, Bouffard, Gerard G., Chang, Alexander M., Hansen, Nancy F., Wilfert, Amy B., Thibaud-Nissen, Françoise, Schmitt, Anthony D., Belton, Jon-Matthew, Selvaraj, Siddarth, Dennis, Megan Y., Soto, Daniela C., Sahasrabudhe, Ruta, Kaya, Gulhan, Quick, Josh, Loman, Nicholas J., Holmes, Nadine, Loose, Matthew, Surti, Urvashi, Risques, Rosa ana, Graves Lindsay, Tina A., Fulton, Robert, Hall, Ira, Paten, Benedict, Howe, Kerstin, Timp, Winston, Young, Alice, Mullikin, James C., Pevzner, Pavel A., Gerton, Jennifer L., Sullivan, Beth A., Eichler, Evan E., Phillippy, Adam M.
Publicado 2020

The complete sequence of a human genome*

por Nurk, Sergey, Koren, Sergey, Rhie, Arang, Rautiainen, Mikko, Bzikadze, Andrey V., Mikheenko, Alla, Vollger, Mitchell R., Altemose, Nicolas, Uralsky, Lev, Gershman, Ariel, Aganezov, Sergey, Hoyt, Savannah J., Diekhans, Mark, Logsdon, Glennis A., Alonge, Michael, Antonarakis, Stylianos E., Borchers, Matthew, Bouffard, Gerard G., Brooks, Shelise Y., Caldas, Gina V., Chen, Nae-Chyun, Cheng, Haoyu, Chin, Chen-Shan, Chow, William, de Lima, Leonardo G., Dishuck, Philip C., Durbin, Richard, Dvorkina, Tatiana, Fiddes, Ian T., Formenti, Giulio, Fulton, Robert S., Fungtammasan, Arkarachai, Garrison, Erik, Grady, Patrick G.S., Graves-Lindsay, Tina A., Hall, Ira M., Hansen, Nancy F., Hartley, Gabrielle A., Haukness, Marina, Howe, Kerstin, Hunkapiller, Michael W., Jain, Chirag, Jain, Miten, Jarvis, Erich D., Kerpedjiev, Peter, Kirsche, Melanie, Kolmogorov, Mikhail, Korlach, Jonas, Kremitzki, Milinn, Li, Heng, Maduro, Valerie V., Marschall, Tobias, McCartney, Ann M., McDaniel, Jennifer, Miller, Danny E., Mullikin, James C., Myers, Eugene W., Olson, Nathan D., Paten, Benedict, Peluso, Paul, Pevzner, Pavel A., Porubsky, David, Potapova, Tamara, Rogaev, Evgeny I., Rosenfeld, Jeffrey A., Salzberg, Steven L., Schneider, Valerie A., Sedlazeck, Fritz J., Shafin, Kishwar, Shew, Colin J., Shumate, Alaina, Sims, Ying, Smit, Arian F. A., Soto, Daniela C., Sović, Ivan, Storer, Jessica M., Streets, Aaron, Sullivan, Beth A., Thibaud-Nissen, Françoise, Torrance, James, Wagner, Justin, Walenz, Brian P., Wenger, Aaron, Wood, Jonathan M. D., Xiao, Chunlin, Yan, Stephanie M., Young, Alice C., Zarate, Samantha, Surti, Urvashi, McCoy, Rajiv C., Dennis, Megan Y., Alexandrov, Ivan A., Gerton, Jennifer L., O’Neill, Rachel J., Timp, Winston, Zook, Justin M., Schatz, Michael C., Eichler, Evan E., Miga, Karen H., Phillippy, Adam M.
Publicado 2022